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 …

The fibroblast growth factor signaling pathway

DM Ornitz, N Itoh - Wiley Interdisciplinary Reviews …, 2015 - Wiley Online Library
The signaling component of the mammalian Fibroblast Growth Factor (FGF) family is
comprised of eighteen secreted proteins that interact with four signaling tyrosine kinase FGF …

α-Klotho is a non-enzymatic molecular scaffold for FGF23 hormone signalling

G Chen, Y Liu, R Goetz, L Fu, S Jayaraman, MC Hu… - Nature, 2018 - nature.com
The ageing suppressor α-klotho binds to the fibroblast growth factor receptor (FGFR). This
commits FGFR to respond to FGF23, a key hormone in the regulation of mineral ion and …

[HTML][HTML] European consensus statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

U Boehm, PM Bouloux, MT Dattani… - Nature Reviews …, 2015 - nature.com
Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by the
deficient production, secretion or action of gonadotropin-releasing hormone (GnRH), which …

Control of puberty onset and fertility by gonadotropin-releasing hormone neurons

AE Herbison - Nature reviews endocrinology, 2016 - nature.com
The gonadotropin-releasing hormone (GnRH) neuronal network generates pulse and surge
modes of gonadotropin secretion critical for puberty and fertility. The arcuate nucleus …

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

Novel concepts in the aetiology of male reproductive impairment

H Tournaye, C Krausz, RD Oates - The lancet Diabetes & …, 2017 - thelancet.com
Infertility is a widespread problem and a male contribution is involved in 20–70% of affected
couples. As a man's fertility relies on the quantity and quality of his sperm, semen analysis is …

Genetics of male infertility

C Krausz, V Rosta, RS Swerdloff, C Wang - Emery and rimoin's principles …, 2022 - Elsevier
Approximately 7% of men suffer from fertility problems, the etiology of which are ascribable
to a number of factors acting at pretesticular, posttesticular, or testicular levels. About 20% of …

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 …

Inactivating KISS1 Mutation and Hypogonadotropic Hypogonadism

AK Topaloglu, JA Tello, LD Kotan… - … England Journal of …, 2012 - Mass Medical Soc
Gonadotropin-releasing hormone (GnRH) is the central regulator of gonadotropins, which
stimulate gonadal function. Hypothalamic neurons that produce kisspeptin and neurokinin B …