Sex Determination. Reproductive Embryology. Secondary article. Testicular differentiation. Ovarian differentiation. Ductal and genital differentiation
|
|
- Morris Stephen Thornton
- 5 years ago
- Views:
Transcription
1 Joe Leigh Simpson, Baylor College of Medicine, Houston, Texas, USA Sex determination is the process by which genes direct male and female embryos to become distinguishable from each other. Reproductive Embryology Primordial germ cells originate in the endoderm of the yolk sac and migrate to the genital ridge to form the indifferent gonad. Initially, 46,XY and 46,XX gonads are indistinguishable. Indifferent gonads develop into testes if the embryo, or more specifically the gonadal stroma, is 46,XY. This process begins about 43 days after conception. Testes become morphologically identifiable 7 8 weeks after conception (9 10 weeks gestational or menstrual weeks). Secondary article Article Contents. Reproductive Embryology. Sex Determination in Males: Genes and Chromosomes Influencing Testicular Differentiation. Sex Determination in Females: Genes and Chromosomes Influencing Ovarian Differentiation. True Hermaphroditism: An Autosomal Disorder of Gonadal Differentiation. Selected Disordersof External Genital Development in 46,XX: Female Pseudohermaphroditism. Selected Disordersof External Genital Development in 46,XY: Male Pseudohermaphroditism. Klinefelter Syndrome (Seminiferous Tubule Dysgenesis) Testicular differentiation Sertoli cells are the first cells to become recognizable in testicular differentiation, organizing the surrounding cells into tubules. Leydig cells and Sertoli cells exert their function in dissociation from testicular morphogenesis; thus, these cells direct gonadal development, rather than the converse. These two cell types secrete different hormones, which in aggregate direct the embryo to develop into a male (Figure 1). Fetal Leydig cells produce testosterone, a hormone that stabilizes wolffian ducts and permits differentiation of the vasa deferentia, epididymides and seminal vesicles. Testosterone is then converted by 5a-reductase to dihydrotestosterone (DHT), and it is this hormone that is responsible for external genitalia virilization. These actions can be mimicked by the administration of testosterone to female or castrated male embryos. Fetal Sertoli cells produce the nonandrogenic glycoprotein antimu llerian hormone (AMH), also called mu llerian inhibitory substance (MIS); AMH diffuses locally to cause regression of mu llerian derivatives (uterus and fallopian tubes). This hormone may have functions related to gonadal development as well, given that when AMH is chronically expressed in XX transgenic mice oocytes fail to persist. Tubule-like structures develop in gonads, and mu llerian differentiation is abnormal. 5α-Reductase Indifferent gonad Embryonal testis Testosterone Wolffian stabilization Persistence of seminal vesicles Vasa deferentia Epididymides Dihydrotestosterone Genital virilization Y chromosome Product(s) of Y testicular determinant Müllerian inhibitory factor Müllerian inhibition Regresssion of uterus, fallopian tubes and upper vagina Penis Scrotum Labioscrotal fusion Figure 1 Embryonic differentiation in the normal male. Modified from Simpson JL (ed.) (1976) Disorders of Sexual Differentiation. New York: Academic Press. Ovarian differentiation In the absence of a Y chromosome, the indifferent gonad develops into an ovary. Transformation into fetal ovaries begins at days of embryonic development. Germ cells are initially present in 45,X embryos (Jirasek, 1976), but undergo atresia at a rate more rapid than that occurring in normal 46,XX embryos. Ductal and genital differentiation Ductal and external genital development occurs independently of gonadal differentiation. In the absence of testosterone and AMH, external genitalia develop in female fashion. Mu llerian ducts form the uterus and fallopian tubes; wolffian ducts regress. These changes occur in normal XX mammalian embryos and XY mammals that were castrated (embryonically) before testicular differentiation. 1
2 Sex Determination in Males: Genes and Chromosomes Influencing Testicular Differentiation Sex chromosomes (X and Y) as well as the autosomes contain loci that must remain intact for normal testicular development. Y chromosome In mammals a single Y can direct male sex differentiation, irrespective of normal X chromosomes (e.g. 47,XXY or 48,XXXY). Thus, sex determination in mammals differs fundamentally from that in Drosophila, a species in which the ratio of the X chromosomes to autosomes determines sex. The major testicular determinants (testis-determining factor) in humans were localized to the Y short arm (Yp) in the 1960s. Since the early 1990s it has become clear that sexdetermining region Y (SRY) is the testicular determinant (Sinclair et al., 1990). SRY was identified as result of mapping that took advantage of the syndrome of phenotypic males who are 46,XX and phenotypic females who are 46,XY. Phenotypic males with a 46,XX complement usually (80%) arise following interchange of not only the obligatory pseudoautosomal regions of Xp and Yp, but also the contiguous nonpseudoautosomal region that contains the testis determinants. In these cases SRY is mapped to the smallest translocated region compatible with male differentiation. Some sporadic XY females also show point mutations within SRY. SRY is composed of two open reading frames consisting of 99 and 273 amino acids, respectively. The pivotal sequence involves a high-mobility group (HMG) box that shares features in common with other DNA-binding sequences. SRY is expressed before testicular differentiation is manifested and transgenic XX mice with SRY show testicular differentiation (Koopman et al., 1991). Y chromosome and spermatogenesis Deletions of Y long arm (Yq) may be associated with azoospermia. About 10 15% of azoospermic men have deletions in DAZ (Deleted in AZoospermia), and about 5 10% of oligospermic men have deletions. Several loci exist, but their exact number and interrelationship are uncertain. One popular model assumes three loci: AZFa, the rarest and whose phenotype is associated with absence of spermatogenesis and stem cell; AZFb, whose phenotype shows maturational arrest and corresponds to a locus called RNA-Binding Motif (RBM); and AZFc, associated with both azoospermia and oligospermia and considered to contain the locus DAZ. Autosomal genes are also important for spermatogenesis. One well-known locus is DAZLA (Deleted in AZoospermia-Like Autosomal homologue), located on human chromosome 3. X chromosome and testicular development In addition to genes on the Y chromosome, various clinical disorders indicate that testicular differentiation also requires loci on X. The importance of genes on the X chromosome has long been evidenced by an X-linked recessive form of XY gonadal dysgenesis (Simpson et al., 1971; German et al., 1978). Of more recent interest is the demonstration of a region on the X short arm (Xp) that suppresses testicular development when duplicated in 46,XY individuals. This Dose-Sensitive Sex reversal (DSS) phenomenon involves a region that contains the locus for adrenal hypoplasia (AHC). Its murine homologue is Ahch. We shall allude later to the role this gene has been purported to play in primary ovarian differentiation. Autosomes and testicular development Several different autosomal regions are pivotal for testicular differentiation. Based somewhat on circumstantial reasons, it has been postulated that several genes (Sf-1, WT-1) are necessary for the indifferent gonad to differentiate into the testes. That is, they act upstream of SRY. Other genes are presumed to act downstream, i.e. after SRY exerts its action. Among the latter is the locus responsible for camptomelia dysplasia and XY gonadal dysgenesis (sex reversal), located on 17q24.3!q25.1. This region encompasses SOX-9, which, like SRY, is a DNAbinding protein. Other autosomal regions that preclude testicular development when deleted include 9p and 10q. Further evidence of autosomal control over testicular development is the existence of testicular differentiation in 46,XX true hermaphrodites, almost all of whom lack SRY. The responsible loci must therefore be autosomal. Furthermore, in mice the Mus pociavinus Y is not always capable of directing testicular differentiation. When placed on a predominately C57 autosomal background murine, true hermaphrodites result. Thus, murine autosomes play a role in preserving testicular development. The number of autosomal genes exerting actions both downstream and upstream from SRY is uncertain. The review of Ottolenghi et al. (1998) constitutes a good synthesis. 2
