Disorders of gonadal and sexual development

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1 Disorders of gonadal and sexual development gonadal embryogenesis, cytogenetics/molecular abnormalities, and clinical aspects Pr I.Maystadt 08/01/2016 IPG

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3 Male Genitalia bladder prostate penis Seminal vesicle epididymis testicle Vas deferens Cowper Gland IPG

4 Female Genitalia Fallopian tube Fallopian tube ovary uterus ovary vagina IPG

5 GONADAL AND GENITAL EMBRYOGENESIS

6

7 INNER CELL MASS (> embryo) TROPHOBLAST (> placenta) DAY 3-4 DAY 5 MORULA BLASTOCYST

8 2 nd WEEK: Bilaminar Embryonic Disc

9 3rd WEEK: trilaminar embryonic disc MESODERM 4-8 WEEKS: Development of the urinary system

10 5-12 WEEKS: Development of the genital system

11 End of the 8th week

12 Mesoderm differentiation

13 Mesoderm differentiation Nephrogenic cord Pronephros Mesonephros Metanephros

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15 Pronephros (4th week) Rudimentary primitive glomerular and tubular structures in the neck region, which quickly degenerate Wolff duct

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17 Mesonephros (4-5th weeks) = interim kidney Glomeruli Mesonephric tubules Wolff duct (mesonephric duct)

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19 Metanephros (5-8th weeks) = permanent kidney

20 Gonadal differentiation

21 Migration of the primordial germ cells into the mesonephros (5th week)

22 Indifferent gonads (5th week) Wolff/mesonephric duct (cw) Muller duct (paramesonephric duct) Gonadal ridges Primary sex cords Primordial germ cells

23 Development of testes (7th week) Rete testis Efferent ductules Ductus epididymis Tunica Albuginea Seminifereous tubules - Leydig cells (> testosterone) - Sertoli cells (> ABP and MIS) ABP: Androgen Binding Protein MIS: Mullerian inhibiting substance

24 Development of testes (7th week) Indifferent Gonad 3 Testis 1. Primary sex cords > seminifereous tubules 1 1 4a Rete > rete testis Mesonephric tubules > efferent ductules 5 5 4b 4. Wolff/Mesonephric duct > ductus epididymis (a) > vas deferens (b) > seminal vesicle (c) 4c 5. Muller/paramesonephric duct: degenerates (MIS)

25 Development of ovaries (10th week) Mesonephrotic tubule Muller/paramesonephric duct Wolff/mesonephric duct Primary sex cords Secondary sex cords (cortical cords) Muller/paramesonephric duct Degenerating rete ovarii Primordial ovarian follicle

26 Development of ovaries (10th week) Indifferent Gonad Ovary Primary sex cords > rete ovarii 2. Secondary sex cords > primordial follicles a 3. Mesonephric tubules degenerate 4. Muller/paramesonephric duct > Fallopian tubes(a) > uterus (b) > upper vagina(c) Wolff/mesonephric duct: degenerates 4 b et 4c

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28 External Genitalia

29 Genital tubercle (TG) Urogenital folds Urogenital membrane (MUG) Anal membrane (MA) SUG: Urogenital sinus

30 Penis Clitoris Penile and scrotal raphe Scrotum Labium minus and majus

31 BIOLOGY OF GENITAL DIFFERENTIATION

32 Mesoderme Testis TDF/SRY (chr Y) SOX9 (chr 17) (+GATA4, FOG2, ) DAX1 (chr X) Indifferent Gonad WT1, SF-1 (+ LHX9, LIM1, EMX2,NR5A1, PBX1, CBX2, ) (SF1, RSPO1, WNT4, catenin, FOXL2) Ovary SOX9 Leidig cells LH, SF1 Testosterone Wolff ducts differenciation ductus epididymis, ductus deferent seminal vesicles Sertoli cells SOX9 (+SF1, GATA4, SOX8) Müllerian Inhibiting Substance Androgen Binding (MIS) Protein (ABP) Muller duct s regression Spermatogenesis Muller ducts differenciation Uterine tubes Uterus Vagina Wolff ducts regression 5 reductase Dihydrotestosterone Prostate gland External genitalia (scrotum, penis)

