Results 121 to 130 of about 76,273 (258)

Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions [PDF]

, 2002
Steroid 21-hydroxylase deficiency is caused by a defect in the CYP21A2 gene. CYP21A2, the adjacent complement C4 gene and parts of the flanking genes RP1 and TNXB constitute a tandemly duplicated arrangement in the central (class III ...
Degenhart, H.J. (Herman), Hoogenboezem, T. (Theo), Koppens, P.F.J.   +2 more
core   +2 more sources

A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.

Journal of Biological Chemistry, 1990
Congenital adrenal hyperplasia (CAH) is a common recessive genetic disease caused mainly by steroid 21-hydroxylase (P450c21) deficiency. Many forms of CAH exist resulting from various mutations of the CYP21B gene.
S. Chiou, M. C. Hu, B. Chung
semanticscholar   +1 more source

Adrenogenital syndrome: molecular mechanisms of development

Mìžnarodnij Endokrinologìčnij Žurnal, 2017
On the long multistage pathway of biosynthesis of steroid hormones from cholesterol to cortisol, testo­sterone and estradiol, due to mutations in genes, there is the deficiency of steroidogenesis enzymes in the adrenal glands: cholesterol desmolase, 3β ...
V.P. Pishak, M.O. Ryznychuk
doaj   +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

Genotype–phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21‐hydroxylase deficiency

Molecular Genetics & Genomic Medicine, 2019
Background Steroid 21‐hydroxylase deficiency (21OHD) is the most common enzymatic defect, but the genotype–phenotype associations have not been well established in Chinese patients.
Chao Xu, Wenyu Jia, Xiangdeng Cheng, Hui Ying, Jing Chen, Jin Xu, Qingbo Guan, Xinli Zhou, Dongmei Zheng, Guimei Li, Jiajun Zhao   +10 more
doaj   +1 more source

Steroid metabolites producing adenoma: a case report

Ожирение и метаболизм
Hyperandrogenism is the most prevalent cause of menstrual cycle abnormalities and infertility in women. Here, we present a case of a 32-year-old woman with a 7-year history of menstrual irregularity and infertility.
K. V. Ivashchenko, K. A. Komshilova, N. V. Molashenko, A. A. Lavreniuk, A. M. Lapshina, I. V. Kim, V. A. Ioutsi, M. A. Antsupova, M. V. Utkina, N. M. Platonova, E. A. Troshina, N. G. Mokrysheva   +11 more
doaj   +1 more source

[Efficacy of letrozole in treatment of children with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency]. [PDF]

Zhejiang Da Xue Xue Bao Yi Xue Ban, 2020
Wang Q, Zhang S, Ma X, Li G, Wang Z, Wang F.   +5 more
europepmc   +1 more source

Perturbations in Lineage Specification of Granulosa and Theca Cells May Alter Corpus Luteum Formation and Function [PDF]

, 2019
Anovulation is a major cause of infertility, and it is the major leading reproductive disorder in mammalian females. Without ovulation, an oocyte is not released from the ovarian follicle to be fertilized and a corpus luteum is not formed.
Abedel-Majed, Mohamed A., Cupp, Andrea S., Davis, John S., Romereim, Sarah M.   +3 more
core   +1 more source

Primary adrenal insufficiency presenting as rhabdomyolysis and severe hyponatremia after COVID-19 infection

Journal of Clinical and Translational Endocrinology Case Reports
A 28-year-old male with no medical history except recent, untreated, COVID-19 infection presented with subjective weakness, weight loss, severe hyponatremia, rhabdomyolysis, and new diagnosis primary adrenal insufficiency; a unique clinical presentation ...
Spencer Bonnerup, Elizabeth Cho, Ashton Bosler-Spencer, Adrian Singson, Margaret Beliveau-Ficalora   +4 more
doaj   +1 more source

Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency – characterization of a new genetic variant

Endocrinology, Diabetes & Metabolism Case Reports
Congenital adrenal hyperplasia (CAH) is one of the most common inherited rare endocrine disorders. This case report presents two female siblings with delayed diagnosis of non-classical CAH 3β-hydroxysteroid dehydrogenase type 2 (3βHSD2D/HSD3B2) despite ...
Cagla Margit Øzdemir, Mette Mølby Nielsen, Jani Liimatta, Clarissa D Voegel, Rawda Naamneh Elzenaty, Victor S Wasehuus, Marie Lind-Holst, Marie Juul Ornstrup, Stine Bjørn Gram, Lilian Bomme Ousager, Christa E Flück, Claus H Gravholt   +11 more
doaj   +1 more source