Results 171 to 180 of about 34,531 (209)
Some of the next articles are maybe not open access.
Hyperandrogenism and Manifesting Heterozygotes for 21-Hydroxylase Deficiency
Biochemical and Molecular Medicine, 1997Premature adrenarche and functional adolescent androgen excess are common disorders which may evolve into polycystic ovary syndrome (PCOS). In all three disorders, ACTH-stimulated 17-hydroxyprogesterone concentrations are often somewhat elevated. To determine the role of 21-hydroxylase (CYP21) gene mutations in these disorders, we performed molecular ...
Makiko Suda-Hartman +3 more
openaire +3 more sources
Immunological pattern in patients with 21-hydroxylase deficiency
Journal of Endocrinological Investigation, 1994The aim of this work was to perform an immunological study in six patients with 21 hydroxylase deficiency in mild form (M210HD) and in 2 patients with 21-hydroxylase deficiency in classical form (C210HD) and in their parents, in whom a previous HLA,C4,Bf typing demonstrated high prevalence of DR5 and phenotypic absence of fraction C4B of complement ...
E. Cosentini +8 more
openaire +3 more sources
Salt Wasting 21-Hydroxylase Deficiency
2021Congenital adrenal hyperplasia (CAH) is a group of inherited disorders of cortisol biosynthesis in the adrenal cortex. 21-Hydroxylase deficiency (21-OHD) is the most common form of CAH. 21-OHD is further divided into classical and non-classical forms (NCAH). Most classical CAH patients have the salt wasting type of CAH (SW-CAH).
Judit Tőke, Dóra Török
openaire +2 more sources
21-Hydroxylase Deficiency: Screening and Incidence in Israel
Hormone Research, 1997Neonatal screening for congenital adrenal hyperplasia was introduced in 1977. However, even today only a few national screening programs exist and their cost effectiveness is still debatable. This study was conducted in order to evaluate the advisability of a national or regional screening program in Israel.From June 1987 until December 1992 we ...
Mordechai Schreiber +3 more
openaire +3 more sources
Simple Virilizing 21-Hydroxylase Deficiency
2021Congenital adrenal hyperplasia (CAH) is a group of inherited disorders of cortisol biosynthesis in the adrenal cortex. 21-Hydroxylase deficiency (21-OHD) is the most common form of CAH. 21-OHD is further divided into classical and non-classical forms. Nearly 25% of classical CAH patients have the simple virilizing type of CAH (SV-CAH).
Dóra Török, Judit Tőke
openaire +2 more sources
ADRENAL STEROIDOGENESIS IN HETEROZYGOTES FOR 21‐HYDROXYLASE DEFICIENCY
Clinical Endocrinology, 1979SUMMARYAdrenal steroidogenesis has been studied in vivo in eight obligate heterozygotes (six men and two women) for 21‐hydroxylase deficiency and the results compared with twenty‐one normal subjects. Serum levels of nine steroids on the biosynthetic pathway (the Δ53β‐hydroxysteroids, pregnenolone (Pe), 17α‐hyd‐roxypregnenolone (17Pe ...
D. C. Anderson +2 more
openaire +3 more sources
Genetics of Steroid 21-Hydroxylase Deficiency
1987Publisher Summary Congenital adrenal hyperplasia because of steroid 21-hydroxylase (21-OHase) deficiency is one of the most common inborn errors of metabolism. The 21-OHase locus is closely linked to the HLA major histocompatibility complex, and 21-OHase deficiency alleles show characteristic associations with particular HLA antigens and with alleles
openaire +3 more sources
Prenatal diagnosis and treatment of 21-hydroxylase deficiency
The Journal of Steroid Biochemistry and Molecular Biology, 1993Prenatal diagnosis of 21-hydroxylase deficiency, the most common cause of congenital adrenal hyperplasia (CAH), has benefited from the advances in endocrinologic and molecular genetic studies. In 1976, prenatal diagnosis of the disease was first attempted by measuring 17-hydroxyprogesterone in the amniotic fluid in the second trimester of pregnancy ...
Michel David +2 more
openaire +3 more sources
DETECTION OF HETEROZYGOTE OF 21-HYDROXYLASE DEFICIENCY
The Lancet, 1980L S Levine +5 more
openaire +5 more sources
Female Pseudohermaphroditism in 21-Hydroxylase Deficiency
1987Congenital adrenal hyperplasia (CAH) is a family of inherited disorders of adrenal steroidogenesis. Each of these disorders has a characteristic pattern of hormonal abnormalities caused by an inherited deficiency of one of the several enzymes necessary for normal steroid synthesis.
openaire +2 more sources