33 TDF/SRY (chr Y) SOX9 (chr 17) Testis (+GATA4, FOG2, ) DAX1 (chr X) Mesoderme Indifferent Gonad WT1, SF-1 (+ LHX9, LIM1, EMX2,NR5A1, PBX1, CBX2, ) (SF1, RSPO1, WNT4, catenin, FOXL2) Ovary SOX9 Leidig cells LH, SF1 Testosterone Wolff ducts differenciation ductus epididymis, ductus deferent seminal vesicles Sertoli cells SOX9 (+SF1, GATA4, SOX8) Müllerian Inhibiting Substance Androgen Binding (MIS) Protein (ABP) Muller duct s regression Spermatogenesis Muller ducts differenciation Uterine tubes Uterus Vagina Wolff ducts regression 5 reductase Dihydrotestosterone Prostate gland External genitalia (scrotum, penis)

34 The Y chromosome testis determining factor (TDF)

35 The Y chromosome Interstital Y deletion including AZFa, AZFb or AZFc Non obstructive azoospermia or severe oligospermia Incidence > 1/4000 IPG

36 Mesoderme Testis TDF/SRY (chr Y) SOX9 (chr 17) (+GATA4, FOG2, ) DAX1 (chr X) Indifferent Gonad WT1, SF-1 (+ LHX9, LIM1, EMX2,NR5A1, PBX1, CBX2, ) (SF1, RSPO1, WNT4, catenin, FOXL2) Ovary SOX9 Leidig cells LH, SF1 Testosterone Wolff ducts differenciation epididymis vas deferens seminal vesicles Sertoli cells SOX9 (+SF1, GATA4, SOX8) Müllerian Inhibiting Substance Androgen Binding (MIS) Protein (ABP) Muller ducts regression Spermatogenesis Muller ducts differenciation Fallopian tubes Uterus Vagina Wolff ducts regression 5 reductase Dihydrotestosterone Prostate gland External genitalia (scrotum, penis) IPG

37 ABORMAL GENITAL DIFFERENTIATION IPG

38 DEFINITIONS: - GENETIC SEX: XX ou XY - GONADAL SEX: Ovaries or testes - PHENOTYPIC SEX: Male or female external genitalia

39 1. True hermaphrodism (ovotestis) 2. Gonadal dysgenesis (trouble of mesoderm differentiation) 3. Sex reversal and pseudohermaphrodism 3.1. Female XY (XY, Ovaries, Female external genitalia) 3.2. Male pseudohermaphrodism (XY, Testes, ambiguous or female external genitalia) 3.3. Male XX (XX, Testes, Male external genitalia) 3.4. Female pseudohermaphrodism (XX, Ovaries, ambiguous or male external genitalia)

40 1. TRUE HERMAPHRODISM (ovotestis) - Mosaïc 46,XX/46,XY (30%) - Mosaïc sry-/sry+ - other causes?

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42 ovotestis

43 2. GONADAL DYSGENESIS Infertility 1. CYTOGENETIC ABNORMALITIES OF SEX CHROMOSOMES - Turner syndrome (45,X) - Klinefelter syndrome (47,XXY) - Mosaïc 46,XY/45,X 2. GENES MUTATIONS - SF1 gene - WT1 gene

44 Turner syndrome >99% : spontaneous abortion Incidence at birth: 1/4000-1/5000

45 Turner Syndrome Delayed sexual maturation (R/ estrogene), amenorrhea, infertility Short stature (R/growth hormone) Pterygium colli, widely spaced nipples, cubitus valgus Cardiac malformation, hands and feet lymphedema Renal malformation No intellectual disability

46 Turner Syndrome

47 Turner Syndrome 45, X 45, X : 50% 46, X, i(xq): 15% 45,X/46,XX mosaic: 15% 45,X/46,X,i(Xq) mosaic: about 5% other X abnormalities (ringx, ): about 10%

