Clinical management of congenital hypogonadotropic hypogonadism
The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile
secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next …
Inactivating KISS1 Mutation and Hypogonadotropic Hypogonadism
Gonadotropin-releasing hormone (GnRH) is the central regulator of gonadotropins, which
stimulate gonadal function. Hypothalamic neurons that produce kisspeptin and neurokinin B …
stimulate gonadal function. Hypothalamic neurons that produce kisspeptin and neurokinin B …