Phimosis. Advise parents not to retract the foreskin of an infant to prevent scarring
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1 Phimosis Is a condition of the penis where the foreskin cannot be fully retracted over the glans penis. Long distal part of preputium lasting over 2d. year of life Wide spectrum of disorder- from slightly noticed circumcised ring to overall closed one At birth, the inner layer of the foreskin is sealed to the glans penis. - is usually non-retractable in infancy and early childhood. ( < 2y.) Advise parents not to retract the foreskin of an infant to prevent scarring May couse preputium's inflamation or ascedent urinary tract inflammation
2 Phimosis Some authors, has suggested that true phimosis is over-diagnosed due to failure to distinguish between normal developmental non-retractability and a pathological condition. Some states that full retractability of the foreskin may not be achieved until late childhood or early adulthood Some authors use the terms "physiologic" and "pathologic" to distinguish between these types of phimosis; Pathological - pain with urination or has obvious ballooning of the foreskin with urination or apparent discomfort ; performing common sexual functions. Advise parents not to retract the foreskin of an infant to prevent scarring.
3 Phimosis Mechanical conditions that prevent foreskin retraction: 1. The tip of the foreskin is too narrow to pass over the glans penis. This is normal in children and adolescents. 2. The inner surface of the foreskin is fused with the glans penis- This is normal in children and adolescents but abnormal in adults 3. The frenulum is too short to allow complete retraction of the foreskin (frenulum breve) Pathological phimosis may arise from balanitis (inflammation of the glans penis), scarring due to mechanical injuries, Phimosis may occur after other types of chronic inflammation, repeated catheterization, or forcible foreskin retraction Phimosis in older children and adults can vary in severity, with some able to retract their foreskin partially (relative phimosis), and some completely unable to retract their foreskin
4 Phimosis Choice of treatment is often determined by whether circumcision is viewed Nonsurgical -Topical steroid creams - betamethasone, mometasone furoate and cortisone They work by reducing the body's inflammatory and immune responses, and also by thinning the skin. -Stretching of the foreskin -Skin that is under tension expands by growing additional cells. A permanent increase in size occurs by gentle stretching over a period of time. Works only if is non-traumatic and non-destructive!!!. Surgical methods range from the complete removal of the foreskin to more minor operations to relieve foreskin tightness: -Circumcision -Dorsal slit (superincision) is a single incision along the upper length of the foreskin - -Ventral slit (subterincision) is an incision along the lower length of the foreskin, removing the frenulum in the process (advised if frenulum breve occurs ) -Preputioplasty, in which a limited dorsal slit with transverse closure can be an effective alternative to circumcision
5 Paraphimosis is a medical condition where the foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis If persists for several hours or there is any sign of a lack of blood flow, should be treated as a medical emergency, as it can result necrosis Caused by inproprate handling with foreskin- retracted during penile examination, penile cleaning, urethral catheterization, or cystoscopy; Phimosis (both pathologic and normal childhood physiologic forms) is a risk factor for paraphimosis; Paraphimosis can often be effectively treated by manual manipulation of the swollen foreskin tissue ( compressing the glans and moving the foreskin back to its normal position) An alternative method-ls placing multiple punctures in the swollen foreskin with a fine needle, and then expressing the edema fluid by manual pressure. At least treatment by circumcision
6 Criptorchidism A testis can be found: along the "path of descent" from high in the posterior (retroperitoneal) abdomen, just below the kidney, to the inguinal ring; in the inguinal canal; ectopically, that is, to have "wandered" from that path, usually outside the inguinal canal and sometimes even under the skin of the thigh, the perineum, the opposite scrotum, or the femoral canal; undeveloped (hypoplastic) or severely abnormal (dysgenetic); to have vanished (also see anorchia).