48 Turner Syndrome (variant) 46, X, i(xq)

49 Turner Syndrome (variant) 46, X, r(x)

50 The X chromosome Random X chromosome inactivation early in female development by X inactivating center (XIST/XIC) in Xq13.2 (DNA méthylation, macroh2a histone modifications, ) Not Random if abnormal X chromosome (Skewed X-inactivation)

51 The X chromosome At least 15% of genes escape to X inactivation and are expressed from both active and inactive X chromosomes

52 Particular case: Small ring X chromosome Loss of the XIST locus No X inactivation Genes overexpression Intellectual disability

53 Rem: 47,XXX (trisomy X) - Incidence 1/1000 female births - Normal phenotype (above average stature) - No infertility - No intellectual disability but 70% learning problems - Abnormal behavior? Rem: 48,XXXX or 49, XXXXX - More severe phenotype, intellectual disability

54 Klinefelter syndrome 47, XXY Maternal or paternal meiosis non disjunction Incidence: 1/1000 male live births

55 Klinefelter syndrome Tall, long legs Narrow shoulders Gynecomastia (risk breast cancer X20 X50) Hypogonadism, small genitalia, decreased muscle tone (R/androgenes) Infertility by seminiferous tubes hyalinosis (R/ ICSI) No intellectual disability (but sometimes learning difficulties and poor psychosocial adjustment)

56 Klinefelter Syndrome (variants) 47, XXY : >80% Mosaic kayotype (46,XY/47,XXY): 15% 48,XXYY 48,XXXY 49,XXXXY More severe phenotype (defective sexual development, dysmorphism, intellectual disability)

57 Rem: 47,XYY condition - Incidence 1/1000 male births - Normal phenotype (tall stature) - No infertility - No intellectal disability (50% language delay) - Attention deficit? Hyperactivity? Impulsiveness?

58 Testis TDF/SRY (chr Y) SOX9 (chr 17) (+GATA4, FOG2, ) DAX1 (chr X) Mesoderme Indifferent Gonad WT1, SF-1 (+ LHX9, LIM1, EMX2,NR5A1, PBX1, CBX2, ) (SF1, RSPO1, WNT4, catenin, FOXL2) Ovary SOX9 Leidig cells LH, SF1 Testosterone Wolff ducts differenciation ductus epididymis, ductus deferent seminal vesicles Sertoli cells SOX9 (+SF1, GATA4, SOX8) Müllerian Inhibiting Substance Androgen Binding (MIS) Protein (ABP) Muller duct s regression Spermatogenesis Muller ducts differenciation Uterine tubes Uterus Vagina Wolff ducts regression 5 reductase Dihydrotestosterone Prostate gland External genitalia (scrotum, penis)

59 SF1 (NR5A1) gene mutations 46,XY and SF1 mutation: - gonadal dysgenesis - female or ambiguous external genitalia - inconstant uterus - adrenal insufficiency 46,XX and SF1 mutation : - Ovarian insufficiency (primary amenorrhea or premature ovarian failure) - female external genitalia, utérus - adrenal insufficiency

60 WT1 gene mutation 46,XY and WT1 mutation: - gonadal dysgenesis - female or ambiguous external genitalia - inconstant uterus - risk of Wilms tumor, nephropathy, aniridia (Denys-Drash, Frasier and WAGR syndromes) 46,XX and WT1 mutation : -risk of Wilms tumor, nephropathy

61 3. SEX REVERSAL AND AMBIGUOUS GENITALIA 46,XY XX or XY? 46,XX 46,XY

62 3.1. Female XY -46,XY - Ovaries (most often dysgenesic ovaries) - Female external genitalia (or ambiguous)