3 Sex Determination in Females: Genes and Chromosomes Influencing Ovarian Differentiation DAX 1 and the potential existence of a primary ovarian determinant In the absence of a Y chromosome, the indifferent gonad develops into an ovary. Given that germ cells exist in 45,X human fetuses (Jirasek, 1976) and 39,X mice, the pathogenesis of germ cell failure must involve increased germ cell attrition, not failure of formation. If two intact X chromosomes are not present, 45,X ovarian follicles usually degenerate by birth. The second X chromosome is therefore accepted as responsible for ovarian maintenance, as opposed to primary ovarian differentiation. It is unclear whether primary ovarian differentiation requires a specific gene, or rather occurs constitutively as the default pathway in the absence of SRY and the other testicular determinants. Some have focused on the Xp region that, when duplicated, directs 46,XY embryos into females. Could the region play a primary role in ovarian differentiation in 46,XX individuals? The relevant region in humans contains AHC (adrenal hypoplasia congenita) or DAX 1 (dosage-sensitive sex reversal/adrenal hypoplasia critical region X). Its mouse homologue is Ahch. Ahch is upregulated in the XX mouse ovary, and transgenic XY mice overexpressing Ahch develop as females, at least in the presence of a relatively weak Sry. However, if XX mice lose Ahch (knockout) ovarian development is not impaired and ovulation and fertility are normal (Yu et al., 1998). Furthermore, XY mice mutant for Ahch show testicular germ cell defects. Thus, Ahch is clearly not a primary ovarian differentiation in mice, and presumably neither is human DAX 1. There remains no evidence that primary ovarian differentiation is other than passive (constitutive). X-ovarian maintenance genes Irrespective of whether a primary ovarian-determining gene exists, regions of the X chromosome are important for ovarian maintenance. The location and role of these ovarian maintenance determinants traditionally have been deduced by phenotypic karyotypic correlations of individuals with absence of the X short arm, the X long arm, or the entire X (monosomy X). Each arm of the X has several distinct regions of differential importance for ovarian maintenance. Pinpointing the location molecularly has proceeded more slowly than delineation of the Y. Considering phenotype as a function of region of the X deleted is genetically and clinically informative. Monosomy X The chromosomal abnormality most frequently associated with ovarian dysgenesis is absence of one X (monosomy X), also referred to as Turner syndrome. In most 45,X adults with gonadal dysgenesis, the normal gonad is replaced by a white fibrous streak, located in the position ordinarily occupied by the ovary. That germ cells are usually absent in 45,X adults despite being present in 45,X embryos is the basis for the belief that the pathogenesis of germ cell failure is increased atresia, not failure of initial germ cell formation. Oestrogen levels are low; gonadotropins (follicle-stimulating hormone, FSH, and luteinizing hormone, LH) are increased. Short stature and various somatic anomalies may occur skeletal, cardiac, renal and auditory. Verbal IQ is greater than performance IQ, but overt mental retardation is uncommon. That 45,X adults lack germ cells as adults is not so predictable as one might expect. Relatively normal ovarian development occurs in many other monosomy X mammals (e.g. mice). The likely explanation is that in humans not all loci on the normal heterochromatic (inactive) X are inactivated. Indeed, about 15 20% of the human X-linked genes escape X-inactivation. Loci on Xp are far more likely to escape X-inactivation than those of Xq (perhaps 20 30% versus 1 2%). Genes that escape X-inactivation appear to be clustered, and it is in these regions that key ovarian maintenance determinants are likely to occur. In addition, X-inactivation never exists in oocytes, X- reactivation of germ cells occurring before entry in meiotic oogenesis. Clinically, 45,X women should be counselled to anticipate primary amenorrhoea and sterility. With hormone therapy uterine size becomes normal, and 45,X women can carry pregnancies in their own uterus after receipt of donor embryos or donor oocytes. The latter could be fertilized in vitro with their husband s sperm (assisted reproduction technology) and resulting embryos transferred to the hormonally synchronized 45,X patient. Success rates per cycle are 20 40%. Genes on the X short arm Deletions of the short arm [46,X,del(Xp)] show variable phenotype, depending upon the amount of Xp persisting. Approximately half of 46,X,del(Xp)(p11) individuals show primary amenorrhoea and gonadal dysgenesis (Simpson, 1998; Figure 2). The others menstruate and show breast development, or show premature ovarian failure. Molecular analysis has somewhat refined the key region, but still only to proximal mid Xp. No candidate gene has been proposed. Women with more distal deletions [del(x)(p21.1 to p )] menstruate more often, but some are infertile or have secondary amenorrhoea. This distal locus [Xpter!p21] thus plays a less important role in ovarian maintenance than loci on Xp11 (Simpson, 1998). 3
4 Genes on the X long arm Primary amenorrhoea Secondary amenorrhoea oligomenorrhoea Fertility or regular menses Figure 2 The X chromosome showing ovarian function as a function of terminal deletion. In familial cases involving Xq deletions, each individual is counted. From Lobo RA (ed.) (1998) Perimenopause, Serono Symposium USA, Norwell, MA. New York: Springer-Verlag. Almost all terminal deletions originating at Xq13 are associated with primary amenorrhoea, lack of breast development, and ovarian failure (Figure 2). Xq13 is thus a key region for germ cell (ovarian) maintenance. Loci could lie in proximal Xq21, but not more distal given that del(x)(q21!q24) individuals menstruate far more often. In more distal Xq deletions (Xq25 28), the usual phenotype is not complete ovarian failure, but premature ovarian failure (i.e. menopause under age 40 years) (Simpson, 1998). Distal Xq thus seems less important for ovarian maintenance than proximal Xq, but the former still plays a role in ovarian maintenance. One candidate gene has been proposed: Diaphanous, the human homologue of the Drosophila melanogaster gene diaphanous. In Drosophila this gene causes sterility in both males and females. Human DIA maps to Xq21, and in one Xq21; autosomal translocation characterized by