7 Cryptorchidism The testes begin as an immigration as an early embryo. During the 3rd to 5th months, the cells in the testes differentiate into testosterone-producing Leydig cells, and anti-müllerian hormone-producing Sertoli cells. Male external genitalia develop during the 3rd and 4th months of gestation and the fetus continues to grow, develop, and differentiate. The testes remain high in the abdomen until the 7th month of gestation, when they move from the abdomen through the inguinal canals into the two sides of the scrotum. Descendig is controlled of somewhat different factors: -anti-müllerian hormone (AMH) -androgens (most importantly testosterone)- Maldevelopment of the gubernaculum, or deficiency or insensitivity to either AMH or androgen can therefore prevent the testes from descending into the scrotum.
8 Criptoorchidism In many infants with inguinal testes, further descent of the testes into the scrotum occurs in the first 6 months of life. Most normal-appearing undescended testis are also normal by microscopic examination, but reduced spermatogonia can be found. The tissue in undescended testes can degenerate. Some authors claim that early orchiopexy reduces this degeneration.
9 Criprorchidism risk factors Severely premature infants Low birth weight Environmental chemicals called endocrine disruptors Diabetes and obesity in the mother. Regular alcohol consumption during pregnancy Cigarette smoking is also a known risk factor.[3] Family history of undescended testicle or other problems of genital development Occurs at a much higher rate in a large number of congenital malformation syndromes- Down syndrome, Prader Willi syndrome, and Noonan syndrome Taking mild analgesics including ibuprofen and paracetamol or acetaminophen
10 Criptorchidism- diagnosis Distinguish with a retractile testis - are more common than truly undescended testes ( connected with hyperreflexity of cremaster muscle) Pelvic ultrasound or magnetic resonance A karyotype can confirm or exclude forms of dysgenetic primary hypogonadism, - Klinefelter syndrome, mixed gonadal dysgenesis. Bilaterary- may detect an intersex condition!!! Hormone levels (especially gonadotropins and AMH) can help confirm that there are hormonally functional testes -Some authors stimulate with a few injections of human chorionic gonadotropin to elicit a rise of the testosterone level. Due to impaired androgen synthesis or reduced sensitivity., AMH deficiency or insensitivity, severely virilized genetic female with congenital adrenal hyperplasia.,
11 Criptorchidism treatment The primary management of cryptorchidism is watchful waiting, due to the high likelihood of self-resolution. If inguinal testes have not descended after 4 6 months- SURGERY usually at age 1-2. Some authors if testis is in the inguinal canal- hormonal therapy- very occasionally successful. (human chorionic gonadotropin - HCG, GnRH analogs - nafarelin or buserelin; Orchiopexy (An incision is made over the inguinal canal. The testis with accompanying cord structure and blood supply is exposed, partially mobilized, and brought into the scrotum. By the way an inguinal hernia is closed. Intraabdominal maldescended testis- laparoscopy ( single or staged procedure ). Major complication of all types of orchiopexy is loss of the blood supply to the testis, resulting in loss of the testis due to ischemic atrophy or fibrosis.
12 Criptoorchidism- Cancer One of the strongest arguments for early orchiopexy is prevention of testicular cancer. The peak incidence occurs in the 3rd and 4th decades of life. The risk is higher for intra-abdominal testes and somewhat lower for inguinal testes The normally descended testis of a man whose other testis was undescended has about a 20% higher cancer risk The most common type of testicular cancer is seminoma. The risk of malignancy in the undescended testis is higher than that in the general population ( more often in bilateral)
13 Hypospodiasis A birth defect of the urethra in the male reffering as a dislocation of a urinary opening Second most common birth abnormality in boys Just part of multiple syndrome: In most cases the foreskin is also underdeveloped and does not wrap completely around the penis, leaving the underside of the glans penis uncovered. Downward curvature of the penis - can impair sexual activity as an adult May occuers wiith bended penis, commonly referred to as chordee The scrotum may be higher than usual THEORY-unknown, is thought to result from failure of the urinary channel to completely tubularize to the end of the penis. The most common associated defect is an undescended testicle- then sometimes indicates a disorder of sexual differentiation,
14
15 Hypospodiasis Is usually diagnosed in newborn by the characteristic appearance of the penis. The treatment recommended for hypospadias is surgery- with the goal to restore normal appearance and function to the penis. Surgery extends the urinary channel to the end of the penis, straightens bending, and corrects the foreskin When the is severe degree of condition, or there are associated birth defects such as chordee or cryptorchidism,- NECESSARY -karyotype and endocrine evaluation - detect intersex conditions or hormone deficiencies. Testosterone or human chorionic gonadotropin (hcg) injections before surgery- stimulate growth of penis
16 Hypospadiasis treatment Surgical repair of severe hypospadias may require multiple procedures and mucosal grafting. Preputial skin is often used for grafting and circumcision should be avoided before repair. Surgery produces complications- scarring, curvature, or formation of urethral fistulas, diverticula, or strictures narrowing of the urethra severe enough to obstruct flow. Repair can be done at 3-6 months or in older. There are many techniques which have been used during the past 100 years to extend the urinary channel to the correct location Most distal and many proximal hypospadias are corrected in a single operation. Severe condition having a urinary opening in the scrotum and downward bending of the penis are often corrected in a 2-stage operation. During the first operation the curvature is straightened. At the second, the urinary channel is completed.
