We report on a patient with genetically confirmed adrenal hypoplasia congenita (AHC) whose presentation and laboratory abnormalities were consistent with the more common condition, congenital adrenal hyperplasia (CAH). The patient presented with failure to thrive and salt wasting. General appearance showed marked hyperpigmentation and normal male genitalia. He displayed mildly elevated 17-hydro...

Congenital adrenal hyperplasia (CAH) most commonly due to 21-hydroxylase deficiency is the most common type of disorder of sex development. This review will focus on CAH addressing historical and current surgical techniques with their anatomical foundations, with special attention to long-term results and outcomes on sexual function, patient satisfaction, patient attitude toward surgery, and on...

A simple, rapid, non-radioactive method for detecting homozygous deletions/conversions of the steroid 21-hydroxylase gene is described. In our experience this method will be useful for first trimester prenatal diagnosis of congenital adrenal hyperplasia in 17% of families of a child with the salt losing form. This test includes an internal control to monitor the success of amplification.

Congenital Adrenal Hyperplasia (CAH) is caused by congenital insufficiency of the enzyme 21 - hydroxylase (21-OHD) in the cortisol synthesis pathway. Because of the virilizing effects of androgens over-production, affected girls develop clitoral hypertrophy. Three patients with CAH are discussed below along with their surgical management and follow-up.

Congenital adrenal hyperplasia (CAH) is one of the most common metabolic diseases. It is caused by a severe or partial impairment of adrenal steroidogenesis affecting cortisol biosynthesis. Approximately 5–8% of all cases are due to steroid 11b-hydroxylase deficiency (11OHD; OMIM +202010), which occurs in approximately 1:100,000 to 1:200,000 live births in non consanguineous populations. Mutati...

BACKGROUND Congenital adrenal hyperplasia is a group of disorders caused by defects in the adrenal steroidogenic pathways. In its most common form, 21-hydroxylase deficiency, patients develop varying degrees of glucocorticoid and mineralocorticoid deficiency as well as androgen excess. Therapy is guided by monitoring clinical parameters as well as adrenal hormone and metabolite concentrations. ...