[PDF][PDF] Update on the genetics of idiopathic hypogonadotropic hypogonadism

AK Topaloğlu - Journal of clinical research in pediatric …, 2017 - jag.journalagent.com
Traditionally, idiopathic hypogonadotropic hypogonadism (IHH) is divided into two major
categories: Kallmann syndrome (KS) and normosmic IHH (nIHH). To date, inactivating …

Advances in clinical applications of kisspeptin-GnRH pathway in female reproduction

KL Hu, Z Chen, X Li, E Cai, H Yang, Y Chen… - Reproductive Biology …, 2022 - Springer
Background Kisspeptin is the leading upstream regulator of pulsatile and surge
Gonadotrophin-Releasing Hormone secretion (GnRH) in the hypothalamus, which acts as …

Discovering genes essential to the hypothalamic regulation of human reproduction using a human disease model: adjusting to life in the “-omics” era

MI Stamou, KH Cox, WF Crowley Jr - Endocrine reviews, 2015 - academic.oup.com
The neuroendocrine regulation of reproduction is an intricate process requiring the exquisite
coordination of an assortment of cellular networks, all converging on the GnRH neurons …

A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism

J Zhu, REY Choa, MH Guo, L Plummer… - The Journal of …, 2015 - academic.oup.com
Context: Delayed puberty (DP) is a common issue and, in the absence of an underlying
condition, is typically self limited. Alhough DP seems to be heritable, no specific genetic …

Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice

H Butz, G Nyírő, PA Kurucz, I Likó, A Patócs - Human Genetics, 2021 - Springer
Congenital hypogonadotropic hypogonadism (CHH) is a clinically and genetically
heterogeneous congenital disease. Symptoms cover a wide spectrum from mild forms to …

Genetics of hypogonadotropic hypogonadism

AK Topaloglu, LD Kotan - Puberty from Bench to Clinic, 2016 - karger.com
Hypogonadotropic hypogonadism (HH) often manifests as pubertal delay. A considerable
proportion of cases of HH is due to genetic mutations. Recognizing those mutated genes …

Gonadotropin-releasing hormone receptor (GnRHR) and hypogonadotropic hypogonadism

P Fanis, V Neocleous, I Papapetrou… - International Journal of …, 2023 - mdpi.com
Human sexual and reproductive development is regulated by the hypothalamic-pituitary-
gonadal (HPG) axis, which is primarily controlled by the gonadotropin-releasing hormone …

[HTML][HTML] Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay

D Beneduzzi, EB Trarbach, L Min, AAL Jorge… - Fertility and sterility, 2014 - Elsevier
Objective To analyze the GNRHR in patients with normosmic isolated hypogonadotropic
hypogonadism (IHH) and constitutional delay of growth and puberty (CDGP). Design …

Review of human genetic and clinical studies directly relevant to GnRH signalling

SB Seminara, AK Topaloglu - Journal of neuroendocrinology, 2022 - Wiley Online Library
GnRH is the pivotal hormone in controlling the hypothalamic‐pituitary gonadal (HPG) axis in
humans and other mammalian species. GnRH function is influenced by a multitude of known …

[HTML][HTML] Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center …

SJ Shin, Y Sul, JH Kim, JH Cho, GH Kim… - Annals of pediatric …, 2015 - ncbi.nlm.nih.gov
Purpose Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is classified as
Kallmann syndrome (KS) with anosmia and normosmic idiopathic hypogonadotropic …