- Case Study 1
History
A 3.5-kg term infant born after uncomplicated pregnancy
Cryptorchidism and hypospadias noted, so infant discharged
home as a male with plan for outpatient surgical evaluation
Infant fed poorly at home, with intake of approximately
4 oz/day, no vomiting On day 5 of life, notification of abnormal newborn screen for congenital adrenal hyperplasia by health department; referred to emergency department - Evaluation
On presentation to emergency department: infant was
well-appearing, weight 2.9 kg (representing a loss of 0.6 kg)
Genital examination: 2.3 × 1.1 cm phallus, severe hypospadias, marked labial fusion, no palpable gonads, marked hyperpigmentation of genitalia
Electrolytes: sodium 140 mEq/L, potassium 5.8 mEq/L,
chloride 107 mEq/L, CO2 19 mEq/L, BUN 15 mg/dL, Cr
1.0 mg/dL Glucose 94 mg/dL
Ultrasound examination: uterus present, enlarged adrenals,
no gonads seen
Karyotype 46,XX
17-Hydroxyprogesterone 20,000 ng/dL (normal < less than
200—unstimulated)
Plasma renin activity 201 ng/mL/h (normal < less than 26)
Management and Outcome
Gender was reassigned female
Hydrocortisone (Cortef) and fludrocortisone acetate (Florinef) started along with NaCl supplements
On day 10 of life, weight 3.2 kg, feeding 4 oz/4 hours - By 4 months of age, significant reduction in clitoral and labial
enlargement as well as resolution of hyperpigmentation - By 3 years of age, the clitoral size had not normalized and
the mother became very concerned about the child showing
signs of gender “confusion,”and hence clitoral reduction
surgery was performed