63 Mesoderme Testis TDF/SRY (chr Y) SOX9 (chr 17) (+GATA4, FOG2, ) DAX1 (chr X) Indifferent Gonad WT1, SF-1 (+ LHX9, LIM1, EMX2,NR5A1, PBX1, CBX2, ) (SF1, RSPO1, WNT4, catenin, FOXL2) Ovary SOX9 Leidig cells LH, SF1 Testosterone Wolff ducts differenciation ductus epididymis, ductus deferent seminal vesicles Sertoli cells SOX9 (+SF1, GATA4, SOX8) Müllerian Inhibiting Substance Androgen Binding (MIS) Protein (ABP) Muller duct s regression Spermatogenesis Muller ducts differenciation Uterine tubes Uterus Vagina Wolff ducts regression 5 reductase Dihydrotestosterone Prostate gland External genitalia (scrotum, penis)

64 3.1. Female XY -46,XY - Ovaries (most often dysgenesic ovaries) - Female external genitalia (or ambiguous) SRY Deletion or Mutation SOX9 Mutation DAX1 Duplication WNT4 Duplication

65 TDF/SRY (chr Y) SOX9 (chr 17) (+GATA4, FOG2, ) Testis DAX1 (chr X) Mesoderme Indifferent Gonad WT1, SF-1 (+ LHX9, LIM1, EMX2,NR5A1, PBX1, CBX2, ) (SF1, RSPO1, WNT4, catenin, FOXL2) Ovary SOX9 Leidig cells LH, SF1 Testosterone Wolff ducts differenciation ductus epididymis, ductus deferent seminal vesicles Sertoli cells SOX9 (+SF1, GATA4, SOX8) Müllerian Inhibiting Substance Androgen Binding (MIS) Protein (ABP) Muller duct s regression Spermatogenesis Muller ducts differenciation Uterine tubes Uterus Vagina Wolff ducts regression 5 reductase Dihydrotestosterone Prostate gland External genitalia (scrotum, penis)

66 46,XY and SRY deletion or mutation 46,XY Ovaries (dysgenetic) Female external phenotype (but amenorrhea and no secondary sexual characters)

67 SRY = TDF (testis-determining factor) If genetic recombination outside the pseudoautosomic region (incidence 1/20000): - XX male (with the SRY gene on a X chromosome) - XY female (without the SRY gene on the Y chromosome) IPG

68 Mesoderme Testis TDF/SRY (chr Y) SOX9 (chr 17) (+GATA4, FOG2, ) DAX1 (chr X) Indifferent Gonad WT1, SF-1 (+ LHX9, LIM1, EMX2,NR5A1, PBX1, CBX2, ) (SF1, RSPO1, WNT4, catenin, FOXL2) Ovary SOX9 Leidig cells LH, SF1 Testosterone Wolff ducts differenciation ductus epididymis, ductus deferent seminal vesicles Sertoli cells SOX9 (+SF1, GATA4, SOX8) Müllerian Inhibiting Substance Androgen Binding (MIS) Protein (ABP) Muller duct s regression Spermatogenesis Muller ducts differenciation Uterine tubes Uterus Vagina Wolff ducts regression 5 reductase Dihydrotestosterone Prostate gland External genitalia (scrotum, penis) IPG

69 46,XY and SOX9 mutation Female XY with campomelic dysplasia 46,XY Ovaries Female external phenotype Campomelic dysplasia

70 Mesoderme Testis TDF/SRY (chr Y) SOX9 (chr 17) (+GATA4, FOG2, ) DAX1 dup (chr X) Indifferent Gonad WT1, SF-1 (+ LHX9, LIM1, EMX2,NR5A1, PBX1, CBX2, ) (SF1, RSPO1, WNT4 dup, catenin, FOXL2) Ovary Leidig cells LH, SF1 Testosterone Wolff ducts differenciation ductus epididymis, ductus deferent seminal vesicles Sertoli cells SOX9 (+SF1, GATA4, SOX8) Müllerian Inhibiting Substance Androgen Binding (MIS) Protein (ABP) Muller duct s regression Spermatogenesis Muller ducts differenciation Uterine tubes Uterus Vagina Wolff ducts regression 5 reductase Dihydrotestosterone Prostate gland External genitalia (scrotum, penis)

