Results 1 to 10 of about 28,463 (107)

Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency [PDF]

Human Genome Variation, 2021
We report the first case of classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency. We identified pathogenic variants in the STAR gene: a novel variant of c.126_127delCCinsG, namely, p.Thr44Profs*2 and an already reported
Moritake Higa, Akiko Zaha, Akiko Takushi, Nami Morishima, Toyofumi Majikina, Takeshi Touma, Michio Shimabukuro, Hiroaki Masuzaki, Misa Honda, Tomonobu Hasegawa   +9 more
doaj   +2 more sources

Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency [PDF]

Medicina, 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 ...
Ahmed M. Almatrafi, Ali M. Hibshi, Sulman Basit   +2 more
doaj   +2 more sources

Progression from isolated growth hormone deficiency to a combined pituitary hormone deficiency in a cohort of paediatrics patients with pituitary morphology abnormalities on MRI [PDF]

BMC Endocrine Disorders
Objective To evaluate the baseline and follow-up clinical and radiological characteristics of a paediatric cohort initially diagnosed with isolated congenital growth hormone deficiency (IGHD) and pituitary morphology abnormality in MRI.
Cristina Aguilar-Riera, Diego Yeste, Núria González-Llorens, Eduard Mogas, Ariadna Campos-Martorell, Paula Fernandez-Alvarez, Elida Vázquez, María Clemente   +7 more
doaj   +2 more sources

Whole Exome Sequencing Points towards a Multi-Gene Synergistic Action in the Pathogenesis of Congenital Combined Pituitary Hormone Deficiency [PDF]

Cells, 2022
Combined pituitary hormone deficiency (CPHD) is characterized by deficiency of growth hormone and at least one other pituitary hormone. Pathogenic variants in more than 30 genes expressed during the development of the head, hypothalamus, and/or pituitary
Amalia Sertedaki, Elizabeth Barbara Tatsi, Ioannis Anargyros Vasilakis, Irene Fylaktou, Eirini Nikaina, Nicoletta Iacovidou, Tania Siahanidou, Christina Kanaka-Gantenbein   +7 more
doaj   +2 more sources

Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency [PDF]

JCRPE, 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).
Fatma Derya Bulut, Semine Özdemir Dilek, Damla Kotan, Eda Mengen, Fatih Gürbüz, Bilgin Yüksel   +5 more
doaj   +2 more sources

Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report [PDF]

BMC Endocrine Disorders, 2023
Background Heterozygous loss-of-function mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene cause CHARGE syndrome characterized by various congenital anomalies.
Yoshinari Obata, Kana Takayama, Hideyuki Nishikubo, Aoki Tobimatsu, Izumi Matsuda, Yuhei Uehara, Yumiko Maruo, Hiroyuki Sho, Motohiro Kosugi, Tetsuyuki Yasuda   +9 more
doaj   +2 more sources

Growth Hormone Is Beneficial for Induction of Spermatogenesis in Adult Patients With Congenital Combined Pituitary Hormone Deficiency [PDF]

Frontiers in Endocrinology, 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 spermatogenesis
Yiyi Zhu, Min Nie, Xi Wang, Qibin Huang, Bingqing Yu, Rui Zhang, Junyi Zhang, Bang Sun, Jiangfeng Mao, Xueyan Wu   +9 more
doaj   +2 more sources

Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery [PDF]

Archives of Endocrinology and Metabolism, 2019
The first description of patients with combined pituitary hormone deficiencies (CPHD) caused by PROP1 mutations was made 20 years ago. Here we updated the clinical and genetic characteristics of patients with PROP1 mutations and summarized the phenotypes
Fernanda A. Correa, Marilena Nakaguma, João L. O. Madeira, Mirian Y. Nishi, Milena G. Abrão, Alexander A. L. Jorge, Luciani R. Carvalho, Ivo J. P. Arnhold, Berenice B. Mendonça   +8 more
doaj   +2 more sources

SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD) [PDF]

Frontiers in Endocrinology, 2020
Background: The mutation frequencies of pituitary transcription factors genes in patients with combined pituitary hormone deficiencies (CPHD) vary substantially between populations.
Bartlomiej Budny, Tomasz Zemojtel, Tomasz Zemojtel, Malgorzata Kaluzna, Pawel Gut, Marek Niedziela, Monika Obara-Moszynska, Barbara Rabska-Pietrzak, Katarzyna Karmelita-Katulska, Marek Stajgis, Urszula Ambroziak, Tomasz Bednarczuk, Elzbieta Wrotkowska, Ewelina Bukowska-Olech, Aleksander Jamsheer, Marek Ruchala, Katarzyna Ziemnicka   +16 more
doaj   +2 more sources

Etiology of combined pituitary hormone deficiency: GNAO1 as a novel candidate gene [PDF]

Endocrine Connections
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.
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   +11 more
doaj   +2 more sources