Results 81 to 90 of about 19,474 (186)

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

Assisted Reproduction in Congenital Adrenal Hyperplasia

Frontiers in Endocrinology, 2019
Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders characterized by defects of adrenal steroidogenesis due to mutations in one of the following enzymes: 21-hydroxylase (21OH), 11β-hydroxylase (11βOH), 17α-hydroxylase (17OH ...
Anastasios Chatziaggelou, Evangelos G. Sakkas, Raffaella Votino, Maria Papagianni, George Mastorakos   +4 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

Steroid 21-Hydroxylase [PDF]

, 2020
openaire   +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

Regulation of Extraadrenal Steroid 21-Hydroxylase Activity [PDF]

Journal of Clinical Investigation, 1982
Paul C. MacDonald, Susan Cutrer, Sue C. MacDonald, M. Linette Casey, C. Richard Parker   +4 more
openaire   +1 more source

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   +1 more source

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   +1 more source