Case history
Case history #1
A 3.2 kg baby is born by vaginal delivery to a 29-year-old gravida 2, para 1 mother after an unremarkable pregnancy, labour, and delivery. An ultrasound at 18 weeks was 'normal', although the genitalia were not visualised. Immediately after delivery the baby's genitalia are noted to be ambiguous and the baby is transferred to a tertiary care neonatal intensive unit (NICU) at a paediatric academic medical centre. On examination of the genitals, the baby has unfused labioscrotal folds that are weakly rugated. The right labioscrotal fold is larger than the left, with a right gonad palpable. There is a perineal urethral meatus, and the stretched phallus length is 3.2 cm. The baby is not dysmorphic and the remainder of the examination is unremarkable.[Figure caption and citation for the preceding image starts]: Infant presenting with ambiguous genitalia; the history and appearance are most likely consistent with mixed gonadal dysgenesisFrom the personal collection of Dr Ingrid Holm [Citation ends].
Case history #2
A full-term baby is born with a weight of 3.7 kg to a 28-year-old gravida 3, para 2 mother. Delivery is precipitous with an umbilical cord around the neck, although the baby appears well with normal vital signs. The baby is noted to have atypical genitalia and is transferred to the NICU. The family history is notable for a maternal female cousin born 'looking like a boy'. On examination of the genitalia, the phallus is 3.5 cm in length with a midshaft diameter of 1.2 cm. There is a small patent urogenital opening at the base of the phallus, the labioscrotal folds are hyperpigmented and rugated, and no gonads are palpable. The rest of the physical examination is unremarkable.[Figure caption and citation for the preceding image starts]: Infant presenting with ambiguous genitalia; history and appearance are most likely consistent with congenital adrenal hyperplasia, due to 21 hydroxylase deficiencyFrom the personal collection of Dr Ingrid Holm [Citation ends].
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