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Anormal Seksüel Gelişim - İnterseks - www.jinekolojivegebelik.com

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The document discusses normal sexual differentiation and various disorders of sexual development including: 1. Normal sexual differentiation involves establishment of chromosomal sex, gonad development, and genital differentiation under hormonal influences. 2. Disorders include seminiferous tubule dysgenesis (Klinefelter), 46 XX males, Turner's syndrome, gonadal dysgenesis, congenital adrenal hyperplasia, and androgen insensitivity. 3. Evaluation of ambiguous genitalia involves examination for testes, imaging of internal structures, labs, and potential for gender assignment and psychosocial well-being.

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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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