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[object Object],[object Object],Ambiguous Genitalia
[object Object],[object Object],[object Object],[object Object],Introduction Jost, 1973
[object Object],[object Object],[object Object],[object Object],Introduction
Normal Sexual Differentiation Genital  Ridge Bipotential  Gonad SF-1 SF-1 Ovary Follicular Cells Theca Cells Follicles Mullerian  Duct Female  Genitalia Leydig Cells Sertoli Cells SF-1 SF-1 Testosterone AMH Testis Mullerian Duct  Regression Wolffian  Duct Genital Tubercle Urogenital Sinus Male Internal  Genitalia Penis Prostate DHT
[object Object],[object Object],[object Object],[object Object],Gonadal Differentiation
 
[object Object],[object Object],[object Object],[object Object],Testicular Differentiation Basement  Membrane Fibroblasts Spermatogonia ↓ ↑ ↑
[object Object],[object Object],[object Object],[object Object],Ovarian Differentiation
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Gonadal Function - Testis
[object Object],[object Object],[object Object],Gonadal Function - Testis
[object Object],[object Object],Gonadal Function - Ovary
 
[object Object],[object Object],[object Object],[object Object],[object Object],Phenotypic Differentiation
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Phenotypic Differentiation
 
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Phenotypic Differentiation
[object Object],[object Object],[object Object],[object Object],[object Object],Phenotypic Differentiation
 
[object Object],[object Object],[object Object],[object Object],[object Object],Abnormal Sexual Development - “Intersex”
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Disorders of Gonadal Differentiation May be oligospermic  and fertile (ICSI)
[object Object],[object Object],[object Object],[object Object],[object Object],Disorders of Gonadal Differentiation
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Disorders of Gonadal Differentiation Features: 1. Female Phenotype 2. Short Stature 3. No Secondary Sexual  Characteristics 4. Somatic Abnormalities - Webbed Neck - Broad Chest - Short Ring finger Occult Y Ch. Material: Predisposed to Virilisation  and Gonadoblastoma (30%) and other GCT (50%). Renal Anomalies: 90% Multiple Renal Arteries 20% Renal agenesis/Duplication 15% Malrotation 10% Horseshoe kidney
[object Object],[object Object],[object Object],Disorders of Gonadal Differentiation
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Disorders of Gonadal Differentiation Features: Unilateral testis (undescended) Contralateral Streak Gonad Persistent Mullerian Structures Some masculinisation Mostly females with; Enlarged phallus Labioscrotal folds Uterus /vagina & tubes Increased risk of: Gonadoblastoma (20%) - testis > streak gonad Wilm’s tumour Denys-Drash Syndrome - Nephropathy /CRF - Genital Abnormalities - Wilms tumour - XX/XY mosaicism May need prophylactic bilateral nephrectomy
[object Object],[object Object],[object Object],[object Object],[object Object],Disorders of Gonadal Differentiation
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Disorders of Gonadal Differentiation
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Disorders of Gonadal Differentiation
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Disorders of Gonadal Differentiation
[object Object],[object Object],[object Object],Female Pseudohermaphroditism
[object Object],[object Object],[object Object],[object Object],Congenital Adrenal Hyperplasia
 
[object Object],[object Object],[object Object],[object Object],21 Hydroxylase Deficiency
[object Object],[object Object],[object Object],[object Object],[object Object],21 Hydroxylase Deficiency
 
[object Object],[object Object],[object Object],[object Object],21 Hydroxylase Deficiency
[object Object],[object Object],[object Object],[object Object],[object Object],21 Hydroxylase Deficiency :  Oral steroid to mother suppresses ACTH preventing virilisation : Must be given at week 5, prior to CVS / amniocentesis : 7/8 are treated unecessarily : Effectiveness measured by plasma 17 OH progesterone levels
[object Object],[object Object],Congenital Adrenal Hyperplasia Hypertension ↑   Plasma 11  Deoxycortisol
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],21 Hydroxylase Deficiency
[object Object],[object Object],[object Object],[object Object],[object Object],Congenital Adrenal Hyperplasia Hypertensive ↑  11 Deoxycortisol
[object Object],[object Object],[object Object],[object Object],[object Object],Male Pseudohermaphroditism
[object Object],[object Object],[object Object],[object Object],[object Object],Leydig Cell Aplasia /  LH receptor abnormality
[object Object],[object Object],[object Object],Testosterone Biosynthesis Cholesterol side change cleavage 3 β  OH steroid Dehydrogenase 17 α  Hydroxylase 17,20 Lyase Deficiency 17 β  OH steroid Oxioreductase Dehydrogenase
[object Object],[object Object],[object Object],[object Object],[object Object],Androgen Receptor Defects
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Complete Androgen Sensitivity
[object Object],[object Object],[object Object],Partial Androgen Sensitivity (Reifenstein’s Syndrome)
[object Object],[object Object],[object Object],[object Object],[object Object],Evaluation of Ambiguous Genitalia
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Evaluation of Ambiguous Genitalia
[object Object],[object Object],[object Object],[object Object],[object Object],Evaluation of Ambiguous Genitalia
[object Object],[object Object],[object Object],Evaluation of Ambiguous Genitalia
[object Object],[object Object],[object Object],[object Object],[object Object],Gender Assignment Meyer-Bahlburg, 1998

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