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DISORDERED SEXUAL DIFFERENTIATION

DISORDERED SEXUAL DIFFERENTIATION. TERMINOLOGY. Ambiguous genitalia New term: complex genital anomaly. EMBRYOGENESIS. Sex determination Sex differentiation.

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DISORDERED SEXUAL DIFFERENTIATION

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  1. DISORDERED SEXUAL DIFFERENTIATION

  2. TERMINOLOGY Ambiguous genitalia New term: complex genital anomaly

  3. EMBRYOGENESIS Sex determination Sex differentiation

  4. Murran K, Segal D (2009) Disorderd sexual differentiation (Ambiguous genitalia: an appraoch to diagnosis and management. South African Paediatric Review Volume 6 no 3: 20-30

  5. Murran K, Segal D (2009) Disorderd sexual differentiation (Ambiguous genitalia: an appraoch to diagnosis and management. South African Paediatric Review Volume 6 no 3: 20-30

  6. Murran K, Segal D (2009) Disorderd sexual differentiation (Ambiguous genitalia: an appraoch to diagnosis and management. South African Paediatric Review Volume 6 no 3: 20-30

  7. APPROACH History Clinical Special investigations

  8. HISTORY Detailed family history Prenatal exposure to exogenous or endogenous androgens, estrogens or potential endocrine disruptors Maternal virilization during pregnancy

  9. EXAMINATION General examination – dysmorphisms Examination of external genitalia Phallus

  10. EXAMINATION Orifices Labioscrotal folds Gonads

  11. INVESTIGATIONS Genetics – 46XX, 46XY, 46 XY/X0 Hormones (see cholesterol pathway) - 17 OH progesterone - DHEA - Androstendione - Testosterone level

  12. INVESTIGATIONS CONTINUE Electrolytes Ultrasound Laparoscopy

  13. MANAGEMENT Team approach - Family doctor - Paediatric endocrinologist - Surgeon - Geneticist - Social worker - Psychologist Involve child and parents

  14. GENDER ASSIGNMENT Based on - specific pathophysiology - prognosis for spontaneous pubertal development - potential for sexual activity - potential for fertility - endocrine function - parental wishes Psychosexual development

  15. APPROACHES TO GENDER ASSIGNMENT Medical emergency - do test stat and inform the parents what the diagnosis is - pros and cons Decide gender later and let child decide - Decide gender later and child involved in decision - Pros and cons

  16. SURGERY Surgical treatment of complex genital anomalies is controversial Specific surgical procedures at specific stages dependent on gender assignment

  17. CLASSIFICATION OF DISORDERS OF SEXUAL DIFFERENTIATION 1. Overvirilization of female fetus (46 XX DSD) 2. Undervirilization of male fetus (46 XY DSD) 3. True hermaphrodite (or ovotesticular DSD) 4. Gonadaldysgenesis

  18. OVERVIRILIZATION OF FEMALE FETUS Congenital adrenal hyperplasia – not difficult to diagnose Autosomal recessive Leads to deficiency in enzyme function in the cortisol and aldosterone pathways Most common 21 hydroxylase (21OH) deficiency

  19. Congenital adrenal hyperplasia Girl: - present with ambiguous genitalia - low Na , High K - eventually becomes dehydrated Boy - presents with dehydration and hyperkalaemia - normal genitalia therefore no clue to diagnosis

  20. UNDERVIRILIZATION OF MALE FETUS 46 XY Defect in testosterone production Defect in testosterone metabolism Defect in testosterone action

  21. TRUE HERMAPHRODITE Ovotesticular Disorder of sexual diffirentiation Common in central and southern Africa. Both ovarian and testicular tissue present. Diagnosis confirmed on biopsy of gonads Outcome regarding fertility has been disappointing

  22. GONADAL DYSGENESIS Spectrum of disorders that lead to the maldevelopment of the gonads and subsequently varying degrees of Disorders of Sexual differentiation

  23. REFERENCES Raine J, Donaldson MDC, Gregory JW, Savage MO, Hintz RL (2006) Practical Endocrinology and Diabetes in Children 109-128 Murran K, Segal D (2009) Disorderd sexual differentiation (Ambiguous genitalia: an appraoch to diagnosis and management. South African Paediatric Review Volume 6 no 3: 20-30 Wiersma R True hermaphroditism in southern Africa: the clinical picture PediatrSurgInt (2004) 20: 363-368 Sperling (2008) Ambiguous genitalia. Paediatric Endocrinology 3rd Edition:127-164

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