Results 11 to 20 of about 35,670 (271)

Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency. [PDF]

Clin Pediatr Endocrinol, 2008
Steroid 21-hydroxylase deficiency (21-OHD) accounts for 90-95% of congenital adrenal hyperplasia (CAH) cases. It is classified into three distinct clinical phenotypes: the salt-wasting (SW), simple virilizing (SV) and nonclassical forms (NC). As girls with the SW and SV forms of 21-OHD are exposed to high systemic levels of adrenal androgens during ...
Tajima T, Fujieda K.
europepmc   +5 more sources

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline. [PDF]

J Clin Endocrinol Metab, 2018
Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, Meyer-Bahlburg HFL, Miller WL, Murad MH, Oberfield SE, White PC.   +10 more
europepmc   +2 more sources

Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India. [PDF]

Indian J Med Res, 2017
Dubey S, Tardy V, Chowdhury MR, Gupta N, Jain V, Deka D, Sharma P, Morel Y, Kabra M.   +8 more
europepmc   +2 more sources

Antenatal Diagnosis and Treatment in Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency and Congenital Adrenal Hyperplasia Screening in Newborns [PDF]

JCRPE
Signs of virilization, such as clitoromegaly, labio-scrotal fusion, and urogenital sinus may be observed in females with 21-hydroxylase deficiency (21-OHD) and other rare virilizing forms of congenital adrenal hyperplasia (CAH).
Zehra Yavaş Abalı, Erdal Kurnaz, Tülay Güran   +2 more
doaj   +2 more sources

Human Cytochrome P450 21A2, the Major Steroid 21-Hydroxylase: STRUCTURE OF THE ENZYME·PROGESTERONE SUBSTRATE COMPLEX AND RATE-LIMITING C-H BOND CLEAVAGE. [PDF]

J Biol Chem, 2015
Pallan PS, Wang C, Lei L, Yoshimoto FK, Auchus RJ, Waterman MR, Guengerich FP, Egli M.   +7 more
europepmc   +2 more sources

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

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

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