Results 21 to 30 of about 19,718 (218)

Growth characteristics of children with 21-hydroxylase deficiency and the value of steroid hormones in height assessment [PDF]

BMC Pediatrics
Background Impaired height is a common complication of 21-hydroxylase deficiency (21OHD), yet sensitive monitoring indicators remain limited. This study aims to elucidate growth characteristics and identify effective monitoring parameters for 21OHD ...
Hemeng Chong, Yalei Pi, Yanan Zhang, Yuqian Li, Yutong Xing, Huifeng Zhang   +5 more
doaj   +2 more sources

MUTATIONAL SPECTRUM OF THE STEROID 21-HYDROXYLASE GENE [PDF]

Pediatric Research, 1993
Lesions in the gene encoding steroid 21-hydroxylase (CYP21) result in defective adrenal steroid synthesis; the severe forms are known as congenital adrenal hyperplasia. To facilitate.complete characterization of mutations in this region of landemly repeated genes, we have developed selective PCR amplification and direct sequencing of full-length ...
Anna Wedell, E. Martin Ritzén, Holger Luthman   +2 more
openalex   +2 more sources

Steroid 21-hydroxylase deficiency dysregulates essential molecular pathways of metabolism and energy provision [PDF]

Biology Open
Irina Bacila, Lara Oberski, Nan Li, Karl-Heinz Storbeck, Vincent T. Cunliffe, Nils Krone   +5 more
doaj   +2 more sources

Common genetic variants of the human steroid 21-hydroxylase gene (CYP21A2) are related to differences in circulating hormone levels. [PDF]

PLoS One, 2014
Doleschall M, Szabó JA, Pázmándi J, Szilágyi Á, Koncz K, Farkas H, Tóth M, Igaz P, Gláz E, Prohászka Z, Korbonits M, Rácz K, Füst G, Patócs A.   +13 more
europepmc   +3 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

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

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

Congenital adrenal hyperplasia due to steroid 21‐hydroxylase deficiency [PDF]

Clinical Endocrinology, 1998
Phyllis Speiser, Perrin C. White
openalex   +3 more sources

Phenotypically Male Congenital Adrenal Hyperplasia Patient with Huge Space-occupying Adrenal Masses: a Case Report and Literature Review [PDF]

Zhongguo quanke yixue, 2023
Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disease encompassing enzyme deficiencies in the process of adrenal steroidogenesis, which leads to adrenal cortex dysfunction.
RAO Yufeng, MENG Liheng, ZHOU Jia, LIANG Xinghuan, HUANG Zhenxing, QIN Yingfen
doaj   +1 more source

Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2016
The term congenital adrenal hyperplasia (CAH) covers a group of autosomal recessive disorders caused by defects in one of the steroidogenic enzymes involved in the synthesis of cortisol or aldosterone from cholesterol in the adrenal glands. Approximately
Jin-Ho Choi, Gu-Hwan Kim, Han-Wook Yoo
doaj   +1 more source