Results 111 to 120 of about 4,073 (218)

Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients.

PLoS ONE, 2011
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism, and accounts for 90-95% of CAH cases.
Carolina Minutolo, Alejandro D Nadra, Cecilia Fernández, Melisa Taboas, Noemí Buzzalino, Bárbara Casali, Susana Belli, Eduardo H Charreau, Liliana Alba, Liliana Dain   +9 more
doaj   +1 more source

Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene. [PDF]

Hormones (Athens), 2023
Fanis P, Skordis N, Phylactou LA, Neocleous V.   +3 more
europepmc   +1 more source

A de novo mutation in CYP21A2 gene in a case of in vitro fertilization

Molecular Genetics and Metabolism Reports, 2015
Congenital adrenal hyperplasia, one of the most frequent autosome recessive disorders, is caused by defects in steroidogenic enzymes involved in the cortisol biosynthesis. Approximately 95% of the cases are caused by abnormal function of the 21-hydroxylase enzyme. This deficiency leads to androgen excess, consequently, to virilization and rapid somatic
Silva-Grecco, Roseane Lopes da, de Paula Michelatto, Débora, Lincoln-de-Carvalho, Carolina Rodrigues, Henrique, Pamela Pontes, da Cunha, Heloísa Marcelina, Palandi-de-Mello, Maricilda   +5 more
openaire   +3 more sources

Hiperplasia congénita da supra-renal não clássica (hcsr-nc) por deficiência de 21-hidroxilase: avaliação clínica e aconselhamento genético de duas famílias portuguesas [PDF]

, 2016
Introdução: A hiperplasia congénita da supra renal surge por deficiência de 21-hidroxilase em 90-95% dos casos. É uma das doenças hereditárias de transmissão autossómica recessiva mais frequente.
Antunes, Diana, Castelo Branco, Sara, Gomes, Susana, Gonçalves, João, Kay, Teresa, Lopes, Lurdes, Matos, Lurdes Godinho, Pereira-Caetano, Iris   +7 more
core  

Classic congenital adrenal hyperplasia with unilateral functional adrenal cortical adenoma: case report

Gynecological Endocrinology
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders related to adrenal steroid biosynthesis, and mainly caused by mutations in the CYP21A2 gene encoding 21-hydroxylase. Adrenal tumors are common in CAH, but functional adrenal
Qin Yan, Huancheng Su, Xuan Jing, Sufen Li, Xujiao Ji, Zhiping Zhang, Yanni Wang, Xia Huang, Tingting Xue, Xueqing Wu, Xiangrong Cui   +10 more
doaj   +1 more source

The Associations of Androgen-Related Genes CYP21A2 and CYP19A1 with Severe Acne Vulgaris in Patients from Southwest China

Clinical, Cosmetic and Investigational Dermatology, 2021
Ting Yang,1,2 Wen-Juan Wu,1 Li-Ming Tian,3 Deng-Feng Zhang,4 Xiao-Yan Yang,1 Jue Qi,1 Ying Tu,1 Li He1 1Department of Dermatology, First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, 650023, People’s Republic of China ...
Yang T, Wu WJ, Tian LM, Zhang DF, Yang XY, Qi J, Tu Y, He L   +7 more
doaj  

CYP21A2 Gene Expression in a Humanized 21-Hydroxylase Mouse Model Does Not Affect Adrenocortical Morphology and Function. [PDF]

J Endocr Soc, 2022
Schubert T, Reisch N, Naumann R, Reichardt I, Landgraf D, Quitter F, Thirumalasetty SR, Heninger AK, Sarov M, Peitzsch M, Huebner A, Koehler K.   +11 more
europepmc   +1 more source

Nonclassic Congenital Adrenal Hyperplasia (NCCAH) Due to 21-Hydroxylase Deficiency: Clinical Management and Genetic Counseling of Two Portuguese Families [PDF]

, 2016
Introduction: Congenital adrenal hyperplasia (CAH) due to 21-Hydroxylase deficiency occurs in 90-95% of cases, being a common autosomal recessive condition that can present with a wide range of hyperandrogenemic signs in childhood or adulthood ...
Antunes, Diana, Gonçalves, João, Kay, Teresa, Lopes, Lurdes, Lurdes de Matos, Maria   +4 more
core  

Non-Classical 21-Hydroxylase Deficiency: Analysis of a Mutant Gene in a Uyghur Family and Literature Review

Pharmacogenomics and Personalized Medicine, 2021
Jimilanmu Maimaitiming,1 Guli Amuti,1 AiHeMaiTiJiang TuHuTi,1 Yuan Chen,1 Xiang-Xin Song,1 Jing Wang,1 Adila Alimu,1 Kaidi Zhang,1 Munila Abudounaiyimu,1 Jun Jiang,2 Xin-Ling Wang,1 Yan-Ying Guo1 1People’ s Hospital of Xinjiang Uygur Autonomous ...
Maimaitiming J, Amuti G, TuHuTi A, Chen Y, Song XX, Wang J, Alimu A, Zhang K, Abudounaiyimu M, Jiang J, Wang XL, Guo YY   +11 more
doaj  

A novel mutation in HSD11B2 causes apparent mineralocorticoid excess in an Omani kindred [PDF]

, 2016
Apparent mineralocorticoid excess (AME) is a rare autosomal recessive genetic disorder causing severe hypertension in childhood due to a deficiency of 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2), which is encoded by HSD11B2.
Abdullah, W, Al Azkawi, HS, Al Badi, M, Al Senani, A, Haider, S, Khattab, A, New, MI, Wilson, RC, Yau, M, Yuen, T, Zaidi, M   +10 more
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