Anormal Seksüel Gelişim - İnterseks - www.jinekolojivegebelik.com

[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],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],[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],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],[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],Evaluation of Ambiguous Genitalia

[object Object],[object Object],[object Object],[object Object],[object Object],Gender Assignment Meyer-Bahlburg, 1998

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