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DISORDERED SEXUAL DIFFERENTIATION.  Ambiguous genitalia  New term: complex genital anomaly TERMINOLOGY.

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Presentation on theme: "DISORDERED SEXUAL DIFFERENTIATION.  Ambiguous genitalia  New term: complex genital anomaly TERMINOLOGY."— Presentation transcript:

1 DISORDERED SEXUAL DIFFERENTIATION

2  Ambiguous genitalia  New term: complex genital anomaly TERMINOLOGY

3  Sex determination  Sex differentiation EMBRYOGENESIS

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

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7  History  Clinical  Special investigations APPROACH

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

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

10  Orifices  Labioscrotal folds  Gonads EXAMINATION

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

12  Electrolytes  Ultrasound  Laparoscopy INVESTIGATIONS CONTINUE

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

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

15  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 APPROACHES TO GENDER ASSIGNMENT

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

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

18  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 OVERVIRILIZATION OF FEMALE FETUS

19 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 Congenital adrenal hyperplasia

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

21  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 TRUE HERMAPHRODITE

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

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


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