sterility, DIA was perturbed (Bione et al., 1998). However, in other Xq21; autosomal translocations conferring sterility, DIA is not perturbed; nor is Xq21 the pivotal region. More distal Xq deletions [del(x) (q25)] are far more likely to be associated with premature ovarian failure (POF), or to show no abnormalities at all. Ovarian maintenance genes on autosomes Ovarian failure histologically similar to that occurring in individuals with an abnormal sex chromosomal complement may be present in 46,XX individuals. Mosaicism has been excluded in affected individuals, although mosaicism restricted to the embryo can never be excluded. The mechanism underlying failure of germ cell persistence in most forms of 46,XX gonadal dysgenesis is unknown, but several general hypotheses seem reasonable. One possibility is a disturbance of meiosis, a mechanism that can also be invoked to explain occurrence of germ cell breakdown in both monosomy X and balanced chromosomal translocations. In plants and lower mammals, meiosis is under genetic control, and it is likely that this is true in humans as well. Other pathogenic possibilities include interference with germ cell migration, abnormal connective tissue, failure of DNA repair mechanisms, disturbance of cell cycle check points, heat-shock proteins (the chaperone proteins that accompany steroid receptors), and gonadotropin receptor defects. Many autosomal genes in mice and Drosophila deleteriously affect germ cell development or gametogenesis, and are thus attractive candidate genes for human XX gonadal dysgenesis. Often the phenotype of these murine knockout models is restricted to germ cell abnormalities in the ovary or testes, genes being predicted to act in ways disparate from germ cells deficiency or errors of gametogenesis. Several distinct forms of XX gonadal dysgenesis exist. These genes include various pleiotropic genes that cause ovarian failure and various somatic anomalies, galactosaemia, 17a-hydroxylase deficiency, aromatase deficiency and FSH or LH receptor defects. True Hermaphroditism: An Autosomal Disorder of Gonadal Differentiation True hermaphrodites have both ovarian and testicular tissue. They may have a separate ovary and a separate testis, or, more often, one or more ovotestes. Most true hermaphrodites (60%) have a 46,XX chromosomal complement; others have 46,XX/46,XY, 46/XY, 46,XX/ 47,XXY, or rarer complements. Phenotype may reflect karyotype, but it is generally preferable merely to generalize about the phenotype of all true hermaphrodites. If no medical intervention were to occur (in modern societies a rarity), two-thirds of true hermaphrodites would be raised as males. By contrast, external genitalia are usually ambiguous or predominantly female. Breast development usually occurs at puberty, despite the predominantly male external genitalia. Gonadal tissue may be located in the ovarian, inguinal or labioscrotal regions. A testis or an ovotestis is more likely to be present on the right than on the left. Spermatozoa are rarely present; however, apparently normal oocytes are often observed, even in ovotestes. A few 46,XX true hermaphrodites have even become pregnant, usually but not always after removal of testicular tissue. A uterus is usually present, although sometimes bicornuate or unicornuate. Absence of a uterine horn usually indicates ipsilateral testis or ovotestis. 4
5 Acetate Cholesterol A C Pregnenolone B C Progesterone F 11-Deoxycorticosterone G Corticosterone 17α-OH Pregnenolone D Dehydroepiandrosterone B B 17α-OH Progesterone D E Androstenedione Testosterone F E 11-Deoxycortisol Oestrone Oestradiol G Cortisol Aldosterone Figure 3 Important adrenal and gonadal biosynthetic pathways. Letters designate enzymes required for the appropriate conversions. A, 20ahydroxylase, 22a-hydroxylase and 20,22-desmolase; B, 3b-ol-dehydrogenase; C, 17a-hydroxylase; D, 17,20-desmolase; E, 17-ketosteroid reductase; F, 21-hydroxylase; and G, 11-hydroxylase. From Simpson JL (1976) Disorders of Sexual Differentiation: Etiology and Clinical Delineation. New York: Academic Press. 46,XX/46,XY and 46,XY true hermaphroditism 46,XX/46,XY true hermaphrodites are usually chimaeras. In a single individual there are two or more cell lines, each derived from different zygotes. 46,XY cases may be unrecognized chimaeras. However, chimaerism is an unlikely explanation for 46,XX true hermaphrodites. Explanations for the presence of testes in individuals who ostensibly lack a Y include: (1) translocation of SRY from the paternal Y to the paternal X during meiosis; (2) translocation of SRY from the paternal Y to a paternal autosome; (3) undetected mosaicism or chimaerism; and (4) autosomal sex-reversal genes. 46,XX true hermaphroditism 46,XX true hermaphrodites almost never show SRY or DNA sequences from their father s Y. Genes seem more likely explanations, given existence of sibships showing XX true hermaphroditism, or occurrence of both 46,XX males and 46,XX true hermaphrodites. In these kindreds 46,XX males usually show genital ambiguity, unlike the typical 46,XX male (Simpson, 2000). Selected Disorders of External Genital Development in 46,XX: Female Pseudohermaphroditism expected in 46,XX individuals. In male pseudohermaphroditism external genital development is at odds with that expected in 46,XY individuals. The most common cause of female pseudohermaphroditism is congenital adrenal hyperplasia, resulting from deficiencies of the various enzymes required for steroid biosynthesis (Figure 3): 21-hydroxylase, 11b-hydroxylase, and 3b-ol-dehydrogenase. In each disorder inheritance is autosomal recessive. These first two genes are mitochondrial P-450 enzymes, located on chromosomes 6 and 8, respectively. 3b-ol-Dehydrogenase is a microsomal enzyme coded by a gene on chromosome 1. In 21-hydroxylase deficiency molecular pathogenesis includes gene conversion involving a contiguous pseudogene, point mutations and deletions. In the other two enzyme deficiencies point mutations predominate and, as in 21-hydroxylase deficiency, no single nucleotide is consistently involved. The common pathogenesis involves decreased production of adrenal cortisol, a glucocorticoid that regulates secretion of adrenocorticotrophic hormone (ACTH) through negative feedback inhibition. If cortisol production is decreased, ACTH secretion increases. Elevated ACTH levels lead to increased quantities of steroid precursors, from which androgens can be synthesized. Because the fetal adrenal gland begins to function during the third month of embryogenesis, excessive production of adrenal androgens will virilize the external genitalia. Mu llerian and gonadal development are normal because neither is androgen dependent. In some disorders of sexual development, gonadal development is normal but abnormalities exist in external or internal genital development. In female pseudohermaphroditism external genital development is at odds with that 5
