Testes were approximately 4 x 3 x 2 cm with well-defined epididymides and identifiable vas deferens. Penis was found and was approximatelyRosas-Nava Jesús EmmanuelLira-Dale AlejandroCorona-Montes VíctorAlmanza-González MarioManzanilla-García Hugo A...
17 alpha-Hydroxylase deficiency with persistence of müllerian ducts in a genotypic male and paradoxical aldosterone secretion. 17 alpha-Hydroxylase deficiency with persistence of Mullerian ducts in a genotypic male and paradoxical aldosterone secretion. Postgrad Med J. 1993;69:159-... NS Panesar,VT ...
17-Alpha Hydroxylase Deficiency: A Rare Case of Primary Amenorrhea and Hypertension主要由Yasin Şimşek、Seher Polat、Felix G. Riepe编写,在2014年被Turkish Journal of Endocrinology and Metabolism收录,
The molecular mechanisms underlying the metabolic shift toward increased glycolysis observed in pulmonary artery smooth muscle cells (PASMC) during the pathogenesis of pulmonary arterial hypertension (PAH) are not fully understood. Here we show that the
CONTEXT: is a rare form of caused by gene mutations.: Five Chinese patients with were genotyped.: The five patients derived from four families living in Shandong Province, China. The diagnosis of was initially established through HPLC serum adrenal profiles in Qilu Hospital, China, from 1983-199...
Background: Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders caused by deficiency of any of the steroidogenic enzymes involved in adrenal steroid synthesis. The most common form of CAH is 21α-hydroxylase deficiency (21α-OHD), which accounts for approximately 95% ...
The murine homologue of the 25-hydroxyvitamin D [25(OH)D] 1alpha-hydroxylase gene [1alpha(OH)ase; Cyp27bl], which is mutated in humans with vitamin D-dependent rickets type I (VDDR-I; also known as pseudovitamin D-deficiency rickets [PDDR]) was cloned and characterized. Like the huma...
Mutations in the 25-hydroxyvitamin D-1alpha-hydroxylase gene (CYP27B1; 1alpha-OHase) cause pseudo vitamin D deficiency rickets (PDDR), while mutations in the vitamin D receptor (VDR) cause hereditary vitamin D resistance rickets. Animal models of both diseases have been engineered. The bone ...
Pitfalls of prenatal treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency Both newborns were virilized (Prader IV). Plasma levels of progesterone (P), 17-hydroxyprogesterone (17OHP), aldosterone (Aldo), cortisol, estriol and DEX were measured by specific RIAs in Pat...
Partial deficiency of 17α-hydroxylase/17,20-lyase caused by a novel missense mutation in the canonical cytochrome heme-interacting motif. Deficiency of 17α-hydroxylase/17,20-lyase is a rare cause of 46,XY disordered sex development. We characterize in vitro and in vivo effects of two novel ...