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 …

Paediatric and adult-onset male hypogonadism

A Salonia, G Rastrelli, G Hackett… - Nature reviews Disease …, 2019 - nature.com
The hypothalamic–pituitary–gonadal axis is of relevance in many processes related to the
development, maturation and ageing of the male. Through this axis, a cascade 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 …

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 …

Delayed puberty—phenotypic diversity, molecular genetic mechanisms, and recent discoveries

SR Howard, L Dunkel - Endocrine reviews, 2019 - academic.oup.com
This review presents a comprehensive discussion of the clinical condition of delayed
puberty, a common presentation to the pediatric endocrinologist, which may present both …

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

D Cassatella, SR Howard, JS Acierno… - European journal of …, 2018 - academic.oup.com
Objective Congenital hypogonadotropic hypogonadism (CHH) and constitutional delay of
growth and puberty (CDGP) represent rare and common forms of GnRH deficiency …

Disorders of puberty

C Sultan, L Gaspari, L Maimoun, N Kalfa… - Best Practice & Research …, 2018 - Elsevier
Over the past 20 years, a clear secular trend toward the earlier onset of puberty has been
described. A better knowledge should help clinicians attempting to define both precocious …

New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism

LGL Amato, LR Montenegro, AM Lerario… - European journal of …, 2019 - academic.oup.com
Context Congenital hypogonadotropic hypogonadism (CHH) is a rare condition caused by
GnRH deficiency. Several genes have been associated with the pathogenesis of CHH, but …