- 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
Dr. Jayaprakash
Superintendent, ICH.
Institute of Child Health.
Gov. Medical College Kottayam.
Kerala, India.