Clinical management of congenital hypogonadotropic hypogonadism

J Young, C Xu, GE Papadakis, JS Acierno… - Endocrine …, 2019 - academic.oup.com
The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile
secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism …

Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease

B Cangiano, DS Swee, R Quinton, M Bonomi - Human genetics, 2021 - Springer
A genetic basis of congenital isolated hypogonadotropic hypogonadism (CHH) can be
defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next …

GnRH and GnRH receptors in the pathophysiology of the human female reproductive system

R Maggi, AM Cariboni, MM Marelli… - Human reproduction …, 2016 - academic.oup.com
BACKGROUND Human reproduction depends on an intact hypothalamic–pituitary–gonadal
(HPG) axis. Hypothalamic gonadotrophin-releasing hormone (GnRH) has been recognized …

Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism

MI Stamou, NA Georgopoulos - Metabolism, 2018 - Elsevier
Abstract Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency (IGD) IGD is a
genetically and clinically heterogeneous disorder. Mutations in many different genes are …

[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 …

GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of …

L Maione, AA Dwyer, B Francou… - European Journal of …, 2018 - academic.oup.com
Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare,
related diseases that prevent normal pubertal development and cause infertility in affected …

[HTML][HTML] Human semaphorin 3 variants link melanocortin circuit development and energy balance

AA Van Der Klaauw, S Croizier, EM De Oliveira… - Cell, 2019 - cell.com
Hypothalamic melanocortin neurons play a pivotal role in weight regulation. Here, we
examined the contribution of Semaphorin 3 (SEMA3) signaling to the development of these …

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 …

New horizons: gonadotropin-releasing hormone and cognition

V Prévot, M Tena-Sempere… - The Journal of Clinical …, 2023 - academic.oup.com
Pulsatile secretion of gonadotropin-releasing hormone (GnRH) is essential for activating
and maintaining the function of the hypothalamic–pituitary–gonadal axis, which controls the …

Nasal placode development, GnRH neuronal migration and Kallmann syndrome

HJ Cho, Y Shan, NC Whittington… - Frontiers in Cell and …, 2019 - frontiersin.org
The development of Gonadotropin releasing hormone-1 (GnRH) neurons is important for a
functional reproduction system in vertebrates. Disruption of GnRH results in hypogonadism …