71 3.2. Male Pseudohermaphrodism -46,XY - Testes - Female external genitalia (or ambiguous)

72 Mesoderme Testis TDF/SRY (chr Y) SOX9 (chr 17) (+GATA4, FOG2, ) DAX1 (chr X) Indifferent Gonad WT1, SF-1 (+ LHX9, LIM1, EMX2,NR5A1, PBX1, CBX2, ) (SF1, RSPO1, WNT4, catenin, FOXL2) Ovary SOX9 Leidig cells LH, SF1 Testosterone Wolff ducts differenciation ductus epididymis, ductus deferent seminal vesicles Sertoli cells SOX9 (+SF1, GATA4, SOX8) Müllerian Inhibiting Substance Androgen Binding (MIS) Protein (ABP) Muller duct s regression Spermatogenesis Muller ducts differenciation Uterine tubes Uterus Vagina Wolff ducts regression 5 reductase Dihydrotestosterone Prostate gland External genitalia (scrotum, penis)

73 3.2. Male Pseudohermaphroditism -46,XY - Testes - Female external genitalia (or ambiguous) Androgen insensitivity syndrome (Mutation of the androgen receptor) Testosterone deficiency (Mutation of the LH receptor, Smith Lemli Opitz syndrome, ) Di-OH-testosterone deficiency (Mutation of the 5- -reductase gene)

74 Mesoderme Testis TDF/SRY (chr Y) SOX9 (chr 17) (+GATA4, FOG2, ) DAX1 (chr X) Indifferent Gonad WT1, SF-1 (+ LHX9, LIM1, EMX2,NR5A1, PBX1, CBX2, ) (SF1, RSPO1, WNT4, catenin, FOXL2) Ovary SOX9 Leidig cells LH, SF1 Testosterone Wolff ducts differenciation ductus epididymis, vas deferens seminal vesicles Sertoli cells SOX9 (+SF1, GATA4, SOX8) Müllerian Inhibiting Substance Androgen Binding (MIS) Protein (ABP) Muller duct s regression Spermatogenesis Muller ducts differenciation Uterine tubes Uterus Vagina Wolff ducts regression 5 reductase Dihydrotestosterone Prostate gland External genitalia (scrotum, penis)

75 Androgen insensitivity syndrome 46,XY Testes Female external phenotype (blind vagina)

76 Testosterone deficiency (resistance to LH hormone) 46,XY Testes Female external phenotype (blind vagina)

77 Testosterone deficiency (Smith Lemli Opitz syndrome) 46,XY Testes Female external phenotype

78

79 Mesoderme Testis TDF/SRY (chr Y) SOX9 (chr 17) (+GATA4, FOG2, ) DAX1 (chr X) Indifferent Gonad WT1, SF-1 (+ LHX9, LIM1, EMX2,NR5A1, PBX1, CBX2, ) (SF1, RSPO1, WNT4, catenin, FOXL2) Ovary SOX9 Leidig cells LH, SF1 Testosterone Wolff ducts differenciation ductus epididymis, ductus deferent seminal vesicles Sertoli cells SOX9 (+SF1, GATA4, SOX8) Müllerian Inhibiting Substance Androgen Binding (MIS) Protein (ABP) Muller duct s regression Spermatogenesis Muller ducts differenciation Uterine tubes Uterus Vagina Wolff ducts regression 5 reductase Dihydrotestosterone Prostate gland External genitalia (scrotum, penis)

80 5 Reductase deficiency 46,XY Testes Presence of ductus epididymitis, vas deferens, seminal vesicles Female external phenotype (ambiguous) Possibility of spontaneous improvement at puberty

