Zobrazeno 1 - 10
of 14 291
pro vyhledávání: '"Congenital adrenal hyperplasia"'
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
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
Publikováno v:
JCRPE, Vol 16, Iss 2, Pp 123-136 (2024)
46,XX individuals born with severely masculinized genitals due to congenital adrenal hyperplasia (CAH) who have been assigned male at birth and reared male can successfully establish a male gender identity/role, find employment, marry, function sexua
Externí odkaz:
https://doaj.org/article/c84dde1d947748ef925a43410e5fbfef
Autor:
Abeer Aboalazayem, Ahmed Elham Fares, Samah Ahmed Hassanein Ahmed, Sherif Kaddah, Khaled Salah Ahmed Abdullateef
Publikováno v:
Egyptian Pediatric Association Gazette, Vol 72, Iss 1, Pp 1-5 (2024)
Abstract Background Congenital adrenal hyperplasia (CAH) is a common cause of urogenital sinus (UGS) anomalies. Delineating the abnormal anatomy of the UGS is crucial prior to the operative repair. Genitography and cystourethroscopy are commonly used
Externí odkaz:
https://doaj.org/article/0fa7c06e68d04e00aee1d7b686be1d64
Autor:
Paola Concolino
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 5, Pp 4832-4844 (2024)
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic defects in cortisol synthesis and shows elevated ACTH concentrations, which in turn has downstream effects. The most common variant of CAH, 21-hydroxylase deficiency (21OH
Externí odkaz:
https://doaj.org/article/c2d185a944dd4bd1843e7117f41c232f
Publikováno v:
Proceedings, Vol 38, Iss 3 (2024)
Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal-recessive condition primarily caused by 21- hydroxylase deficiency. It is the most common cause of ambiguous genitalia in infants and children. It can be a fatal condition if left unt
Externí odkaz:
https://doaj.org/article/53ad5afdbca54a838ad46ff7b0a2af45
Autor:
Zuzanna Szczepaniak, Agata Konopka, Natalia Wdowiak, Karina Lissak, Małgorzata Komarów, Martyna Choinka, Dominika Karasińska, Jakub Kalisiak
Publikováno v:
Quality in Sport, Vol 22 (2024)
Introduction: Congenital adrenal hyperplasia (CAH) is a group of diseases in which genetic defects occur that disturb the synthesis of cortisol. The most common variant of CAH (95%-99%) is caused by 21-hydroxylase deficiency as a result of mutations
Externí odkaz:
https://doaj.org/article/692ebd1b42ff44c8bb153d73aa01946c