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 ...

Congenital adrenal hyperplasia (CAH) refers to autosomal recessive diseases resulting from deficiency of enzymes involved in the production of cortisol by the adrenal glands. This study was designed to determine the frequency of suspected congenital adrenal hyperplasia patients by evaluating the laboratory data of blood 17-OHP. The study was conducted at Chemical Pathology Section of Department...

Congenital adrenal hyperplasia is generally associated with oligo-amenorrhea, and its presentation with polymenorrhagia is rare. Here we present a case of an Asian female who presented with polymenorrhagia since menarche, increased body hair growth and enlargement of clitoris for 7-8 years. Examination revealed a normal Body Mass Index, moderate hirsutism, Tanner 5 breasts and significant clito...

congenital adrenal hyperplasia (cah) is a group of hereditary diseases, which are autosomal recessive. cah occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. in this article, we report a case of cah and schmid metaphyseal dysplasia. our literature review indicated that this report is the first attempt on cyp11b1 a...

UNLABELLED INTRODUCTION We report the case of a patient with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency who presented with unusual anatomical and biochemical features, namely massively enlarged adrenal glands, adrenogenital rest tissue and an unexpected endocrine profile. The contribution of the adrenocortical cells in the adrenals and testicles was determined ...

in this study, 285 cases of congenital adrenal hyperplasia who were followed in the tehran university hospitals and institute of endocrinology and metabolism arc reported. among these cases, 165 (57.9%) were female and 120 (42.1%), male. the most common type of congenital adrenal hyperplasia in these patients was the salt-losing type of 21-hydroxylase deficiency (57.9%); 11-hydroxylase deficien...

Testicular adrenal rest tumors (TART) are consequences of delayed diagnosis and/or undertreatment in patients with congenital adrenal hyperplasia (CAH). We describe a case of CAH with TART who presented with bilateral macroorchidism. He was managed with glucocorticoids which led to decrease in testicular size without restoration of spermatogenesis.

In adult patients with congenital adrenal hyperplasia (CAH), the presence of testicular adrenal rest tumours (TART) is an important complication leading to gonadal dysfunction and infertility. These tumours can be already found in childhood and puberty. In this paper, we review the embryological, histological, biochemical, and clinical features of TART and discuss treatment options.

Chronic glucocorticoid therapy is associated with reduced bone mineral density. In paediatric patients with congenital adrenal hyperplasia, increased levels of androgens could not only counteract this effect, but could also advance bone age, with interference in the evaluation of densitometry. We evaluate bone mineral density in paediatric patients with classic congenital adrenal hyperplasia ta...