Zobrazeno 1 - 10
of 14 387
pro vyhledávání: '"CONGENITAL ADRENAL HYPERPLASIA"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background Molecular analysis of the CYP21A2 gene is highly important for understanding the aetiology of 21-hydroxylase deficiency (21-OHD). The aim of this study was to use a novel approach named CNVplex, together with the SNaPshot assay an
Externí odkaz:
https://doaj.org/article/643376abb7dc4856a79b7bcafc8cb11c
Autor:
Jidong Liu, Huihui Tian, Xinchen Jin, Yanxiang Wang, Zhenhong Zhang, Mengxue Li, Lulu Dai, Xiaoli Zhang, Ling Jiang
Publikováno v:
BMC Endocrine Disorders, Vol 24, Iss 1, Pp 1-8 (2024)
Abstract Background 11β-hydroxylase deficiency (11β-OHD), caused by homozygosity or compound heterozygosity CYP11B1 variants, is the second most common cause of congenital adrenal hyperplasia (CAH). Due to the high degree of sequence identity betwe
Externí odkaz:
https://doaj.org/article/181d36ce8cd346c38ad49fe735fa276f
Autor:
Xuejiao Cui, Ping Li
Publikováno v:
Reproductive Health, Vol 21, Iss 1, Pp 1-12 (2024)
Abstract Objective A single-center observational study to determine the clinical characteristics and therapeutic dose adjustments in women of reproductive age with infertility and non-classical 21-hydroxylase deficiency (NC-21OHD). Design A retrospec
Externí odkaz:
https://doaj.org/article/7edbd1325b9d4ad9872a6622f5222de7
Autor:
Mohamed Hssaini, Sana Abourazzak, Ihsane El Otmani, Mohamed Ahakoud, Amina Ameli, Laila Bouguenouch, Hicham Bekkari
Publikováno v:
Endocrine Connections, Vol 13, Iss 10, Pp 1-10 (2024)
Background: Differences/disorders of sex development (DSD) encompass a wide range of conditions. Their clinical spectrum and etiological diagnosis have not been reported in Moroccan patients. Aims: The study aims to highlight the clinical spectrum, e
Externí odkaz:
https://doaj.org/article/c3a23ca68f05438994ee994e45daac26
Autor:
Irene Fylaktou, Anny Mertzanian, Ioanna Farakla, Alexandros Gryparis, Ioannis Anargyros Vasilakis, Maria Binou, Evangelia Charmandari, Christina Kanaka-Gantenbein, Amalia Sertedaki
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 10, Pp 10696-10713 (2024)
21-hydroxylase deficiency (21-OHD) represents the most common form of congenital adrenal hyperplasia (CAH) due to CYP21A2 gene pathogenic variants. Τhe aim of this study was the identification of CYP21A2 variants in 500 subjects of Greek origin with
Externí odkaz:
https://doaj.org/article/e59b3635a8214b3b8999d8e6b684b49e
Publikováno v:
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-6 (2024)
Abstract Background 17-Hydroxylase deficiency is the rarest form of congenital adrenal hyperplasia, a disorder that affects steroidogenesis, causing abnormal hormone levels. Studies have shown a clear association between 17-hydroxylase deficiency and
Externí odkaz:
https://doaj.org/article/746ee57f4c7f4370a2c39fa000c86d2d
Autor:
Aled Daffyd Rees, Deborah P Merke, Wiebke Arlt, Aude Brac De La Perriere, Angelica Linden-Hirschberg, Anders Juul, John Newell-Price, Alessandro Prete, Nicole Reisch, Nike M Stikkelbroeck, Philippe A Touraine, Alex Lewis, John Porter, Helen Coope, Richard J Ross
Publikováno v:
Endocrine Connections, Vol 13, Iss 8, Pp 1-8 (2024)
Background: Prednisolone and prednisone are recommended treatment options for adults with congenital adrenal hyperplasia (CAH); however, there is no randomised comparison of prednis(ol)one with hydrocortisone. Design: Six-month open-label randomised
Externí odkaz:
https://doaj.org/article/9c082fbf1ccd444a90aea6c8d0fd6b11
Autor:
Maedeh Noori, Zahra Talebpour
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Quantifying small amounts of the 17-hydroxyprogesterone in various matrix is crucial for different purposes. In this study, a commercial polydimethylsiloxane stir bar was used to extract hormone from water and urine samples. Analysis was per
Externí odkaz:
https://doaj.org/article/0892e9f977da409a87467fe33064362a
Publikováno v:
BMC Endocrine Disorders, Vol 24, Iss 1, Pp 1-6 (2024)
Abstract Background Congenital adrenal hyperplasia (CAH) encompassed a bunch of autosomal recessive disorders characterized by impaired cortisol levels due to an enzymatic deficiency in steroid synthesis. In adult male patients with CAH, a frequent c
Externí odkaz:
https://doaj.org/article/a84725f6d1614c8abcd77218685e3866
Autor:
Qin Yan, Huancheng Su, Xuan Jing, Sufen Li, Xujiao Ji, Zhiping Zhang, Yanni Wang, Xia Huang, Tingting Xue, Xueqing Wu, Xiangrong Cui
Publikováno v:
Gynecological Endocrinology, Vol 40, Iss 1 (2024)
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 adr
Externí odkaz:
https://doaj.org/article/2b9d6f6df8d848ff8d8ba3895eb3507f