17 Hypospodiasis treatment methods 1.Urethral mobilisation I MAGPI midline vertical incision closed transversely and mobilization. UGPI modification of MAGPI by having a V-shaped incision around the original meatus, and having deep glanular wings before urethral advancement and upward rotation of the glanular wings. 2.Skin distal to the meatus 2a.Use of ventral skin distal to the meatus to reconstruct a completely epithelialized neo-urethra U-shaped incision as first described by Thiersch (1869). Notice the U incision is not central to avoid suture lines on top of each other. Pyramid repair by Duckett and Keating (1989) for Megameatus Intact prepuce (MIP). glanular hypospadias with cleft glans. DUG repair by Stock and Hanna (1997) combining U-shaped incision with vertical midline incision closed transversely.
18 II 2b.Use of ventral skin distal to the meatus to reconstruct a partially epithelialized neo-urethra Duplay incomplete urethroplasty Denis Browne technique Snodgrass Tubularized Incised Plate (TIP) urethroplasty 3.Skin proximal to the meatus Wood - described meatal based flap with button hole of prepuce Omberdanne (1911) repair, a large round flap, and a purse string suture Mathieu repair (1932), a U-shaped incision and two suture lines Mustarde repair (1965), a rectangular flap and one suture line Barcat balanic groove technique (1969), and a deep midline incision Hadidi (1996) Y-V glanuloplasty modified Mathieu. A Y incision in the glans, the center at the tip of glans, closed as a V and "dog-ears" opened. A small V is excised from the distal end of the flap.
19 III 4.Preputial skin Button holing of the prepuce described by Thiersch (1869). Midline incision of the prepuce described by Edmunds (1913) and Byars Preputial skin as a skin graft to cover the ventral defect of the penis described by Nove-Josserand (1897) and Bracka (1995). Preputial skin as a free skin graft to form the neo-urethra described by Devine and Horton (1961). Preputial Island Flap as described by Hook (1896), and Duckett (1980). Onlay Island Flap as described by Elder (1987). Preputial vascular fascia as a second protective layer described by Retik (
20 Methods
21 IV 5. Combined use of prepuce and the skin proximal to the meatus Lateral oblique flap from the side of the penis suggested by Hook (1896). One stage repair for proximal hypospadias by Broadbent (1961). Parameatal foreskin flap described by Koyanagi (1983). Yoke repair described by Snow (1994). Lateral based flap combined with Y-V glanuloplasty described by Hadidi 6. Scrotal skin Bouisson (1861) was the first to use scrotal skin for urethral reconstruction. Rosenberger (1891) used scrotal tissue for urethroplasty and buried the penis in scrotum. Rochet (1899) used a large scrotal flap for total urethroplasty. Lowsley and Begg (1938) constructed a long urethral tube from scrotum. Beck (1897) suggested Duplay type of urethroplasty and used a rotation flap from scrotum for coverage.
