Hypertension in children with ambiguous genitalia: six cases

Congenital adrenal hyperplasia is relatively an uncommon condition, and it is considered a rare event to be associated with hypertension on presentation. In this report we describe six patients with growth acceleration and hypertension occurring in early childhood; three patients had hypertensive encephalopathy. The eldest patient in this report is an 18-year old with a genetic female karyotype reared as male. The second and the third patients had skeletal abnormality (short fourth metatarsal), which is a rare combination. The 4th and 5th patients are siblings, a boy and a girl; both of whom had several months of muscle weakness and hypokalemia. The girl had concentric left ventricular hypertrophy and underwent vaginoplasty and clitoral rescission. The sixth patient is an infant with history of neonatal septicemia and convulsions. In all the cases, growth acceleration and features of pseudoprecocious puberty were overlooked. Two patients out of six were reared incorrectly as males.