81 Rem: MIS deficiency> persistance of Mullerian residues 46,XY Testes Male external genitalia

82 Mesoderme Testis TDF/SRY (chr Y) SOX9 (chr 17) (+GATA4, FOG2, ) DAX1 (chr X) Indifferent Gonad WT1, SF-1 (+ LHX9, LIM1, EMX2,NR5A1, PBX1, CBX2, ) (SF1, RSPO1, WNT4, catenin, FOXL2) Ovary SOX9 Leidig cells LH, SF1 Testosterone Wolff ducts differenciation ductus epididymis, ductus deferent seminal vesicles Sertoli cells SOX9 (+SF1, GATA4, SOX8) Müllerian Inhibiting Substance Androgen Binding (MIS) Protein (ABP) Muller duct s regression Spermatogenesis Muller ducts differenciation Uterine tubes Uterus Vagina Wolff ducts regression 5 reductase Dihydrotestosterone Prostate gland External genitalia (scrotum, penis)

83 3.3. Male XX -46,XX - Testes - Male external genitalia (or ambiguous)

84 Mesoderme Testis TDF/SRY (chr Y) SOX9 (chr 17) (+GATA4, FOG2, ) DAX1 (chr X) Indifferent Gonad WT1, SF-1 (+ LHX9, LIM1, EMX2,NR5A1, PBX1, CBX2, ) (SF1, RSPO1, WNT4, catenin, FOXL2) Ovary SOX9 Leidig cells SF1 Testosterone Wolff ducts differenciation ductus epididymis, ductus deferent seminal vesicles Sertoli cells SOX9 (+SF1, GATA4, SOX8) Müllerian Inhibiting Substance Androgen Binding (MIS) Protein (ABP) Muller duct s regression Spermatogenesis Muller ducts differenciation Uterine tubes Uterus Vagina Wolff ducts regression 5 reductase Dihydrotestosterone Prostate gland External genitalia (scrotum, penis)

85 3.3. Male XX -46,XX - Testes - Male external genitalia (or ambiguous) SRY Translocation on the X chromosome SOX9 Duplication

86 SRY = TDF (testis-determining factor) If genetic recombination outside the pseudoautosomic region (incidence 1/20000): - XX male (with the SRY gene on a X chromosome) - XY female (without the SRY gene on the Y chromosome)

87 Testis TDF/SRY (chr Y) SOX9 duplication (+GATA4, FOG2, ) DAX1 (chr X) Mesoderme Indifferent Gonad WT1, SF-1 (+ LHX9, LIM1, EMX2,NR5A1, PBX1, CBX2, ) (SF1, RSPO1, WNT4, catenin, FOXL2) Ovary SOX9 Leidig cells SF1 Testosterone Wolff ducts differenciation ductus epididymis, ductus deferent seminal vesicles Sertoli cells SOX9 (+SF1, GATA4, SOX8) Müllerian Inhibiting Substance Androgen Binding (MIS) Protein (ABP) Muller duct s regression Spermatogenesis Muller ducts differenciation Uterine tubes Uterus Vagina Wolff ducts regression 5 reductase Dihydrotestosterone Prostate gland External genitalia (scrotum, penis)

88 3.4. Female Pseudohermaphrodism -46,XX - Ovaries - Male external genitalia (or ambiguous)

89 Mesoderme Testis TDF/SRY (chr Y) SOX9 (chr 17) (+GATA4, FOG2, ) DAX1 (chr X) Indifferent Gonad WT1, SF-1 (+ LHX9, LIM1, EMX2,NR5A1, PBX1, CBX2, ) (SF1, RSPO1, WNT4, catenin, FOXL2) Ovary SOX9 Leidig cells SF1 Testosterone Wolff ducts differenciation ductus epididymis, ductus deferent seminal vesicles Sertoli cells SOX9 (+SF1, GATA4, SOX8) Müllerian Inhibiting Substance Androgen Binding (MIS) Protein (ABP) Muller duct s regression Spermatogenesis Muller ducts differenciation Uterine tubes Uterus Vagina Wolff ducts regression 5 reductase Dihydrotestosterone Prostate gland External genitalia (scrotum, penis)

