Results 1 to 10 of about 119,846 (214)

21-Hydroxylase deficiency in Brazil [PDF]

Brazilian Journal of Medical and Biological Research, 2000
We determined the frequency of large rearrangements and point mutations in 130 Brazilian patients with 21-hydroxylase deficiency and correlated genotype with phenotype. The frequency of CYP21 deletions was lower (4.4%) than in most of the previous series
T.A.S.S. Bachega, A.E.C. Billerbeck, G. Madureira, J.A.M. Marcondes, C.A. Longui, M.V. Leite, I.J.P. Arnhold, B.B. Mendonça   +7 more
doaj   +5 more sources

Fertility in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review [PDF]

Frontiers in Endocrinology
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive disorder affecting adrenal steroidogenesis, leading to cortisol deficiency, androgen oversecretion and adrenal glands’ hyperplasia.
Zuzanna Roszkowska, Małgorzata Bobrowicz, Joanna Betlejewska, Joanna Betlejewska, Joanna Hubska, Joanna Hubska, Beata Rak-Makowska, Beata Rak-Makowska, Urszula Ambroziak   +8 more
doaj   +2 more sources

Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency [PDF]

BMC Medical Genetics, 2010
Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by deletions, large gene conversions or mutations in CYP21A2 gene. The human gene is located at 6p21.3 within a locus containing the genes for putative serine/threonine ...
Guerra-Júnior Gil, Baptista Maria TM, de Lemos-Marini Sofia HV, Petroli Reginaldo J, Lau Ivy F, Paulino Luciana C, de Araújo Marcela, Bernardi Renan D, Soardi Fernanda C, Coeli Fernanda B, de-Mello Maricilda P   +10 more
doaj   +5 more sources

Adrenal adenoma secreting 17-hydroxyprogesterone mimicking non-classical 21-hydroxylase deficiency [PDF]

Frontiers in Endocrinology
In adrenal steroidogenesis, 17-hydroxyprogesterone (17-OHP) is a substrate for 21-hydroxylase, one of the crucial enzymes of the cortisol and aldosterone biosynthesis pathway.
Beata Woźniak, Dorota Leszczyńska, Alicja Szatko, Alicja Szatko, Karolina Nowak, Radosław Samsel, Anna Siejka, Lucyna Papierska, Wojciech Zgliczyński, Henrik Falhammar, Henrik Falhammar, Piotr Glinicki, Piotr Glinicki   +12 more
doaj   +2 more sources

High‐Dose Hormone Replacement Therapy Improved Embryo Transfer Outcomes in a Woman With 21‐Hydroxylase Deficiency Who Had Persistently High Serum Progesterone Levels: A Case Report and Literature Review [PDF]

Clinical Case Reports
Women with 21‐hydroxylase deficiency have reduced fertility because of excessive production of adrenal androgen and progesterone, which can inhibit folliculogenesis, disturb the normal gonadotropin secretion pattern and development of the endometrium ...
Yuri Mizusawa, Hiroaki Shibahara, Masahide Shiotani   +2 more
doaj   +2 more sources

Specific characteristics of metabolomics as assessed by gas chromatography-mass spectrometry in patients with adrenocortical cancer and with adrenal incidentalomas in congenital adrenal hyperplasia

Alʹmanah Kliničeskoj Mediciny, 2022
Background: Prolonged episodes of uncontrolled congenital adrenal hyperplasia (CAH) have been shown to result in the occurrence of secondary adrenal neoplasms.
Zulfiya R. Shafigullina, Ludmila I. Velikanova, Natalia V. Vorokhobina, Ekaterina V. Malevanaya, Elena G. Strelnikova, Vagan Yu. Bokhian, Timur A. Britvin, Ivan S. Stilidi   +7 more
doaj   +1 more source

Best Practice for Identification of Classical 21-Hydroxylase Deficiency Should Include 21 Deoxycortisol Analysis with Appropriate Isomeric Steroid Separation

International Journal of Neonatal Screening, 2023
There are mixed reports on the inclusion and use of 21 deoxycortisol (21DF) as the primary decision marker for classical 21-hydroxylase deficiency.
Ronda F. Greaves, Monish Kumar, Nazha Mawad, Alberto Francescon, Chris Le, Michele O’Connell, James Chi, James Pitt   +7 more
doaj   +1 more source

NON-CLASSIC 21 HYDROXYLASE DEFICIENCY CAUSED BY NEW COMPOUND HETEROZYGOUS MUTATIONS: A CASE REPORT AND LITERATURE REVIEW [PDF]

精准医学杂志, 2023
Objective To report the genetic information of a patient with non-classic 21 hydroxylase deficiency (21-OHD) for enriching the genetic database of this disease.
QI Mengmeng, WANG Xuemei, LIU Yunting, WANG Qian, XIN Qianyu, LIN Hua, LYU Wenshan, YANG Lili
doaj   +1 more source

Mass spectrometry: an essential tool to be used in discrimination between causes of congenital adrenal hyperplasia, and its benefits versus radioimmunoassay

Beni-Suef University Journal of Basic and Applied Sciences, 2021
Background Measurement of multiple steroids, 17 hydroxyprogesterone, 11 deoxycortisol, and 21 deoxycortisol, is required to discriminate between congenital adrenal hyperplasia due to 21 hydroxylase deficiency and that due to 11 beta hydroxylase ...
Heba Asfour, Heba Baz, Hend Soliman, Yasmine Elshiwy, Marwa Elsharkawy, Fatma Elmougy, Marianne Morgan   +6 more
doaj   +1 more source

Prior to versus after Metformin Treatment—Effects on Steroid Enzymatic Activities

Life, 2023
Background: We recently reported that metformin administration has substantial effects on steroid hormone concentrations. In this study, we specifically explored which enzymatic activities were affected before a first treatment versus after a time of ...
Benedikt Gasser, Genevieve Escher, Anca-Elena Calin, Michael Deppeler, Miriam Marchon, Hiten D. Mistry, Johann Kurz, Markus G. Mohaupt   +7 more
doaj   +1 more source