6 Selected Disorders of External Genital Development in 46,XY: Male Pseudohermaphroditism There are a number of different forms of male pseudohermaphroditism (Simpson, 2000). In male pseudohermaphroditism testes are present as expected for 46,XY individuals. However, external genitalia fail to develop as expected in males. Defects in testosterone biosynthesis Male pseudohermaphroditism (genital ambiguity) due to deficiencies in testosterone biosynthesis may result from deficiencies of 17a-hydroxylase, 17,20-desmolase, 3b-oldehydrogenase or 17-ketosteroid reductase (Figure 3). A mutation may also involve StAR, the protein responsible for transporting cholesterol to the nucleus in order that it can be converted to pregnenolone. Deficiencies of 21- or 11b-hydroxylase, the most common causes of female pseudohermaphroditism, do not cause male pseudohermaphroditism. Androgen insensitivity In complete androgen insensitivity (complete testicular feminization) 46,XY individuals show bilateral testes, female external genitalia, a blindly ending vagina and no mu llerian derivatives. These findings are entirely predictable given the pathogenesis: receptors that are unable to respond to testosterone. Antimu llerian hormone (AMH) is synthesized, as it is in the normal testis. Cells respond normally to AMH, for which reason müllerian derivatives regress as predicted. As also expected on the basis of the testes synthesizing oestrogens in unimpeded fashion, affected individuals manifest breast development and feminize at puberty. Partial androgen insensitivity results in genital ambiguity. A mild form affects only spermatogenesis. Both complete and partial androgen insensitivity result from mutations in the androgen receptor gene on Xq11 Xq12. This gene consists of eight exons; exons 2 and 3 are DNA-binding domains, whereas exons 4 to 8 are androgen-binding domains. Many different mutations have been reported, involving all exons. It is not always possible to predict phenotype on the basis of the mutation. 5a-Reductase deficiency These genetic males show ambiguous external genitalia at birth, but paradoxically virilize at puberty like normal males. They experience phallic enlargement, increased facial hair, muscular hypertrophy, and voice deepening, yet no breast development. Their external genitalia consist of a phallus that resembles a clitoris more than a penis, a perineal urethral orifice, and usually a separate, blindly ending, perineal orifice that resembles a vagina (pseudovagina). This disorder results from deficiency of the enzyme 5areductase, which is necessary to convert testosterone to dihydrotestosterone (DHT). That intracellular 5a-reductase deficiency results in this phenotype is consistent with virilization of the external genitalia during embryogenesis requiring dihydrotestosterone; wolffian differentiation requires only testosterone. Two 5a-reductase (SRD5) genes exist. The Type I gene is located on chromosome 5 (SRD5A1), the Type II gene (SRD5A2) on chromosome 2p23. Expressed in gonads, Type II mutations produce male pseudohermaphroditism. LH receptor defect (Leydig cell hypoplasia) In complete absence of Leydig cells 46,XY individuals show female external genitalia, no uterus and bilateral testes devoid of Leydig cells. The molecular basis is a mutation in the LH receptor gene, located on chromosome 2. Klinefelter Syndrome (Seminiferous Tubule Dysgenesis) Males with at least one Y chromosome and at least two X chromosomes have seminiferous tubule dysgenesis. Usually they are azoospermic or severely oligospermic. The clinical condition is called Klinefelter syndrome, the incidence of which is about 1 per 1000 (0.1%) liveborn males. As already noted, the demonstration in Klinefelter syndrome that the mammalian Y chromosome is capable of directing male differentiation irrespective of the number of X chromosomes was the first clear indication that sex determination was fundamentally different in mammals than in D. melanogaster. In the most common form of Klinefelter syndrome 47,XXY seminiferous tubules degenerate to be replaced with hyaline material. Spermatozoa are rare in semen analysis, but a few can usually be recovered at testicular biopsy for use in intracytoplasmic sperm injections (ICSI). External genitalia are usually well differentiated. In 80 90% of 47,XXY men penile size is in the normal range; however, after administration of androgens the penile length may still increase by 1 3 cm. The scrotum is usually well developed and vasa deferentia normal. The prostate is smaller than usual, presumably reflecting decreased androgen levels. Plasma testosterone is approximately half that of normal males. The decreased androgen production causes lack of normal secondary sexual development. 47,XXY patients are usually not retarded. 6
7 If mental retardation exists in a 47,XXY male, his IQ is usually Klinefelter syndrome may be associated with 46,XY/ 47,XXY mosaicism, the frequency of which is probably underestimated. 46,XY/47,XXY patients are less likely than 47,XXY patients to have azoospermia, small testes, or decreased facial or pubic hair. Mean plasma testosterone levels are also higher in 46,XY/47,XXY, and mature spermatozoa are more likely to be detected. The Klinefelter phenotype may also be associated with the complements 48,XXXY and 49,XXXY. In these forms mental retardation is consistently present. Somatic anomalies occur more often in 48,XXXY and 49,XXXXY than in 47,XXY. Mental retardation is often severe in the former two. 48,XXYY patients share some features with 47,XXY and other features with 47,XYY. Testicular hypoplasia results in poorly developed secondary sexual characteristics, and many 48,XXYY patients have mental retardation. Somatic anomalies present are reminiscent of those occurring in 48,XXXY and 49,XXXXY. References Bione S, Sala C, Manzini C et al. (1998) A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. American Journal of Human Genetics 62: German J, Simpson JL, Chaganti RSK et al. (1978) Genetically determined sex-reversal in 46,XY humans. Science 205: Jirasek J (1976) Principles of reproductive embryology. In: Simpson JL (ed.) Disorders of Sexual Differentiation, pp New York: Academic Press. Koopman P, Gubbay J, Vivian N, Goodfellow P and Lovell-Badge R (1991) Male development of chromosomally female mice transgenic for SRY. Nature 351: Ottolenghi C, Veitia R, Nunes M, Souleyreau-Therville N and Marc Fellous (1998) Genetics of sex determination and its pathology in man. In: Kempers RD (ed.) Fertility and Reproductive Medicine, pp Amsterdam: Elsevier Science. Simpson JL (1998) Genetics of oocyte depletion. In: Lobo RA (ed.) Perimenopause, Serono Symposia USA, Norwell, MA, pp New York: Springer-Verlag. Simpson JL (2000) Genetics of sexual differentiation. In: Carpenter SEK and Rock J (eds) Pediatric and Adolescent Gynecology. Philadelphia: Lippincott Williams & Wilkins. Simpson JL, Christakos AC, Horwith M and Silverman FS (1971) Gonadal dysgenesis associated with apparently chromosomal complements. Birth Defects 7(6): Sinclair AH, Berta P, Palmer MS et al. (1990) A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346: Yu RN, Ito M, Saunders TL, Camper SA and Jameson JL (1998) Role of Ahch in gonadal development and gametogenesis. Nature Genetics 20:
IN SUMMARY HST 071 NORMAL & ABNORMAL SEXUAL DIFFERENTIATION Fetal Sex Differentiation Postnatal Diagnosis and Management of Intersex Abnormalities
Harvard-MIT Division of Health Sciences and Technology HST.071: Human Reproductive Biology Course Director: Professor Henry Klapholz IN SUMMARY HST 071 Title: Fetal Sex Differentiation Postnatal Diagnosis
More informationChapter 18 Development. Sexual Differentiation
Chapter 18 Development Sexual Differentiation There Are Many Levels of Sex Determination Chromosomal Sex Gonadal Sex Internal Sex Organs External Sex Organs Brain Sex Gender Identity Gender Preference
More informationPHYSIOLOGY AND PATHOLOGY OF SEXUAL DIFFERENTIATION
PHYSIOLOGY AND PATHOLOGY OF SEXUAL DIFFERENTIATION Prof. Dr med. Jolanta Słowikowska-Hilczer Department of Andrology and Reproductive Endocrinology Medical University of Łódź, Poland Sexual determination
More informationDEFINITION: Masculinization of external genitalia in patients with normal 46XX karyotype.