90 3.4. Female Pseudohermaphroditism -46,XX - Ovaries - Male external genitalia (or ambiguous) Early exposition to androgens Congenital adrenal hyperplasia Maternal adrenal tumor Placental tumor Exogenous maternal androgene treatment Aromatase deficiency (androgens > estrogens) Etc

91 Congenital adrenal hyperplasia (21-hydroxylase deficiency)

92 Congenital adrenal hyperplasia (21-hydroxylase deficiency) 46,XX Ovaries Male external phenotype (ambiguous)

93 Aromatase deficiency (androgenes Estrogenes) 46,XX Ovaries Male external phenotype (ambiguous)

94

95 True hermaphroditism Etiology Genotype Gonades External genitalia Other symptoms Mosaic XX/XY Or Mosaic sry-/sry+ or? 46,XX/46,XY (30%) or 46,XX (60%) or 46, XY (10%) Gonadal dysgenesis Turner 45,X Variants: 46,X,i(Xq) 46,X,rX Klinefelter mosaics 47,XXY Variants: 48,XXYY 48,XXXY 49,XXXXY mosaics Ovotestis Variable (female > ambiguous > male) Ovarian dysgenesis Female Short stature, webbed neck, cubitus valgus, cardiac malformation, infertility Testicular dysgenesis (seminiferous cords hyalinosis) Mosaic XY/X 46,XY/45,X Mixed gonadal dysgenesis SF1 Mutation 46,XY Gonadal dysgenesis rem: 46,XX Ovarian insufficiency Male Variable (female > ambiguous > male) Ambiguous > Female (+/- utérus) Female Tall stature, hypogonadism, gynecomastia, infertility With variants: intellectual disability +/- adrenal insufficiency +/- adrenal insufficiency WT1 Mutation 46,XY rem: 46,XX Gonadal dysgenesis Ovarian insufficiency? Ambiguous > Female (+/- utérus) Female Renal insufficiency and Wilms tumor (Denys-Drash) Glomerular néphropathy (Frasier) Wilms tumor, aniridia, mental retardation (WAGR) idem

96 Etiology Genotype Gonades External genitalia Other symptoms Female XY SRY mut or del 46,XY Ovaries (dysgenetic) Female SOX9 mutation 46,XY Ovaries (dysgenetic) Ambiguous > Female Skeletal dysplasia Male pseudohermaphrodism Male XX Female pseudohermaphrodism DAX1 duplication 46,XY Ovaries Ambiguous > Female 5α-réductase 46,XY Testes Ambiguous deficiency (improvement at (diohtestosterone puberty) deficiency) LH receptor mutation (testostérone deficiency) Androgen receptor mutation (androgen insensitivity syndrome) SRY translocation on the X chrom. 46,XY Testes Female (blind vagina) or ambiguous if partial deficiency 46,XY Testes Female (blind vagina) or ambiguous if partial insensitivity 46,XX Testes Male SOX9 Duplication 46,XX Testes Ambiguous > Male Early exposition 46,XX Ovaries Ambiguous to androgenes (congenital adrenal hyperplasia, maternal adrenal or placental tumor, exogenous androgene treatment, aromatase deficiency)

97 Etiology Genotype Gonades External genitalia Other symptoms Others Trisomy X 47,XXX Normal ovaries Normal female Normal phenotype (above average stature) No infertility No intellectual disability but 70% learning problems Abnormal behavior? Tetrasomy X 48,XXXX Normal ovaries Normal female Intellectual disability Pentasomy X 49,XXXXX Normal ovaries Normal female Intellectual disability XYY condition 47,XYY Normal testes Normal male Normal phenotype (tall stature) No infertility No intellectual disability but 50% speech delay Attention deficit? Hyperactivity? MIS deficiency 46,XY Normal testes BUT persistance of mullerian residues (uterus, upper vagina) Normal male No infertility No intellectual disability Interstital Y deletion including AZFa, AZFb or AZFc 46,XY Normal testes BUT non obstructive azoospermia (or severe oligospermia) Normal male Infertility

98

99 IPG

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