NORMAL PUBERTY IN X-LINKED CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA (CCAH)

Abstract

X-linkcd cytomegalic congenital adrenal hypoplasia (CCAH) is regularly associated with hypogonadotropic hypogonadism.3.2 To our knowledge, we are reporting for the first time a boy with well documented X-linked CCAH and normal pubertal development. The patient's brother had died at 5 6/12 years of age from undiagnosed adrenal insufficiency of recent onset due to histologically confirmed CCAH. Our patient developed primary adrenal insufficiency at 6 6/12 years of age, and has been doing well ever since on physiological replacement doses of hydrocortisone and fludrocortisone. At the time of diagnosis, there were negative or normal results for adrenal and other endocrine autoantibodies, very-long-chain fatty acids, serum and urinary glycerol, serum triglycerides, CK, and urinary organic acids. At 15 6/12 years of age, audiomctry was also documented to be normal.3 Spontaneous onset of puberty was evidenced by testicular enlargement and appearance of pubic hair in his 1 1th and 14th years of life, respectively, and by a corresponding growth spun. At 15 8/12 years of age, he had an adult sized phallus, testicular volume of 20 ml, and pubic hair stage IV (Tanner). Serum FSH (4.8/7.2 U/l) and LH (4.9/20 U/l) before and 30′ after LHRH (60 μg/m2 i.v.), a LH night profile (3 peaks up to 7.6 U/l), and serum testosterone (493 ng/dt) were within the normal range for adult males. Although molecular genetic studies have so far failed to identify a deletion on the short arm of the X chromosome in our patient, this unique case of normal puberty in CCAH supports the suggestion2,4 that a separate gene locus for hypogonadotropic hypogonadism is located distal to the glycerol kinase and CCAH genes.