Results 71 to 80 of about 26,513 (179)

Assay of steroids by liquid chromatography–tandem mass spectrometry in monitoring 21-hydroxylase deficiency

Endocrine Connections, 2018
Immunoassays of steroid hormones are still used in the diagnosis and monitoring of patients with congenital adrenal hyperplasia. However, cross-reactivity between steroids can give rise to falsely elevated steroid levels.
Sandra R Dahl, Ingrid Nermoen, Ingeborg Brønstad, Eystein S Husebye, Kristian Løvås, Per M Thorsby   +5 more
doaj   +1 more source

Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants

JCRPE, 2020
Objective:Turkish Directorate of Public Health introduced the first pilot screening program for congenital adrenal hyperplasia (CAH) in four Turkish cities in 2017, and in 2018 extended the program, with a slight change in screening strategy, to fourteen
Tülay Güran, Başak Tezel, Meltem Çakır, Ayşehan Akıncı, Zerrin Orbak, Mehmet Keskin, Beray Selver Eklioğlu, Alev Ozon, Mehmet Nuri Özbek, Gülay Karagüzel, Nihal Hatipoğlu, Fatih Gürbüz, Filiz Mine Çizmecioğlu, Cengiz Kara, Enver Şimşek, Firdevs Baş, Murat Aydın, Feyza Darendeliler   +17 more
doaj   +1 more source

Why Human Cytochrome P450c21 Is a Progesterone 21-Hydroxylase

, 2016
Human cytochrome P450c21 (steroid 21-hydroxylase, CYP21A2) catalyzes the 21-hydroxylation of progesterone (P4) and its preferred substrate 17α-hydroxyprogestrone (17OHP4).
Dario Mizrachi (367315), Zhu Wang (73828), Manisha K. Gupta (2199547), Richard J. Auchus (343489), Christopher R. Dwyer (2199553), Kamalesh K. Sharma (2046055), Keliang Xu (2199550)   +6 more
core   +1 more source

Autoimmune Addison's disease Analysis of autoantibody binding sites on human steroid 21-hydroxylase

, 1993
Human steroid 21-hydroxylase (21-OH) expressed in an in vitro translation system was found to react specifically with adrenal autoantibodies from patients with Addison's disease.
J. Furmaniak, Baumann-Antczak, A., T. Asawa, Asawa, T., A. Baumann-Antczak, Furmaniak, J., N. Wedlock, Wedlock, N., B.Rees Smith, Smith, B.Rees   +9 more
core   +1 more source

21-hydroxylase Deficiency Transiently Mimicking Combined 21- And 11β-hydroxylase Deficiency

, 2015
21-Hydroxylase deficiency (21OHD) is the commonest form of congenital adrenal hyperplasia, while 11βOHD represents 5% of cases. Although both result from mutations in distinct genes, cases of 'apparent' combined 21OHD and 11βOHD (AC21,11OHD) have been ...
Kater C.E., De Mello M.P., Lemos-Marini S.H.V., Tonetto-Fernandes V., Ribeiro-Neto L.M.   +4 more
core  

Limited Value of Serum Steroid Measurements in Identification of Mild Form of 21-Hydroxylase Deficiency

, 2003
Background: ACTH stimulation test is widely used as a basic diagnostic method for non-classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD).
J. Homoki, M. Garami, Halász, Zita, Homoki, J., D. Török, Z. Halász, Fekete, György, Török, Dóra, Garami, Miklós, J. Sólyom, Sólyom, János, G. Fekete   +11 more
core   +1 more source

CYP21A2 intronic variants causing 21-hydroxylase deficiency

, 2017
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase gene (CYP21A2). Most of CYP21A2 mutations result from intergenic recombinations between CYP21A2 and closely linked CYP21A1P ...
Cecilia Zuppi, Capoluongo E, Rizza R, Zuppi C, Carrozza, C, Alessandra Costella, Cinzia Carrozza, Capoluongo, E., Rizza, R, Concolino P, Costella A, Paola Concolino, Roberta Rizza, Ettore Capoluongo, Costella, A, Zuppi, C, Carrozza C   +16 more
core   +1 more source

Clinical Presentation and Genetic Analysis of Neonatal 11β-Hydroxylase Deficiency Induced by a Chimeric CYP11B2/CYP11B1 Gene

JCRPE
In terms of prevalence, 11β-hydroxylase deficiency (11β-OHD), a common form of congenital adrenal hyperplasia, closely follows 21-hydroxylase deficiency.
Wenjuan Cai, Dan Yu, Jian Gao, Qian Deng, Huihui Lin, Yuqing Chen   +5 more
doaj   +1 more source

Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency

, 2015
The most common enzymatic defect of steroid synthesis is deficiency of the adrenal steroid 21-hydroxylase. Inhibition of the formation of cortisol results in an increased pituitary release of ACTH which in turn drives the adrenal cortex to overproduce ...
Farah, SB, Suzuki, LA, deMello, MP, Sanches, M R, de-Araujo, M, Farah, S B, de-Mello, M P, Sanches, MR, Guerra, G, Suzuki, L A, deAraujo, M   +10 more
core  

Mutations Of Pro30Leu And Val281Leu Of The Cyp21 Gene In Patients Diagnosed With Ambiguous Genitalia. [PDF]

, 2002
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal ...
Muhamad, Y.K., Ramli, S.F., Rus Anida, A., Sidek, M.Ros, Fuziah, M.Z., Isa, M.N.   +5 more
core