INTERSEX DISORDERS DEFINITION: Masculinization of external genitalia in patients with normal 46XX karyotype. - Degree of masculinization variable: - mild clitoromegaly - complete fusion of labia folds
More informationSexual Development. 6 Stages of Development
6 Sexual Development 6 Stages of Development Development passes through distinct stages, the first of which is fertilization, when one sperm enters one ovum. To enter an ovum, a sperm must undergo the
More informationSex chromosomes and sex determination
Sex chromosomes and sex determination History (1) 1940-ties Alfred Jost embryo-surgical experiments on gonads gonadal sex; male gonadal sex presence of testes; female gonadal sex lack of testes. History
More informationApproach to Disorders of Sex Development (DSD)
Approach to Disorders of Sex Development (DSD) Old name: The Approach to Intersex Disorders Dr. Abdulmoein Al-Agha, FRCP Ass. Professor & Consultant Pediatric Endocrinologist, KAUH, Erfan Hospital & Ibn
More informationWhen testes make no testosterone: Identifying a rare cause of 46, XY female phenotype in adulthood
When testes make no testosterone: Identifying a rare cause of 46, XY female phenotype in adulthood Gardner DG, Shoback D. Greenspan's Basic & Clinical Endocrinology, 10e; 2017 Sira Korpaisarn, MD Endocrinology
More informationSISTEMA REPRODUCTOR (LA IDEA FIJA) Copyright 2004 Pearson Education, Inc., publishing as Benjamin Cummings
SISTEMA REPRODUCTOR (LA IDEA FIJA) How male and female reproductive systems differentiate The reproductive organs and how they work How gametes are produced and fertilized Pregnancy, stages of development,
More informationCh 20: Reproduction. Keypoints: Human Chromosomes Gametogenesis Fertilization Early development Parturition
Ch 20: Reproduction Keypoints: Human Chromosomes Gametogenesis Fertilization Early development Parturition SLOs Contrast mitosis/meiosis, haploid/diploid, autosomes/sex chromosomes. Outline the hormonal
More informationW.S. O University of Hong Kong
W.S. O University of Hong Kong Development of the Genital System 1. Sexual differentiation 2. Differentiation of the gonads a. Germ cells extragonadal in origin b. Genital ridge intermediate mesoderm consisting
More informationChapter 16: Steroid Hormones (Lecture 17)
Chapter 16: Steroid Hormones (Lecture 17) A) 21 or fewer carbon atoms B) Precursor: 27 carbon cholesterol C) major classes of steroid hormones 1) progestagens a) progesterone- prepares lining of uterus
More informationBiology of Reproduction- Zool 346 Exam 2
Biology of Reproduction- Zool 346 Exam 2 ANSWER ALL THE QUESTIONS ON THE ANSWER SHEET. THE ANSWER ON THE ANSWER SHEET IS YOUR OFFICIAL ANSWER. Some critical words are boldfaced. This exam is 7 pages long.
More informationChapter 7 DEVELOPMENT AND SEX DETERMINATION
Chapter 7 DEVELOPMENT AND SEX DETERMINATION Chapter Summary The male and female reproductive systems produce the sperm and eggs, and promote their meeting and fusion, which results in a fertilized egg.
More informationAction of reproductive hormones through the life span 9/22/99
Action of reproductive hormones through the life span Do reproductive hormones affect the life span? One hypothesis about the rate of aging asserts that there is selective pressure for either high rate
More informationDisordered Sex Differentiation Mixed gonadal dysgenesis Congenital adrenal hyperplasia Mixed gonadal dysgenesis
Disordered Sex Differentiation DSD has superceded intersex in describing genital anomalies in childhood DSD results from hormonal imbalances due to (i) abnormal genetic status, (ii) enzyme defects, or
More informationREPRODUCCIÓN. La idea fija. Copyright 2004 Pearson Education, Inc., publishing as Benjamin Cummings
REPRODUCCIÓN La idea fija How male and female reproductive systems differentiate The reproductive organs and how they work How gametes are produced and fertilized Pregnancy, stages of development, birth
More informationBiology of Reproduction-Biol 326
Biology of Reproduction-Biol 326 READ ALL INSTRUCTIONS CAREFULLY. ANSWER ALL THE QUESTIONS ON THE ANSWER SHEET. THE ANSWER ON THE ANSWER SHEET IS YOUR OFFICIAL ANSWER REGARDLESS OF WHAT YOU MARK ON THE
More informationDisorders of gonadal and sexual development
Disorders of gonadal and sexual development gonadal embryogenesis, cytogenetics/molecular abnormalities, and clinical aspects Pr I.Maystadt 08/01/2016 IPG Male Genitalia bladder prostate penis Seminal
More informationIntersex Genital Mutilations in ICD-10 Zwischengeschlecht.org / StopIGM.org 2014 (v2.1)
Intersex Genital Mutilations in ICD-10 Zwischengeschlecht.org / StopIGM.org 2014 (v2.1) ICD-10 Codes and Descriptions: http://apps.who.int/classifications/icd10/browse/2010/en 1. Reference: 17 Most Common
More informationChapter 22 The Reproductive System (I)
Chapter 22 The Reproductive System (I) An Overview of Reproductive Physiology o The Male Reproductive System o The Female Reproductive System 22.1 Reproductive System Overview Reproductive system = all
More informationOVOTESTIS Background Pathophysiology
OVOTESTIS Background Ovotestis refers to the histology of a gonad that contains both ovarian follicles and testicular tubular elements. Such gonads are found exclusively in people with ovotesticular disorder
More informationDEVELOPMENT (DSD) 1 4 DISORDERS OF SEX
Wit JM, Ranke MB, Kelnar CJH (eds): ESPE classification of paediatric endocrine diagnosis. 4. Disorders of sex development (DSD). Horm Res 2007;68(suppl 2):21 24 ESPE Code Diagnosis OMIM ICD 10 4 DISORDERS
More informationSCHOOL OF MEDICINE AND HEALTH SCIENCES DIVISION OF BASIC MEDICAL SCIENCES DISCIPLINE OF BIOCHEMISTRY & MOLECULAR BIOLOGY
1 SCHOOL OF MEDICINE AND HEALTH SCIENCES DIVISION OF BASIC MEDICAL SCIENCES DISCIPLINE OF BIOCHEMISTRY & MOLECULAR BIOLOGY PBL SEMINAR: SEX HORMONES PART 1 An Overview What are steroid hormones? Steroid
More informationLet s Talk About Hormones!
Let s Talk About Hormones! This lesson was created by Serena Reves and Nichelle Penney, with materials from the BCTF and The Pride Education Network. Hormones are responsible for the regulation of many
More informationFLASH CARDS. Kalat s Book Chapter 11 Alphabetical
FLASH CARDS www.biologicalpsych.com Kalat s Book Chapter 11 Alphabetical alpha-fetoprotein alpha-fetoprotein Alpha-Fetal Protein (AFP) or alpha-1- fetoprotein. During a prenatal sensitive period, estradiol
More informationSexual Reproduction. For most diploid eukaryotes, sexual reproduction is the only mechanism resulting in new members of a species.
