CONTEXT 11β-hydroxylase deficiency is the second most common form of congenital adrenal hyperplasia. Untreated, this enzyme deficiency leads to virilization, hypertension, and significant height impairment. PATIENT We describe a patient from abroad who first presented to us at age 7 years for follow-up of ambiguous genitalia. He had been investigated and treated in Pakistan at 3-years-of-age ...

In a genetic and clinical study in Wales of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, 26 cases were found in the period 1966 to 1977. No one was known to have died from the condition in the period. There were 14 female and 5 male salt-losers, and 5 female and 2 male nonsalt-losers. The discrepancy between the sexes suggests that some cases of congenital adrenal hyperplasi...

The aim of this paper is a straightforward presentation of the steroidogenesis process and the most common type of congenital adrenal hyperplasia (CAH) - 21-hydroxylase deficiency - as well as the analytical diagnostic methods that are used to recognize this disease. CAH is a family of common autosomal recessive disorders characterized by impaired adrenal cortisol biosynthesis with associated a...

An adrenal cortical cell rest, an interstitial cell, and a pleuripotent cell have all been suggested as the origin of testicular masses in congenital adrenogenital syndrome. 2 Embryologically the development of the adrenal gland and the genital ridge occurs in close proximity. Adrenal cell rests are therefore known to occur in the spermatic cord, testis, broad ligament, and the ovary. The norma...

An adrenal cortical cell rest, an interstitial cell, and a pleuripotent cell have all been suggested as the origin of testicular masses in congenital adrenogenital syndrome. 2 Embryologically the development of the adrenal gland and the genital ridge occurs in close proximity. Adrenal cell rests are therefore known to occur in the spermatic cord, testis, broad ligament, and the ovary. The norma...

An adrenal cortical cell rest, an interstitial cell, and a pleuripotent cell have all been suggested as the origin of testicular masses in congenital adrenogenital syndrome. 2 Embryologically the development of the adrenal gland and the genital ridge occurs in close proximity. Adrenal cell rests are therefore known to occur in the spermatic cord, testis, broad ligament, and the ovary. The norma...

In a 61-year-old Caucasian male with prostate cancer, leuprolide and bicalutamide failed to suppress the androgens. He presented to endocrinology with persistently normal testosterone and incidental massive (up to 18 cm) bilateral adrenal myelolipomas on CT scan. Blood test did not reveal metanephrine excess. The patient was noted to have short stature (151 cm) and primary infertility. Elementa...

Congenital adrenal hyperplasia is one of the most frequently inherited diseases. It is characterized by a severe decline in cortisol secretion, which results in a compensatory increase in ACTH and consequent adrenal growth (hyperplasia). Here we describe the first case of 11beta-hydroxylase deficiency that is caused by an unequal cross-over of the genes encoding aldosterone synthase (CYP11B2) a...