• Case Study 1
    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
    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

About Dr. Jayaprakash

Asst. Prof. of Pediatrics, ICH. Institute of Child Health. Gov. Medical College Kottayam. Kerala, India.

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