Sex Determination Sexual Reproduction For most diploid eukaryotes, sexual reproduction is the only mechanism resulting in new members of a species. Meiosis in the sexual organs of parents produces haploid
More informationAnalysis of the Sex-determining Region of the Y Chromosome (SRY) in a Case of 46, XX True Hermaphrodite
Clin Pediatr Endocrinol 1994; 3(2): 91-95 Copyright (C) 1994 by The Japanese Society for Pediatric Endocrinology Analysis of the Sex-determining Region of the Y Chromosome (SRY) in a Case of 46, XX True
More informationAnimal Science 434 Reproductive Physiology"
Animal Science 434 Reproductive Physiology" Embryogenesis of the Pituitary and Sexual Development: Part A Development of the Pituitary Gland" Infundibulum" Brain" Rathke s Pouch" Stomodeum" Germ Cell Migration"
More informationNormal and Abnormal Development of the Genital Tract. Dr.Raghad Abdul-Halim
Normal and Abnormal Development of the Genital Tract Dr.Raghad Abdul-Halim objectives: Revision of embryology. Clinical presentation, investigations and clinical significance of most common developmental
More informationMohammad Sha ban. Basheq Jehad. Hamzah Nakhleh
11 Mohammad Sha ban Basheq Jehad Hamzah Nakhleh Physiology of the reproductive system In physiology, we are concerned with the mechanisms in which the system functions, and how the system responds to different
More information11. SEXUAL DIFFERENTIATION. Germinal cells, gonocytes. Indifferent stage INDIFFERENT STAGE
11. SEXUAL DIFFERENTIATION INDIFFERENT STAGE Early in pregnancy, (within 10-15 % of the pregnancy s expected length) a genital ridge is formed in the sides of the embryonic tissue, ventral to the mesonephros
More informationAnimal Science 434 Reproductive Physiology
Animal Science 434 Reproductive Physiology Development of the Pituitary Gland Lec 5: Embryogenesis of the Pituitary and Sexual Development Stomodeum Brain Infundibulum Rathke s Pouch Germ Cell Migration
More informationSex Determination and Development of Reproductive Organs
Sex Determination and Development of Reproductive Organs Sex determination The SRY + gene is necessary and probably sufficient for testis development The earliest sexual difference appears in the gonad
More information1) Intersexuality - Dr. Huda
1) Intersexuality - Dr. Huda DSD (Disorders of sex development) occur when there is disruption of either: Gonadal differentiation Fetal sex steroid production or action Mullerian abnormalities and Wolffian
More informationGoals. Disorders of Sex Development (Intersex): An Overview. Joshua May, MD Pediatric Endocrinology
Disorders of Sex Development (Intersex): An Overview Joshua May, MD Pediatric Endocrinology Murphy, et al., J Ped Adol Gynecol, 2011 Goals Objectives: Participants will be able to: 1. Apply the medical
More informationReproductive physiology. About this Chapter. Case introduction. The brain directs reproduction 2010/6/29. The Male Reproductive System
Section Ⅻ Reproductive physiology Ming-jie Wang E-Mail: mjwang@shmu.edu.cn About this Chapter The reproductive organs and how they work the major endocrine functions of sexual glands actions of sex hormones
More informationDevelopment of the Genital System
Development of the Genital System Professor Alfred Cuschieri Department of Anatomy University of Malta The mesonephros develops primitive nephrotomes draining into a mesonephric duct nephrotome mesonephric
More informationSexual differentiation:
Abnormal Development of Female Genitalia Dr. Maryam Fetal development of gonads, external genitalia, Mullerian ducts and Wolffian ducts can be disrupted at a variety of points, leading to a wide range
More information- production of two types of gametes -- fused at fertilization to form zygote
Male reproductive system I. Sexual reproduction -- overview - production of two types of gametes -- fused at fertilization to form zygote - promotes genetic variety among members of a species -- each offspring
More informationMartin Ritzén. bioscience explained Vol 7 No 2. Girl or boy: What guides gender development and how can this be a problem within
Martin Ritzén Professor emeritus, Karolinska Institutet, Stockholm, Sweden Girl or boy: What guides gender development and how can this be a problem within sport? Introduction During the 2009 athletics
More informationIB 140 Midterm #1 PRACTICE EXAM (lecture topics 1-5)
IB 140 Midterm #1 PRACTICE EXAM (lecture topics 1-5) For all the questions on this exam, the correct answer is the single best answer that is available in the answer key. 1) Which of the following is NOT
More informationTo General Embryology Dr: Azza Zaki
Introduction To General Embryology The Human Development is a continuous process that begins when an ovum from a female is fertilized by a sperm from a male. Cell division, growth and differentiation transform
More informationDAX1, testes development role 7, 8 DFFRY, spermatogenesis role 49 DMRT genes, male sex differentiation role 15
Subject Index N-Acetylcysteine, sperm quality effects 71 Ambiguous genitalia, origins 1, 2 Anti-Müllerian hormone function 13 receptors 13 Sertoli cell secretion 10, 38 Apoptosis assays in testes 73, 74
More information.Protein LYONIZATION. The process by which all X chromosomes in excess of one are made genetically inactive and heterochromatic.
+ Electrical field - LYONIZATION Colleen Jackson-Cook, Ph.D, FACMG Sanger Hall, Room 5-7 ccook@mcvh-vcu.edu The process by which all X chromosomes in excess of one are made genetically inactive and heterochromatic.
More informationChromosome pathology
Chromosome pathology S. Dahoun Department of Gynecology and Obstetrics, University Hospital of Geneva Cytogenetics is the study of chromosomes and the related disease states caused by abnormal chromosome
More informationMULTIPLE CHOICE. Choose the one alternative that best completes the statement or answers the question.
