Management of conditions associated with intersex, such as congenital adrenal hyperplasia, is controversial. A recent editorial in the BMJ called for long term studies of outcome. Females (genotype XX) with congenital adrenal hyperplasia are born with ambiguous genitalia, have feminising genitoplasty soon after birth, and often have repeated genital surgery and genital examinations in adolescen...

Adrenocortical tumour have been described in patients with 21-hydroxylase deficiency. These tumours are usually considered to be ACTH – dependent, as diffuse adrenal cortical hyperplasia is commonly seen. We report adrenal cortical tissue tumours developed in three patients with untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency. All of them had symptoms of adrenogenital ...

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...

Barnes, N. D., and Atherden, S. M. (1972). Archives of Disease in Childhood, 47, 62. Diagnosis of congenital adrenal hyperplasia by measurement of plasma 17-hydroxyprogesterone. Measurement of plasma 17-hydroxyprogesterone by a simple competitive protein-binding assay has proved of value in the diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Children with untreated...

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...

amenorrhea, an absence of menses is a symptom that generally brings teenagers for evaluation. this study was undertaken to determine the etiology of primary amenorrhea with especial concern to non classic congential adrenal hyperplasia (nc-cah)-due 21 hydroxylase deficiency among female adolescents refered to clinics of pediatric endocrinology of tehran and iran university of medical sciences a...

OBJECTIVES To describe the presence of prostatic tissue in 46,XX patients with the classical form of congenital adrenal hyperplasia (CAH); to evaluate the sensitivity and specificity of prostatic specific antigen (PSA) measured in congenital adrenal hyperplasia patients with regard to the detection of prostatic tissue in pelvic MRI. METHODS We studied 52 children and adolescents, 32 with the ...

Total height, sitting height, and subischial leg length were measured in 27 patients (19 girls and eight boys aged 4.3-21.1 years) with congenital adrenal hyperplasia to determine the influence of chronic hyperandrogenaemia on body proportions. Proportions were normal in 24 patients with classical congenital adrenal hyperplasia who had received steroid treatment since birth, but one of three pa...