Results 71 to 80 of about 2,389,640 (367)
Location of the gene for 21-hydroxylase deficiency. [PDF]
Journal of Medical Genetics, 1980 HLA typing of 33 families with one or more children suffering from congenital adrenal hyperplasia confirmed that the gene for 21-hydroxylase deficiency is closely associated with the HLA region. Analysis of two families in which recombination of chromosome 6 had occurred indicated that the gene locus is between the A and D loci of the HLA region.
M A Reynolds +4 more
openaire +3 more sources
Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 Oxidoreductase deficiency [PDF]
, 2010 Context: P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17α-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase.
Adachi +59 more
core +2 more sources
Congenital clitoromegaly in an adult
The Pan African Medical Journal, 2019 Clitoromegaly is an abnormal enlargement of the clitoris. In adult, dimensional criteria are, according to Brodie, a minimum length hood and width of 27.4mm and 8mm.
Mohammed Alae Touzani, Imad Ziouziou
doaj +1 more source
European Journal of Endocrinology, 2017 Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is characterized by cortisol and in some cases aldosterone deficiency associated with androgen excess. Goals of treatment are to replace deficient hormones and control androgen excess,
A. Bachelot +4 more
semanticscholar +1 more source
Haplotypes of the steroid 21-hydroxylase gene region encoding mild steroid 21-hydroxylase deficiency. [PDF]
Proceedings of the National Academy of Sciences, 1991 Haplotypes of the complement 4 (C4) and steroid 21-hydroxylase [21-OHase; steroid hydrogen-donor: oxygen oxidoreductase (21-hydroxylating), EC 1.14.99.10] repeated gene complex were studied in nine families with at least one member affected with a mild form of 21-OHase deficiency.
Jan Gustafsson +3 more
openaire +3 more sources
Are Steroid Hormones Dysregulated in Autistic Girls?
Diseases, 2020 Evidence of altered cholesterol and steroid hormones in autism is increasing. However, as boys are more often affected, evidence mainly relates to autistic males, whereas evidence for affected autistic girls is sparse.
Benedikt Andreas Gasser +3 more
doaj +1 more source
HLA Class I-, Complement C4- and 21-Hydroxylase Probes in the Genetic Analysis of 21-Hydroxylase Deficiency [PDF]
Clinical Chemistry and Laboratory Medicine, 1990 In order to develop an optimal strategy for the prenatal diagnosis of steroid 21-hydroxylase (EC 1.14.99.10) deficiency, we investigated 16 affected families with salt wasting syndrome. Genomic DNA derived from peripheral white blood cells was digested with 6 different restriction enzymes.
Kochhan, L. +4 more
openaire +3 more sources
Advanced Biology, EarlyView.The manuscript examines preclinical murine and human models to study polycystic ovary syndrome (PCOS), delving into the cellular and molecular mechanisms underlying altered ovarian follicular dynamics. It explores the cellular interactions involved in normal and PCOS ovaries and outlines the current and novel strategies in the search for preclinical ...
Arturo Bevilacqua +5 more
wiley +1 more source
Journal of Clinical Endocrinology and Metabolism, 2016 CONTEXT Treatment of 21-hydroxylase deficiency (21OHD) is difficult to optimize. Normalization of excessive ACTH and adrenal steroid production commonly requires supraphysiologic doses of glucocorticoids.
Adina F. Turcu +9 more
semanticscholar +1 more source
Advanced Functional Materials, EarlyView.Ultrathin, flexible neural probes are developed with an innovative, biomimetic design incorporating brain tissue‐compatible materials. The material system employs biomolecule‐based encapsulation agents to mitigate inflammatory responses, as demonstrated through comprehensive in vitro and in vivo studies.
Jeonghwa Jeong +7 more
wiley +1 more source