MULTIPLE CHOICE. Choose the one alternative that best completes the statement or answers the question. 1) Which of the following hormones controls the release of anterior pituitary gonadotropins? A) LH
More informationOutline. Male Reproductive System Testes and Sperm Hormonal Regulation
Outline Male Reproductive System Testes and Sperm Hormonal Regulation Female Reproductive System Genital Tract Hormonal Levels Uterine Cycle Fertilization and Pregnancy Control of Reproduction Infertility
More information1. Be able to characterize the menstrual cycle from the perspective of the ovary a. Follicular phase b. Luteal phase
Human Sexuality Exam II Review Material Gametogenesis: Oogenesis 1. Be able to characterize the menstrual cycle from the perspective of the ovary a. Follicular phase b. Luteal phase 2. Know the relative
More informationTestes (male gonads) -Produce sperm -Produce sex hormones -Found in a sac called the scrotum -Suspended outside of the body cavity for temperature
REPRODUCTION Testes (male gonads) -Produce sperm -Produce sex hormones -Found in a sac called the scrotum -Suspended outside of the body cavity for temperature reduction -Testes wall made of fibrous connective
More informationPlease Take Seats by Gender as Shown Leave Three Seats Empty in the Middle
Please Take Seats by Gender as Shown Leave Three Seats Empty in the Middle Women Men Sexual Differentiation & Development Neal G. Simon, Ph.D. Professor Dept. of Biological Sciences Signaling Cascade &
More informationReproductive Endocrinology. Isabel Hwang Department of Physiology Faculty of Medicine University of Hong Kong Hong Kong May2007
Reproductive Endocrinology Isabel Hwang Department of Physiology Faculty of Medicine University of Hong Kong Hong Kong May2007 isabelss@hkucc.hku.hk A 3-hormone chain of command controls reproduction with
More informationChapter 46 ~ Animal Reproduction
Chapter 46 ~ Animal Reproduction Overview Asexual (one parent) fission (parent separation) budding (corals) fragmentation & regeneration (inverts) parthenogenesis Sexual (fusion of haploid gametes) gametes
More informationAMBIGUOUS GENITALIA. Dr. HAKIMI, SpAK. Dr. MELDA DELIANA, SpAK
AMBIGUOUS GENITALIA (DISORDERS OF SEXUAL DEVELOPMENT) Dr. HAKIMI, SpAK Dr. MELDA DELIANA, SpAK Dr. SISKA MAYASARI LUBIS, SpA Pediatric Endocrinology division USU/H. ADAM MALIK HOSPITAL 1 INTRODUCTION Normal
More informationDefining Sex and Gender & The Biology of Sex
Defining Sex and Gender & The Biology of Sex Today: -Defining Sex and Gender -Conception of a Child -Chromosomes -Defects in Chromosomes Often we hear the terms sex and gender used in our society interchangeably,
More informationAnimal Development. Lecture 3. Germ Cells and Sex
Animal Development Lecture 3 Germ Cells and Sex 1 The ovary of sow. The ovary of mare. The ovary of cow. The ovary of ewe. 2 3 The ovary. A generalized vertebrate ovary. (Wilt and Hake, Ch 2, 2004) 4 The
More informationA CASE OF SEX REVERSAL SYNDROME WITH SEX-DETERMINING REGION (XX MALE)
Nagoya J. Med. Sci. 58. 111-115, 1995 A CASE OF SEX REVERSAL SYNDROME WITH SEX-DETERMINING REGION (XX MALE) MASANORI YAMAMOTO, KEISUKE YOKOI, SATOSHI KATSUNO, HATSUKI HIBI and Kon MIYAKE Department of
More informationDevelopment of the female Reproductive System. Dr. Susheela Rani
Development of the female Reproductive System Dr. Susheela Rani Genital System Gonads Internal genitals External genitals Determining sex chronology of events Genetic sex Determined at fertilization Gonadal
More informationUnit 15 ~ Learning Guide
Unit 15 ~ Learning Guide Name: INSTRUCTIONS Complete the following notes and questions as you work through the related lessons. You are required to have this package completed BEFORE you write your unit
More information10.7 The Reproductive Hormones
10.7 The Reproductive Hormones December 10, 2013. Website survey?? QUESTION: Who is more complicated: men or women? The Female Reproductive System ovaries: produce gametes (eggs) produce estrogen (steroid
More informationChapter 28: REPRODUCTIVE SYSTEM: MALE
Chapter 28: REPRODUCTIVE SYSTEM: MALE I. FUNCTIONAL ANATOMY (Fig. 28.1) A. Testes: glands which produce male gametes, as well as glands producing testosterone 2. Seminiferous tubules (Fig.28.3; 28.5) a.
More informationReproductive System. Testes. Accessory reproductive organs. gametogenesis hormones. Reproductive tract & Glands
Reproductive System Testes gametogenesis hormones Accessory reproductive organs Reproductive tract & Glands transport gametes provide nourishment for gametes Hormonal regulation in men Hypothalamus - puberty
More informationBiology of gender Sex chromosomes determine gonadal sex (testis-determining factor)
Indifferent ducts of embryo Biology of gender Sex chromosomes determine gonadal sex (testis-determining factor) Y chromosome present Y chromosome absent Phenotypic sex is depends on development of external
More informationBiology of gender Sex chromosomes determine gonadal sex (testis-determining factor)
Indifferent ducts of embryo Y chromosome present Y chromosome absent Male Female penis ovary uterus vagina testis Biology of gender Sex chromosomes determine gonadal sex (testis-determining factor) Phenotypic
More information2. Which of the following factors does not contribute to ion selectivity?
General Biology Summer 2014 Exam II Sample Answers 1. Which of the following is TRUE about a neuron at rest? A. The cytosol is positive relative to the outside B. Na+ concentrations are higher inside C.
More informationHearing on SJR13 -- Proposes to amend the Nevada Constitution by repealing the limitation on the recognition of marriage.
Written statement of Lauren A. Scott- Executive Director Equality Nevada. 1350 Freeport Blvd, #107 Sparks, Nevada 89431 Testimony and Statement for the Record of Hearing on SJR13 -- Proposes to amend the
More informationBios 90/95. Jennifer Swann, PhD
Sexual Differentiation Fall 2007 Bios 90/95 Jennifer Swann, PhD Dept Biol Sci, Lehigh University Why have sexes? What determines sex? Environment Genetics Hormones What causes these differences? The true
More informationClinical evaluation of infertility
Clinical evaluation of infertility DR. FARIBA KHANIPOUYANI OBSTETRICIAN & GYNECOLOGIST PRENATOLOGIST Definition: inability to achieve conception despite one year of frequent unprotected intercourse. Male
More informationReproductive Hormones
Reproductive Hormones Male gonads: testes produce male sex cells! sperm Female gonads: ovaries produce female sex cells! ovum The union of male and female sex cells during fertilization produces a zygote
More informationMale Reproduction Organs. 1. Testes 2. Epididymis 3. Vas deferens 4. Urethra 5. Penis 6. Prostate 7. Seminal vesicles 8. Bulbourethral glands
Outline Terminology Human Reproduction Biol 105 Lecture Packet 21 Chapter 17 I. Male Reproduction A. Reproductive organs B. Sperm development II. Female Reproduction A. Reproductive organs B. Egg development
More information9.4 Regulating the Reproductive System
9.4 Regulating the Reproductive System The Reproductive System to unite a single reproductive cell from a female with a single reproductive cell from a male Both male and female reproductive systems include
More informationThe menstrual cycle. François Pralong
The menstrual cycle François Pralong Services d Endocrinologie, Diabétologie et Métabolisme, Hôpitaux Universitaires de Genève et Lausanne Centre des Maladies CardioVasculaires et Métaboliques, Lausanne
More informationThe menstrual Cycle. François Pralong
The menstrual Cycle François Pralong Services d Endocrinologie, Diabétologie et Métabolisme, Hôpitaux Universitaires de Genève et Lausanne Centre des Maladies CardioVasculaires et Métaboliques, Lausanne
More informationto ensure the. Sexual reproduction requires the (from the mother) by a (from the father). Fertilization is the fusion of.
The Reproductive System Fill-In Notes Purpose of life: to ensure the. Stages of Human Development Sexual reproduction requires the (from the mother) by a (from the father). Fertilization is the fusion
More informationBIOL 2402 Reproductive Systems!
Dr. Chris Doumen! Female Reproductive Anatomy BIOL 2402 Reproductive Systems! Establishing the Ovarian Cycle During childhood, until puberty Ovaries grow and secrete small amounts of estrogens Estrogen
More informationMULTIPLE CHOICE: match the term(s) or description with the appropriate letter of the structure.
