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 …

[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 …

Anosmia—a clinical review

S Boesveldt, EM Postma, D Boak… - Chemical …, 2017 - academic.oup.com
Anosmia and hyposmia, the inability or decreased ability to smell, is estimated to afflict 3–
20% of the population. Risk of olfactory dysfunction increases with old age and may also …

The hypothalamus-pituitary-gonad axis: tales of mice and men

A Kaprara, IT Huhtaniemi - Metabolism, 2018 - Elsevier
Reproduction is controlled by the hypothalamic-pituitary-gonadal (HPG) axis. Gonadotropin-
releasing hormone (GnRH) neurons play a central role in this axis through production 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 …

The GPR54 Gene as a Regulator of Puberty

SB Seminara, S Messager, EE Chatzidaki… - … England Journal of …, 2003 - Mass Medical Soc
Background Puberty, a complex biologic process involving sexual development, accelerated
linear growth, and adrenal maturation, is initiated when gonadotropin-releasing hormone …

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 …

Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54

N De Roux, E Genin, JC Carel… - Proceedings of the …, 2003 - National Acad Sciences
Hypogonadotropic hypogonadism is defined as a deficiency of the pituitary secretion of
follicle-stimulating hormone and luteinizing hormone, which results in the impairment of …

The molecular biology of axon guidance

M Tessier-Lavigne, CS Goodman - Science, 1996 - science.org
Neuronal growth cones navigate over long distances along specific pathways to find their
correct targets. The mechanisms and molecules that direct this pathfinding are the topics of …

Cellular signaling by fibroblast growth factor receptors

VP Eswarakumar, I Lax, J Schlessinger - Cytokine & growth factor reviews, 2005 - Elsevier
The 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their
cellular responses by binding to and activating the different isoforms encoded by the four …