BACKGROUND Lipoid congenital adrenal hyperplasia (CAH) (OMIM n. 201710) is the most severe form of congenital adrenal hyperplasia. It is characterized by severe adrenal and gonadal steroidogenesis impairment due to a defect in the conversion of cholesterol to pregnenolone. Affected infants experience salt loss, but glucocorticoid and mineralocorticoid replacement therapy enables long-term survi...

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...

BACKGROUND Lipoid congenital adrenal hyperplasia, is the rarest and usually the most severe form of adrenal steroidogenic defect,which may presents as infantile cholestasis. CASE PRESENTATION Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperp...

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...

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...

Cytochrome P450scc, the mitochondrial cholesterol side chain cleavage enzyme, is the only enzyme that catalyzes the conversion of cholesterol to pregnenolone and, thus, is required for the biosynthesis of all steroid hormones. Congenital lipoid adrenal hyperplasia is a severe disorder of steroidogenesis in which cholesterol accumulates within steroidogenic cells and the synthesis of all adrenal...

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...

BACKGROUND Primary bilateral macronodular adrenal hyperplasia is a rare cause of Cushing's syndrome characterized by the presence of bilateral secretory adrenal nodules. Recent studies have shown that primary bilateral macronodular adrenal hyperplasia is caused by combined germline and somatic mutations of the ARMC5 gene. Exophthalmos is an underappreciated sign of Cushing's syndrome. CASE PR...

Cushing’s syndrome is a challenging disease in which excess cortisol is secondary to diverse tumors with complex molecular mechanisms. The syndrome has been categorized as corticotropindependent or corticotropin-independent. Approximately 20% of cases — mainly cortisol-secreting unilateral adenomas or carcinomas — are considered corticotropin-independent. Cushing’s syndrome rarely (in <2% of ca...

congenital adrenal hyperplasia comprises a group of disorders resulting from defects in enzymes required for the synthesis of cortisol. the clinical presentation depends on the specific enzyme defect. we report a rare case of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. a 26-year-old female patient referred with hypertension and hypokalemia. she also had primary amenor...