Chapter 27 Exam Due NLT Thursday, July 31, 2015 Name MULTIPLE CHOICE: match the term(s) or description with the appropriate letter of the structure. Figure 27.1 Using Figure 27.1, match the following:
More informationGenetics Aspects of Male infertility
Genetics Aspects of Male infertility A. Ebrahimi, Molecular Genetic SM Kalantar, Prof. Molecular Cytogenetic Research & Clinical Centre for Infertility, Reproductive & Genetic Unit, Yazd Medical Sciences
More informationHearing on SJR13 -- Proposes to amend the Nevada Constitution by repealing the limitation on the recognition of marriage.
Written statement of Lauren A. Scott- Executive Director Equality Nevada 1350 Freeport Blvd, #107 Sparks, Nevada 89431 Testimony and Statement for the Record of Hearing on SJR13 -- Proposes to amend the
More informationAnimal Reproduction Chapter 46. Fission. Budding. Parthenogenesis. Fragmentation 11/27/2017
Animal Reproduction Chapter 46 Both asexual and sexual reproduction occur in the animal kingdom Sexual reproduction is the creation of an offspring by fusion of a male gamete (sperm) and female gamete
More informationSex Differentiation. Course Outline. Topic #! Topic lecture! Silverthorn! Membranes (pre-requisite material)!!
Sex Differentiation The goal of these lectures is to discuss how a control system is formed. For this, we will use basic physiology associated with the control of reproduction (from sexual differentiation
More informationChapter 14 The Reproductive System
Biology 12 Name: Reproductive System Per: Date: Chapter 14 The Reproductive System Complete using BC Biology 12, page 436-467 14. 1 Male Reproductive System pages 440-443 1. Distinguish between gametes
More informationObjectives: 1. Review male & female reproductive anatomy 2. Gametogenesis & steroidogenesis 3. Reproductive problems
CH. 15 - REPRODUCTIVE SYSTEM Objectives: 1. Review male & female reproductive anatomy 2. Gametogenesis & steroidogenesis 3. Reproductive problems 3. Male Reproductive anatomy and physiology. Testes = paired
More informationWhat are the main functions of the male reproductive system? 1. Produce sperm 2. Deposit sperm into the female 3. Provide a pathway for the removal
What are the main functions of the male reproductive system? 1. Produce sperm 2. Deposit sperm into the female 3. Provide a pathway for the removal of urine Where is sperm produced? -In the 2 testes What
More informationAP Biology Ch ANIMAL REPRODUCTION. Using only what you already know (you cannot look up anything) complete the chart below.
AP Biology Ch. 46 - ANIMAL REPRODUCTION Using only what you already know (you cannot look up anything) complete the chart below. I. Overview of Animal Reproduction A. Both asexual and sexual reproduction
More informationReproductive physiology
Reproductive physiology Sex hormones: Androgens Estrogens Gestagens Learning objectives 86 (also 90) Sex Genetic sex Gonadal sex Phenotypic sex XY - XX chromosomes testes - ovaries external features Tha
More informationAMBIGUOUS GENITALIA & CONGENITAL ADRENALHYPERPLASIA
AMBIGUOUS GENITALIA & CONGENITAL ADRENALHYPERPLASIA BY Dr Numair Ali sheikh FCPS PGT I Department Of Pediatrics BBH RWP AMBIGUOUS GENITALIA Children born with ambiguous genitalia may be subdivided in to
More informationChapter 14 Reproduction Review Assignment
Date: Mark: _/45 Chapter 14 Reproduction Review Assignment Multiple Choice Identify the choice that best completes the statement or answers the question. 1. Use the diagram above to answer the next question.
More informationSexual Differentiation. Physiological Psychology PSYC370 Thomas E. Van Cantfort, Ph.D. Sexual Differentiation. Sexual Differentiation (continued)
Physiological Psychology PSYC370 Thomas E. Van Cantfort, Ph.D. Sexual Differentiation Sexual Differentiation Reproductive behavior constitute the most important category of social behavior, Ú because without
More informationC. Patrick Shahan, MD University of Tennessee Health Science Center Department of Surgery
C. Patrick Shahan, MD University of Tennessee Health Science Center Department of Surgery Drop use of hermaphrodite and derivatives 1 in 15,000 live births Congenital Adrenal Hyperplasia Mixed Gonadal
More informationReproduction Lecture Spring 2009
Reproduction Lecture Spring 2009 Slide #2: The term gonads refer to the sex organs. In the male, these are the testes, and the in the female, the ovary. The produce sex cells, or gametes. The male gamete
More informationDevelopment of the urogenital system
Development of the urogenital system Location of the pronephros, mesonephros and metanephros Differentiation of the intermedierm mesoderm into nephrotome and mesonephric tubules Connection between aorta
More informationThe Biology of Sex: How We Become Male or Female.
The Biology of Sex: How We Become Male or Female. Dr. Tamatha Barbeau, Dept. of Biology Guest Lecture for Gender 200 March 2017 Objectives: 1. Sex vs. Gender defined. 2. Biological sex based on inheritance
More information2. Which male target tissues respond to testosterone, and which require dihydrotestosterone?
308 PHYSIOLOGY CASES AND PROBLEMS Case 56 Male Pseudohermaphroditism: Sa-Reductase Deficiency Fourteen years ago, Wally and Wanda Garvey, who live in rural North Carolina, had their first child. The baby
More informationBIOSYNTHESIS OF STEROID HORMONES
BIOSYNTHESIS OF STEROID HORMONES Sri Widia A Jusman Department of Biochemistry & Molecular Biology FMUI sw/steroidrepro/inter/08 1 STEROID HORMONES Progestins (21 C) Glucocorticoids (21 C) Mineralocorticoids
More informationSEX DETERMINATION AND SEX CHROMOSOMES
Klug et al. 2006, 2009 Concepts of Genetics Chapter 7 STUDY UNIT 5 SEX DETERMINATION AND SEX CHROMOSOMES Some species reproduce asexually Most diploid eukaryotes reproduce sexually Parent (2n) Parent (2n)
More information1042SCG Genetics & Evolutionary Biology Semester Summary
1042SCG Genetics & Evolutionary Biology Semester Summary Griffith University, Nathan Campus Semester 1, 2014 Topics include: - Mendelian Genetics - Eukaryotic & Prokaryotic Genes - Sex Chromosomes - Variations
More informationCell Divisions. The autosomes represent the whole body. * Male Sex Chromosomes: XY * Female Sex Chromosomes: XX
Cell Divisions Each Cell (including gonads) has 46 chromosomes (23 pairs of chromosomes: 22 pairs of autosomes, 1 pair of sex chromosomes) which are located in the nucleus). The autosomes represent the
More informationa. the tail disappears b. they become spermatids c. they undergo capacitation d. they have been stored in the uterus for several days
(2 points each) Multiple Choice. Read each question thoroughly before answering. From the choices available, choose the answer that is the most correct. Place all answers on the accompanying answer sheet.
More informationPhysiology of Male Reproductive System
Physiology of Male Reproductive System the anterior pituitary gland serves as the primary control of reproductive function at puberty Ant Pituitary secretes FSH & large amounts of LH (ICSH) FSH & LH cause
More informationThe Reproductive System
C h a p t e r 27 The Reproductive System PowerPoint Lecture Slides prepared by Jason LaPres North Harris College Houston, Texas Copyright 2009 Pearson Education, Inc., publishing as Pearson Benjamin Cummings
More information