Zobrazeno 1 - 10
of 279
pro vyhledávání: '"Congenital adrenal hypoplasia"'
Autor:
Bravo Nieto Daniel, García Fernández Alba S., Díaz Troyano Noelia, Arnaiz Marina Giralt, Arias García Andrea, Fernández Álvarez Paula, Campos Martorell Ariadna, Ferrer Costa Roser, Clemente León María
Publikováno v:
Advances in Laboratory Medicine, Vol 4, Iss 2, Pp 195-198 (2023)
Congenital X-linked adrenal hypoplasia is a rare disease with a known genetic basis characterized by adrenal insufficiency, hypogonadotropic hypogonadism, and a wide variety of clinical manifestations.
Externí odkaz:
https://doaj.org/article/9e0413265b3141d0a1d7f37f6abfa7df
Autor:
Asanka Rathnasiri, Udara Senarathne, Visvalingam Arunath, Thabitha Hoole, Ishara Kumarasiri, Oshanie Muthukumarana, Eresha Jasinge, Sachith Mettananda
Publikováno v:
BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-5 (2021)
Abstract Background Contiguous gene deletion syndromes are rare genomic disorders caused by deletion of large segments of DNA resulting in co-occurrence of apparently unrelated multiple clinical phenotypes. We report a boy with contiguous gene deleti
Externí odkaz:
https://doaj.org/article/5e97017a0b574e7aa36df26c17afa31e
Autor:
Hong Ouyang, Bo Chen, Na Wu, Ling Li, Runyu Du, Meichen Qian, Wenshu Yu, Yujing He, Xinyan Liu
Publikováno v:
BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-9 (2021)
Abstract Background Most patients with congenital adrenal hypoplasia (AHC) develop symptoms during infantile and juvenile periods, with varying clinical manifestations. AHC is a disease that is easily misdiagnosed as Addison’s disease or congenital
Externí odkaz:
https://doaj.org/article/7f3f12fef4014f9181fd2b64a513de76
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)
Abstract Background Adrenal hypoplasia is a rare congenital disorder, which can be classified into a non-syndromic form, without extra-adrenal features, and a syndromic form, with such features. Despite biochemical and molecular genetic evaluation, e
Externí odkaz:
https://doaj.org/article/45dfce9fcf56410f93e3ce3bd06b9521
Autor:
U.D. Senarathne, Sachith Mettananda, Oshanie Muthukumarana, Visvalingam Arunath, Thabitha Jebaseeli Hoole, Eresha Jasinge, Asanka Rathnasiri, Ishara Minuri Kumarasiri
Publikováno v:
BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-5 (2021)
BMC Endocrine Disorders
BMC Endocrine Disorders
Background Contiguous gene deletion syndromes are rare genomic disorders caused by deletion of large segments of DNA resulting in co-occurrence of apparently unrelated multiple clinical phenotypes. We report a boy with contiguous gene deletion involv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd0987628d7b6a4d79ff547ae3b8c8e1
https://doaj.org/article/5e97017a0b574e7aa36df26c17afa31e
https://doaj.org/article/5e97017a0b574e7aa36df26c17afa31e
Publikováno v:
Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, Vol 105, Iss 1 (2017)
Congenital Adrenal hypoplasia (CAH) is a rare genetic disorder which can present two distinct modalities of transmission: recessive X-linked or recessive autosomal modality. That linked to the X chromosome is generally associated with hypogonadotropi
Externí odkaz:
https://doaj.org/article/a099dcbea8b3426191b65ce8565c1bbc
Publikováno v:
Pediatric Endocrinology Diabetes and Metabolism. 27:227-231
Complex glycerol kinase deficiency (CGKD) is a rare genetic syndrome which belongs to the group of contiguous gene syndromes and is caused by microdeletion of genes located in Xp21. Patients with CGKD present with features characteristic for adrenal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d22fb113ce3d98981245f6b2e7b8dfe0
https://doi.org/10.5114/pedm.2021.109681
https://doi.org/10.5114/pedm.2021.109681
Autor:
Ji Sook Park, Jae Young Cho, Ji Hyun Seo, Jae Young Lim, Hyang Ok Woo, Eun Sil Park, Seul Ah. Jeong, Hee-Shang Youn, Boo Kyeong Seo
Publikováno v:
BMC Endocrine Disorders, Vol 20, Iss 1, Pp 1-6 (2020)
BMC Endocrine Disorders
BMC Endocrine Disorders
Background DAX1 mutations are related to the X-linked form of adrenal hypoplasia congenita (AHC) in infancy and to hypogonadotropic hypogonadism (HH) in puberty. We report a male patient affected by X-linked AHC who presented with central diabetes in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43d6202fc3ddafb758dbbb353ef5dde1
http://link.springer.com/article/10.1186/s12902-020-00553-0
http://link.springer.com/article/10.1186/s12902-020-00553-0
Autor:
N. A. Al-Jurayyan
Background: Primary adrenal insufficiency (PAI) in children is an uncommon, but potentially fatal. The current symptoms include weakness, fatigue, anorexia, abdominal pain, weight loss, orthostatic hypotension, salt craving and characterized by hyper
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a8eec31febfee839b696e0f81c446237
https://doi.org/10.9734/bpi/nfmmr/v10/11994d
https://doi.org/10.9734/bpi/nfmmr/v10/11994d
Publikováno v:
Molecular Biology Reports. 46:4599-4604
NR0B1 (nuclear receptor subfamily 0, group B, member 1) is a transcription factor encoded by DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) responsible for the development and maintenance of the ster
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dceda4b1624d1b4868eb10b36950b68
https://doi.org/10.1007/s11033-019-04688-9
https://doi.org/10.1007/s11033-019-04688-9