22 V Cecil (1946) used a modification of Rosenberger operation following reconstruction of the urethra from ventral penile skin. 6. Dorsal penile skin Davis in 1940 tubed the dorsal penile skin with the base proximal in the direction of the circulation. The penile gymnastics required for the Davis procedure apparently seemed too demanding for most surgeons. 7.Different grafts Nove-Josserand (1897) used a split thickness skin graft on a metal probe. Devine and Horton (1961) used preputial full thickness skin graft in single stage repair. Bracka (1995) used full thickness skin graft in two stage repair. Mommelaar (1947) used bladder mucosa for urethral reconstruction. Humby (1941) first described the use of buccal mucosa for urethral reconstruction.
23 VI
24 Epispadiasis Is a rare type of malformation of the penis in which the urethra ends in an opening on the upper aspect (the dorsum) of the penis. It can also develop in females when the urethra develops too far anteriorly. It occurs as a result of defective migration of the genital tubercle primordii to the cloacal membrane- at early gastrulation Isolated- most cases involve a small and bifid penis, As a part of exstrophy - epispadias complex.- uncommon and partial form of a spectrum of failures of abdominal and pelvic fusion in the first months of embryogenesis As a part of a larger exstrophy- the urethra and the bladder (bladder exstrophy) or the entire perineum (cloacal exstrophy) are open and exposed on birth, requiring closure
25 Epispadiasis- woman Famianal epispadiasis - the urethra develops too far anteriorly, exiting in the clitoris or even more forward. May not cause difficulty in urination but may cause problems with sexual funtion Frequently, the clitoris is bifurcated at the site of urethral exit
26 Treatment GOAL- surgical closure soon after birth, often including a reconstruction of the urethra. Treatment of isolated condition is a comprehensive surgical repair of the genito-urinary area usually during the first 7 years of life, including - reconstruction of the urethra, - closure of the penile shaft -mobilisation of the corpora The most popular and successful technique is known as the modified Cantwell-Ransley approach.
27 Epispadiasis - prognosis Long-term problems with : incontinence, where serious usually treated with some form of continent urinary diversion such as the Mitrofanoff depression and psycho-social complications sexual dysfunction
28 Hermaphroditism The condition of having both male and female reproductive organs Having an ambiguous-looking external genitalia, - true hermaphroditism (3)-the person's karyotype has both XX and XY chromosome pairs (47XXY, 46XX/46XY, 46XX/47XXY or 45X/XY mosaic) and having both testicular and ovarian tissue. -pseudohermaphrooditism (1) -mixed gonadal dysgenesis(2) Propably as a result of a parthenogenetic division of a haploid ovum into two haploid ovaand cousing having dual genitalial, gonadal (ovotestes) and genetic sex. Common cause of hermaphroditism is the crossing over of the SRY from the Y chromosome to the X chromosome during meiosis. - When SRY is activated causing development of testes. Thus, testicular and ovarian tissues will both be present in the same time
29 True hermaphroditism is an intersex condition-person is born with ovarian and testicular tissue. An ovotestis (containing both types of tissue). Similar in some ways to mixed gonadal dysgenesis- distinguished histologically CAUSED: -by the division of one ovum in early development. -an ovum can be fertilized by two sperm followed by trisomic rescue in one or more daughter cells. -two ova fertilized by two sperm will occasionally fuse to form a tetragametic chimera. - may be associated with mutation in the SRY gene
30 T.H. Karyotypes are 47XXY, 46XX/46XY, or 46XX/47XXY, and various degrees of mosaicism External genitalia are mostly (75%) masculine, more rare ambiguous and femine- the degree depending mainly on the amount of testosterone produced by the testicular tissue Fertility is possible Types: -the testis on one side and the ovary on second one -testis/ovary on one side and ovotestis ( alway including ovaryduct! ) on second one -ovotestis on both sides May have normal breast and ovarian ducts
31 Pseudohermaphroditism Is the condition in which an organism is born with primary sex characteristics of one sex but develops the secondary sex characteristics- are different from what would be expected on the basis of the gonadal tissue (ovary or testis). In some cases, the external sex organs look intermediate between a typical clitoris or penis. In other cases, the external sex organs have an appearance that would be expected to be seen with the "opposite" gonadal tissue. Sometimes is not identified until puberty. Types 1.male pseudohermaphrodite -46XY -testis is present, -external sex organs male, female or ambiquos -defect of testosteron's synthesis ( M external and internal sex organs) -5-α-reductase deficiency ( M external sex organs)
