Congenital adrenal hyperplasia (CAH) resulting from 17α-hydroxylase/17,20-lyase deficiency is a rare autosomal recessive disease and the second most common form of CAH in Brazil. We describe the case of a Brazilian patient with CYP17 deficiency (17α-hydroxylase/17,20-lyase deficiency) caused by a homozygous p.R96W mutation on exon 1 of the CYP17 gene, an unusual genotype in Brazilian patients w...

We report a case of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency in a Chinese genotypic male patient. Despite the male genotype, normal female external genitalia were present and with the introduction of cyclical oestrogen therapy withdrawal bleeding occurred, confirming the presence of functional endometrial tissue. We believe this to be the first report of persistent ...

Congenital adrenal hyperplasia (CAH) can affect sex characteristics. The most common cause of CAH is 21-hydroxylase deficiency, and the cornerstone of treatment is glucocorticoid replacement in adrenocorticotropic hormone-suppressive dosages. A 64-year-old patient (46XX) with CAH resulting from 21-hydroxylase deficiency had been treated with dexamethasone and testosterone since diagnosis at age...

The term congenital adrenal hyperplasia (CAH) covers a group of autosomal recessive disorders caused by defects in one of the steroidogenic enzymes involved in the synthesis of cortisol or aldosterone from cholesterol in the adrenal glands. Approximately 95% of all CAH cases are caused by 21-hydroxylase deficiency encoded by the CYP21A2 gene. The disorder is categorized into classical forms, in...

We describe a liquid-chromatographic procedure for simultaneously determining eight steroids in serum. We used a Zorbax ODS column and a mobile phase of methanol/isopropanol/water (44/10/46, by vol), which well resolves the steroids cortisone, cortisol, corticosterone, 11-deoxycortisol, 11-deoxycorticosterone, androstenedione, 17-hydroxyprogesterone, and progesterone, but not 11-deoxycorticoste...

CONTEXT Isolated 17,20 lyase deficiency is commonly defined by apparently normal 17α-hydroxylase activity but severely reduced 17,20 lyase activity of the bifunctional enzyme cytochrome P450 (CYP) enzyme 17A1 (CYP17A1), resulting in sex steroid deficiency but normal glucocorticoid and mineralocorticoid reserve. Cytochrome b5 (CYB5A) is thought to selectively enhance 17,20 lyase activity by faci...

ehlers-danlos syndrome (eds vi)(omim 225400) is an autosomal recessive disease of the connective tissue. it is characterized by severe hypotonia at birth, progressive kyphoscoliosis, skin hyperelasticity, joint hypermobility, microcornea, rupture of arteries and eye globe, and osteopenia. collagen lysyl hydroxylase is deficient in these patients. deficiency of the activity of lysyl hydroxylase,...