Zobrazeno 1 - 10
of 785
pro vyhledávání: '"Adrenal hypoplasia congenita"'
Autor:
Wanqi Zheng, Ying Duan, Yu Xia, Lili Liang, Zhuwen Gong, Ruifang Wang, Deyun Lu, Kaichuang Zhang, Yi Yang, Yuning Sun, Huiwen Zhang, Lianshu Han, Zizhen Gong, Bing Xiao, Wenjuan Qiu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-14 (2023)
Abstract Background X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency (PAI) and hypogonadotropic hypogonadism (HH), with limited clinical and genetic characterization. Methods The clinical,
Externí odkaz:
https://doaj.org/article/f9707ff88ac3441c84a4bef5ede3aeb3
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
Nuclear receptor subfamily 0 group B member 1 gene (NR0B1) encodes an orphan nuclear receptor that plays a critical role in the development and regulation of the adrenal gland and hypothalamic–pituitary–gonadal axis. In this study, we report a no
Externí odkaz:
https://doaj.org/article/2e86986673414a9a9810c35e4eb47197
Autor:
Boo Kyeong Seo, Seul Ah. Jeong, Jae Young Cho, Ji Sook Park, Ji-Hyun Seo, Eun Sil Park, Jae-Young Lim, Hyang-Ok Woo, Hee-Shang Youn
Publikováno v:
BMC Endocrine Disorders, Vol 20, Iss 1, Pp 1-6 (2020)
Abstract 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 di
Externí odkaz:
https://doaj.org/article/4675c178af884f3c8613e28054689f63
Autor:
Michelle Cerutti C. Vargas, Felipe Scipião Moura, Cecília P. Elias, Sara R. Carvalho, Nelson Rassi, Ilda S. Kunii, Magnus R. Dias-da-Silva, Flavia Amanda Costa-Barbosa
Publikováno v:
BMC Endocrine Disorders, Vol 20, Iss 1, Pp 1-7 (2020)
Abstract Background Adrenal hypoplasia congenita (AHC) is an X-linked disorder that affects the adrenal cortex and hypothalamus-pituitary-gonadal axis (HPG), leading to primary adrenocortical insufficiency (PAI) and hypogonadotropic hypogonadism. AHC
Externí odkaz:
https://doaj.org/article/82085d1044cc4aaab002f6985a5c818c
Autor:
Inês Pires Duro, Sara Mosca, Graça Araújo, Joana Lorenzo, Catarina Figueiredo, Joana Freitas, Maria João Oliveira, Teresa Borges
Publikováno v:
Journal of Pediatric and Neonatal Individualized Medicine, Vol 11, Iss 1, Pp e110108-e110108 (2021)
Background: Primary adrenal insufficiency (PAI) can be caused by multiple etiologies. One of the rarest is X-linked adrenal hypoplasia congenita (AHC), a disorder of adrenal development that results from mutations in the NR0B1/DAX1 gene and in which
Externí odkaz:
https://doaj.org/article/573dbcba2fe34ac090224d4b888d92e7
Autor:
Rajesh Joshi, Karthik Shroff
Publikováno v:
Sri Lanka Journal of Medicine, Vol 29, Iss 1, Pp 32-34 (2020)
AHC (X-linked adrenal hypoplasia congenita) is a rare cause of adrenal insufficiency due to mutations in the DAX1 gene. It traditionally causes hypogonadotropic hypogonadism. We present a boy with AHC presenting with primary adrenal insufficiency at
Externí odkaz:
https://doaj.org/article/9c2662cabdfa44e386ab216f5866acff
Autor:
Lorenzo Iughetti, Laura Lucaccioni, Patrizia Bruzzi, Silvia Ciancia, Elena Bigi, Simona Filomena Madeo, Barbara Predieri, Florence Roucher-Boulez
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
Abstract Background X-linked Adrenal Hypoplasia Congenita (AHC) is a rare cause of primary adrenal insufficiency due to mutations in the NR0B1 gene, causing a loss of function of the nuclear receptor protein DAX-1. Adrenal insufficiency usually appea
Externí odkaz:
https://doaj.org/article/ec150d01b8a7412dab3fd8beb6b7d8d1
Akademický článek
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Akademický článek
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Autor:
Jinzhi Gao, Ling Chen
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Primary adrenocortical insufficiency (PAI) is an important cause of morbidity in neonates. The most common cause of PAI in neonates is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD). Other rarer monogenic cases, for ex
Externí odkaz:
https://doaj.org/article/20b820ea7bf94d74a64a75a03dff7759