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Ambiguous genitalia
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New term: complex genital anomaly

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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

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

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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History
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Clinical
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Special investigations

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

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General examination – dysmorphisms
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Examination of external genitalia
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Phallus

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Orifices
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Labioscrotal folds
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Gonads

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

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Electrolytes
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Ultrasound
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Laparoscopy

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

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Based on
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specific pathophysiology prognosis for spontaneous pubertal development potential for sexual activity potential for fertility endocrine function parental wishes
 Psychosexual development

APPROACHES TO GENDER ASSIGNMENT
 Medical emergency
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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

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

 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

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

• 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

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46 XY
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Defect in testosterone production
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Defect in testosterone metabolism
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Defect in testosterone action

 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

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

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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 Pediatr Surg Int (2004) 20: 363-368
Sperling (2008) Ambiguous genitalia. Paediatric
Endocrinology 3 rd Edition:127-164