A four day old female infant was admitted because of poor feeding, vomiting and jaundice. Laboratory examination showed hyperkalemia, mild hyponatremia and renal tubular acidosis type 4. Serum aldosterone and plasma renin activity were elevated but serum cortisol, 17 -hydroxyprogesterone, ACTH, 24 hour urinary 17- ketoste roid, pregnanetriol, renal function and sonogram were normal and henc...

OBJECTIVE To describe the etiologies, clinical characteristics, and laboratory investigations of young Thai children being evaluated for precocious pubarche. MATERIAL AND METHOD The medical records of 41 children referred for evaluation of precocious presence of pubic hair at Songklanagarind Hospital between 1995 and 2011 were retrospectively reviewed. RESULTS The etiologies of precocious p...

Congenital adrenal hyperplasia (CAH) is a rare congenital disorder, which in cases of female genotype may result in virilization. Specific enzyme deficiencies in adrenocorticoid hormones biosynthetic pathway lead to excess androgen production causing virilization. Classic type presents early in infant life as salt losing or simple virilizing type, whereas non classic form presents late at puber...

to review the diffrent aspects of gender, subtype of cah, management and results in all our patients with ambiguous genitalia diagnosed as congenital adrenal hyperplasia during the past 30 years. methods: the files of all our patients with cah reviewed retrospectively. results: out of 256 patients who had ambiguous genitalia due to cah, 96% were female and 4% were male. 21-ohd was diagnosed in ...

Alternative Names Adrenal Hyperplasia III 21-@Hydroxylase Deficiency CYP21 Deficiency Congenital Adrenal Hyperplasia 1 CAH1 Cytochrome P450, Subfamily XXIA, Polypeptide 2 CYP21A2 Cytochrome P450, Subfamily XXI CYP21 Steroid Cytochrome P450 21-Hydroxylase P450c21 21-@Hydroxylase B, Included CYP21B CA21H Cytochrome P450, Subfamily XXIA, Polypeptide 1 Pseudogene CYP21A1P CYP21P CYP21A Hyperandroge...