Zobrazeno 1 - 10
of 663
pro vyhledávání: '"congenital hypogonadotropic hypogonadism"'
Publikováno v:
Asian Journal of Andrology, Vol 26, Iss 4, Pp 426-432 (2024)
Fibroblast growth factor receptor 1 (FGFR1) mutations are associated with congenital hypogonadotropic hypogonadism (CHH) through inheritance or spontaneous occurrence. We detected FGFR1 mutations in a Chinese cohort of 210 CHH patients at Peking Unio
Externí odkaz:
https://doaj.org/article/f8e12e0c33064e8ea9f8759bc105d73e
Autor:
Yassine Zouaghi, Anbreen Mazhar Choudhary, Saba Irshad, Michela Adamo, Khaleeq ur Rehman, Ambrin Fatima, Mariam Shahid, Nida Najmi, Fernanda De Azevedo Correa, Imen Habibi, Alexia Boizot, Nicolas J. Niederländer, Muhammad Ansar, Federico Santoni, James Acierno, Nelly Pitteloud
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-9 (2024)
Abstract Background/Objectives This study aims to elucidate the genetic causes of congenital hypogonadotropic hypogonadism (CHH), a rare genetic disorder resulting in GnRH deficiency, in six families from Pakistan. Methods Eighteen DNA samples from s
Externí odkaz:
https://doaj.org/article/ccf74a0fcaad4147bb07e27344df98d0
Autor:
Zhenxing Huang, Xi Wang, Bingqing Yu, Wanlu Ma, Pengyu Zhang, Xueyan Wu, Min Nie, Jiangfeng Mao
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 68 (2024)
ABSTRACT Objective: Both pulsatile gonadotropin-releasing hormone (GnRH) and combined gonadotropin therapy are effective to induce spermatogenesis in men with congenital hypogonadotropic hypogonadism (CHH). This study aimed to evaluate the effect of
Externí odkaz:
https://doaj.org/article/1dea04a78c13484ba78b765f942e57ab
Publikováno v:
Jichu yixue yu linchuang, Vol 43, Iss 5, Pp 733-738 (2023)
Objective To investigate whether multiple gene mutations were existed to cause congenital hypogonadotropic hypogonadism(CHH), by screening genes in CHH patients with FGFR1 mutations. Methods FGFR1 mutations were identified in 15 CHH patients. Other C
Externí odkaz:
https://doaj.org/article/4b125e72c2ed4cccb1fa029dfbfc160e
Publikováno v:
BMC Pregnancy and Childbirth, Vol 23, Iss 1, Pp 1-6 (2023)
Abstract Background Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder resulting from a deficient secretion of the episodic gonadotropin-releasing hormone, leading to delayed or absent puberty and infertility. In female patients with C
Externí odkaz:
https://doaj.org/article/0a1f8611ad724ffa983bb91c315fefd7
Akademický článek
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Autor:
Luca Persani, Martine Cools, Stamatina Ioakim, S Faisal Ahmed, Silvia Andonova, Magdalena Avbelj-Stefanija, Federico Baronio, Jerome Bouligand, Hennie T Bruggenwirth, Justin H Davies, Elfride De Baere, Iveta Dzivite-Krisane, Paula Fernandez-Alvarez, Alexander Gheldof, Claudia Giavoli, Claus H Gravholt, Olaf Hiort, Paul-Martin Holterhus, Anders Juul, Csilla Krausz, Kristina Lagerstedt-Robinson, Ruth McGowan, Uta Neumann, Antonio Novelli, Xavier Peyrassol, Leonidas A Phylactou, Julia Rohayem, Philippe Touraine, Dineke Westra, Valeria Vezzoli, Raffaella Rossetti
Publikováno v:
Endocrine Connections, Vol 11, Iss 22, Pp 1-7 (2022)
Differences of sex development and maturation (SDM) represent a heterogeneous puzzle of rare conditions with a large genetic component whose management and treatment could be improved by an accurate classification of underlying molecular conditions,
Externí odkaz:
https://doaj.org/article/2d8fa80d5d96414aaaa8f97a72aee4ac
Autor:
Darja Šmigoc Schweiger, Maja Davidović Povše, Katarina Trebušak Podkrajšek, Tadej Battelino, Magdalena Avbelj Stefanija
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-5 (2022)
Abstract Background Congenital hypogonadotropic hypogonadism (CHH) is a clinically and genetically heterogeneous disease characterized by absent or incomplete puberty and infertility. Clinical characteristics are secondary to insufficient gonadotropi
Externí odkaz:
https://doaj.org/article/2030c95f490d44acabdfef6a77bc64d0
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 27, Iss 3, Pp 176-182 (2022)
Congenital hypogonadotropic hypogonadism (CHH) is characterized by complete or partial failure of pubertal development because of inadequate secretion of gonadotropic hormones. CHH consists of hypogonadotropic hypogonadism with anosmia or hyposmia, K
Externí odkaz:
https://doaj.org/article/ace7c6b31148468eb66ad963f9e2b0c3
Autor:
Konstantina Chachlaki, Roberto Oleari
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/88c4a1f4ba4b421dbaf0fc1ea5b9515d