Congenital lipoid adrenal hyperplasia caused by a frame-shift mutation in the steroidogenic acute regulatory protein gene.

We present a female patient who, at the age of 35 days, presented with adrenal insufficiency with salt loss. Clinical and endocrinological investigation (low to normal levels of all adrenal steroids and raised ACTH) and imaging studies suggested congenital lipoid adrenal hyperplasia. The diagnosis was confirmed by molecular analysis that showed a frame-shift mutation 947/InsA/948 in exon 7 of the steroidogenic acute regulatory protein (StAR) gene.

Ovarian insufficiency in congenital lipoid adrenal hyperplasia begins in infancy.

The aim of the present study was to investigate ovarian function in a 46,XX female patient with congenital lipoid adrenal hyperplasia (lipoid CAH) during infancy and childhood. We measured serum gonadotropin and estradiol levels regularly from 6 months to 10.9 years of age.

Testicular descent related to growth hormone treatment.

An 8.7 year-old boy with cryptorchidism and growth hormone (GH) deficiency due to septooptic dysplasia presented testicular descent related to the commencement of hGH treatment. This case suggests a role for GH in testicular descent.