32 Psudohermaphroditism Complete Androgen Insensitivity Syndrome (CAIS)- Morrison;syndrome- -lack of androgen's receptores in scrotum- causing non development external sex organs - have primary and secondary sexual characteristics typical of other women; - genetically XY and have internal testes, rather than ovaries.- -unable to biologically reproduce. -often with cryptoorchidism 2. female pseudohermaphrodite -an ovary is present -46XX -external sex organs male, female or ambiquos Degree of maskulinisation Prader's Range( I-V)
33 Psuedohermaphroditism 17β-Hydroxysteroid dehydrogenase deficiency -AR - a rare disorder of sexual development affecting testosterone biosynthesis by 17β-hydroxysteroid dehydrogenase III (17β-HSD III) causing impaired virilization (traditionally termed male pseudohermaphroditism) of genetically male infants and children and excessive virilization of female adults. -can affect the primary and/or secondary sex characteristics of both males and females. -clinically characterized by either ambiguous external genitalia or complete female external genitalia at birth in 46XY - If diagnosed in adolescence, first noticible symptme is absence of menarche -Begin to virilize during puberty(slowly become more like a man; deepening of the voice, acne, male musculature)
34 Psudohermaphroditism Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency (AR) -is an uncommon form of congenital adrenal hyperplasia resulting from a defect in the gene CYP17A1 encodes for the enzyme 17α-hydroxylase. -decreased synthesis of both cortisol and sex steroids with increase in mineralocorticoid production. 1. Due to inadequate mineralocorticoids: -vomiting due to salt-wasting leading to dehydration and death -aldosterone deficiency -hyponatriemia -hypovolemia
35 CAH 2. Due to excess androgens: functional and average sized penis in cases involving extreme virilization ambiguous genitalia, in some females, such that it can be initially difficult to identify external genitalia as "male" or "female". early pubic hair and rapid growth in childhood precocious puberty or failure of puberty to occur (sexual infantilism: absent or delayed puberty) excessive facial hair, virilization, and/or menstrual irregularity in adolescence infertility due to anovulation enlarged clitoris and shallow vagina
36 CAH -common symptoms include mild hypocortisolism, ambiguous genitalia in genetic males or failure of the ovaries to function at puberty in genetic females, and hypertension (respectively) -Hypertension and mineralocorticoid excess is treated with glucocorticoid replacement, as in other forms of CAH. -Genetic females -have ambiguous genitalia due to exposure to high concentrations of androgens in utero. Young woman -early pubarche,pos -Genetic females will need replacement estrogen to induce puberty and periodic progestin to regularize menses. Fertility is usually reduced.- reduced intra-ovarian steroid production. -Genetic males- generally have no signs at birth. Some may present with hyperpigmentation and possible penile enlargement or other signs of virilization -Genetic males severely undervirilized, looking more female than male-will need testosterone replacement in order for puberty to occur and continued throughout adult life.
37 CAH treatment supplying enough glucocorticoids to reduce hyperplasia and overproduction of androgens or mineralocorticoids providing replacement mineralocorticoid and extra salt if the person is deficient providing replacement testosterone or estrogen at puberty if the person is deficient additional treatments to optimize growth by delaying puberty or delaying bone maturation
38 Mixed CAH Is a condition of unusual and asymmetrical gonadal development leading to an unassigned sex differentiation. Most commonly a mosaicism 45,X/46,XY. (incl. Turner syndrome) The phenotypical expression may be ambiguous, intersex, or male or female depending on the extent of the mosaicism. Presence of dysgenetic gonadal tissue and Y chromosome material- high risk of the development of a gonadoblastoma - removal of the gonads! The conditions can be distinguished histologically. Physically similar to psuedohermaphroditism If cryptoorchidism occures- orchidectomy
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