Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders due to
pathogenic variants in genes encoding enzymes and cofactors involved in adrenal …

Hypertension is an important risk factor in many conditions and creates a heavy burden of
disease and mortality globally. Polygenic hypertension is the most common form; however, it …

Abstract Context 17α-Hydroxylase/17, 20-lyase deficiency (17OHD) caused by mutations in
the CYP17A1 gene is a rare form of congenital adrenal hyperplasia typically characterised …

Abstract Purpose 17α Hydroxylase/17, 20 lyase deficiency (17OHD) is a rare form of
congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms of …

Aim 17α-hydroxylase enzyme deficiency is a rare form of congenital adrenal hyperplasia
(CAH) and is caused by mutations in the CYP17A1 gene. The main clinical findings are …

Abstract Context: Steroid 17α-hydroxylase/17, 20-lyase deficiency (17OHD) is characterized
by decreased sex steroids and cortisol, and excessive mineralocorticoid action. The clinical …

Polycystic ovary syndrome (PCOS) is a multifactorial endocrinopathy of indistinguishable
etiopathogenesis that is liable to entail genetic and environmental machinery synergistically …

We report a young adult woman with 17 alpha‐hydroxylase deficiency (17α‐OHD) in
Shandong province of China. The patient carried compound heterozygous mutations in the …

Congenital adrenal hyperplasia (CAH) is a group of monogenic, autosomal recessive
disorders which are usually diagnosed in childhood. CAH is clinically manifested by …

Aim: Lack of CYP17A1 prevents sex steroid biosynthesis, yielding a female phenotype in 46,
XY males and sexual infantilism in both sexes; overproduction of 11-deoxycorticosterone …