Zobrazeno 1 - 10
of 407
pro vyhledávání: '"Combined pituitary hormone deficiency"'
Autor:
Lukas Plachy, Petra Dusatkova, Klara Maratova, Shenali Anne Amaratunga, Dana Zemkova, Vit Neuman, Stanislava Kolouskova, Barbora Obermannova, Marta Snajderova, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova
Publikováno v:
Endocrine Connections, Vol 13, Iss 10, Pp 1-8 (2024)
Because the causes of combined pituitary hormone deficiency (CPHD) are complex, the etiology of congenital CPHD remains unknown in most cases. The aim of the study was to identify the genetic etiology of CPHD in a well-defined single-center cohort. I
Externí odkaz:
https://doaj.org/article/bd019d5695e14abdacc13ff0b6d850ca
Autor:
Yohei Ishiki, Atsuko Tamaki, Ken-ichiro Honma, Ken Yonaha, Takamitsu Yabiku, Taiki Teruya, Moriyuki Uehara, Yoshiro Nakayama, Rei Chinen, Tsugumi Uema, Sawako Nakachi, Shiki Okamoto, Hiroaki Masuzaki
Publikováno v:
Endocrine Journal, Vol 71, Iss 8, Pp 817-824 (2024)
Post-traumatic pituitary stalk transection syndrome (PSTS) is an extremely rare cause of combined pituitary hormone deficiency (CPHD), affecting approximately 9 per 100,000 cases of traumatic brain injury. In contrast, pituitary stalk interruption sy
Externí odkaz:
https://doaj.org/article/94bc867a5dcb4b549d4212e20da8e97e
Autor:
Yoshinari Obata, Kana Takayama, Hideyuki Nishikubo, Aoki Tobimatsu, Izumi Matsuda, Yuhei Uehara, Yumiko Maruo, Hiroyuki Sho, Motohiro Kosugi, Tetsuyuki Yasuda
Publikováno v:
BMC Endocrine Disorders, Vol 23, Iss 1, Pp 1-8 (2023)
Abstract Background Heterozygous loss-of-function mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene cause CHARGE syndrome characterized by various congenital anomalies. A majority of patients with CHARGE syndrome present with c
Externí odkaz:
https://doaj.org/article/f3e9da30d28d41eb9a323d273af3eaf6
Autor:
Tarık Kırkgöz, Semra Gürsoy, Sezer Acar, Özlem Nalbantoğlu, Beyhan Özkaya, Hüseyin Anıl Korkmaz, Filiz Hazan, Behzat Özkan
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 68 (2023)
ABSTRACT Objective: Congenital hypopituitarism (CH) is a rare disease characterized by one or more hormone deficiencies of the pituitary gland. To date, many genes have been associated with CH. In this study, we identified the allelic variant spectru
Externí odkaz:
https://doaj.org/article/f2799dd056dd4cfeaa2ad6a847e0e2b8
Akademický článek
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Autor:
Hironori Bando, Shin Urai, Keitaro Kanie, Yuriko Sasaki, Masaaki Yamamoto, Hidenori Fukuoka, Genzo Iguchi, Sally A. Camper
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
Combined pituitary hormone deficiency (CPHD) is not a rare disorder, with a frequency of approximately 1 case per 4,000 live births. However, in most cases, a genetic diagnosis is not available. Furthermore, the diagnosis is challenging because no cl
Externí odkaz:
https://doaj.org/article/a63348b74b86480c999d597817e42bae
Autor:
Yiyi Zhu, Min Nie, Xi Wang, Qibin Huang, Bingqing Yu, Rui Zhang, Junyi Zhang, Bang Sun, Jiangfeng Mao, Xueyan Wu
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
BackgroundGonadotropins are effective in inducing spermatogenesis in patients with congenital combined pituitary hormone deficiency (CCPHD). Data on recombinant human growth hormone(rhGH) adjuvant treatment to improve gonadotropin-induced spermatogen
Externí odkaz:
https://doaj.org/article/2f992649687849ee83fa21928a57a7e7
Autor:
Fatma Derya Bulut, Semine Özdemir Dilek, Damla Kotan, Eda Mengen, Fatih Gürbüz, Bilgin Yüksel
Publikováno v:
JCRPE, Vol 12, Iss 3, Pp 261-268 (2020)
Objective:Mutations of the genes encoding transcription factors which play important roles in pituitary morphogenesis, differentiation and maturation may lead to combined pituitary hormone deficiency (CPHD). PROP1 gene mutations are reported as the m
Externí odkaz:
https://doaj.org/article/834c2557d203484c97842279ba83d755
Autor:
Ziqin Liu, Xiaobo Chen
Publikováno v:
JCRPE, Vol 12, Iss 2, Pp 212-217 (2020)
Pituitary stalk interruption syndrome (PSIS) is characterized by the association of an absent or thin pituitary stalk, an absent or hypoplastic anterior pituitary lobe and an ectopic posterior pituitary (EPP) lobe. The causes of this anatomical defec
Externí odkaz:
https://doaj.org/article/229b006237b943868949b6db48d7c590
Publikováno v:
Medicina, Vol 59, Iss 3, p 474 (2023)
Background and Objectives: Combined pituitary hormone deficiency (CPHD) is a rare heterogeneous disease. It is characterized by the deficiency of growth hormone (GH) and shortage of at least one or more other hormones of the pituitary gland including
Externí odkaz:
https://doaj.org/article/22af5374c8c64e05aef1ac4f230816df