© Springer India 2016 335
A. Bhansali et al., Clinical Rounds in Endocrinology,
DOI 10.1007/978-81-322-2815-8_10
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Congenital Adrenal Hyperplasia
10.1 Case Vignette
A 15-day-old child was brought by her parents for repeated vomiting, excessive cry-
ing and jitteriness, and poor feeding. She was a product of non-consanguineous mar-
riage 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 hyponatre-
mia and hyperkalemia (Na + 119 mEq/L, K + 8.1 mEq/L) and was diagnosed to have
hypoaldosteronism. She was initiated with fl udrocortisone 50 μg/day. With this treat-
ment, 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
17 α-hydroxyprogesterone [17(OH)P] was 120 ng/ml and was diagnosed to have
CAH due to 21α-hydroxylase defi ciency, and dexamethasone was added to fl udro-
cortisone. 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 percen-
tile), and she had a Tanner staging of A - , P 1 , B 1. 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