background: congenital adrenal hyperplasia (cah, the inherited inability to synthesize cortisol) is one of the most common (1 in 10000 to 1 in 15000) autosomal recessive disorders. more than 95% of cases of cah are caused by 21-hydroxylase deficiency (21-ohd). females with severe, classic 21-ohd are exposed to excess androgens prenatally and are born with virilized external genitalia. most pati...

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 ...

Highlight: The diagnosis and therapy of Congenital Adrenal Hyperplasia (CAH) children with crisis (AC) case report. is a life-threatening emergency that contributes to the high death rate adrenal insufficiency. early detection prompt treatment can improve outcomes patients CAH AC. Abstract: acute complication patient congenital hyperplasia. hyperplasia rare condition. Children commonly come roo...

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...

1. Describe the pathophysiology of congenital adrenal hyperplasia (CAH). 2. Characterize the signs and symptoms of CAH. 3. Describe the appropriate laboratory evaluation of CAH. 4. Know that CAH can be diagnosed prenatally. 5. Recognize adrenal insufficiency by laboratory and clinical evaluation. 6. Anticipate and plan treatment for both acute adrenal crisis and long-term therapy for a patient ...

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...

Congenital adrenal hyperplasia (CAH) is a heterogeneous group of autosomal recessive disorders due to defects in steroid biosynthesis. In about 90% patients, CAH caused by pathogenetic variants CYP21A2 gene, impairing the function 21-hydroxylase (21-OH) enzyme. can present as classical form (simple virilizing or salt wasting) non-classical (NC-CAH). NC-CAH gene that result 20–70% residual activ...

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder characterized by enzyme defects in the steroidogenic pathways. Testicular adrenal rest tumors (TARTs) are may have serious consequences in patients with CAH. They probably develop from ectopic remnants of intratesticular adrenal tissue, which might be stimulated by the rise of adrenocorticotropic hormone (ACTH). Their histo...