Congenital Adrenal Hyperplasia

Abstract

A 15-day-old child was brought by her parents for repeated vomiting, excessive crying and jitteriness, and poor feeding. She was a product of non-consanguineous marriage and was delivered by induced labor at 33 weeks of gestation due to maternal complications (pregnancy-induced hypertension). Her birth weight was 1.9 kg and she was assigned female gender. She was investigated and found to have hyponatremia and hyperkalemia (Na⁺ 119 mEq/L, K⁺ 8.1 mEq/L) and was diagnosed to have hypoaldosteronism. She was initiated with fludrocortisone 50 μg/day. With this treatment, her symptoms subsided but she failed to thrive and progressively became darker; however, serum electrolyte abnormalities were resolved. She was taken to an endocrinologist at 5 months of age, and she was suspected to have congenital adrenal hyperplasia (CAH) and was investigated accordingly. Her unstimulated serum 17α-hydroxyprogesterone [17(OH)P] was 120 ng/ml and was diagnosed to have CAH due to 21α-hydroxylase deficiency, and dexamethasone was added to fludrocortisone. This therapy resulted in weight gain and decrease in pigmentation, and patient became more active. At 2 years of age, she was referred to our institute. Her height was 81 cm (10^th percentile, target height 158 cm), weight 12 kg (25^th percentile), and she had a Tanner staging of A_-, P₁, B₁. She did not have Cushing’s stigmata. Examination of the external genitalia showed posterior labial fusion, hyperpigmented labioscrotal folds, isolated clitoromegaly, and the gonads were not palpable. Two distinct openings were seen at perineum. The karyotype was 46,XX. Serum 17(OH)P was 26.8 ng/ml. Dexamethasone was replaced with hydrocortisone (7.5 mg/day) and fludrocortisone (100 μg/day) was continued. The annual follow-up of the patient with clinical and biochemical parameters is depicted in the table given below.