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 …
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 …
NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice
K Chachlaki, A Messina, V Delli, V Leysen… - Science translational …, 2022 - science.org
The nitric oxide (NO) signaling pathway in hypothalamic neurons plays a key role in the
regulation of the secretion of gonadotropin-releasing hormone (GnRH), which is crucial for …
regulation of the secretion of gonadotropin-releasing hormone (GnRH), which is crucial for …
Molecular basis of normal and pathological puberty: from basic mechanisms to clinical implications
Puberty is a major maturational event; its mechanisms and timing are driven by genetic
determinants, but also controlled by endogenous and environmental cues. Substantial …
determinants, but also controlled by endogenous and environmental cues. Substantial …
Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives
It is estimated that one in 100 men have azoospermia, the complete lack of sperm in the
ejaculate. Currently,~ 20% of azoospermia cases remain idiopathic. Non-obstructive …
ejaculate. Currently,~ 20% of azoospermia cases remain idiopathic. Non-obstructive …
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 …
puberty, a common presentation to the pediatric endocrinologist, which may present both …
[HTML][HTML] Human semaphorin 3 variants link melanocortin circuit development and energy balance
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 …
examined the contribution of Semaphorin 3 (SEMA3) signaling to the development of these …
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism
Context Congenital hypogonadotropic hypogonadism (CHH) is a rare condition caused by
GnRH deficiency. Several genes have been associated with the pathogenesis of CHH, but …
GnRH deficiency. Several genes have been associated with the pathogenesis of CHH, but …
Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism (CHH) is a condition characterized by absent
puberty and infertility due to gonadotropin releasing hormone (GnRH) deficiency, which is …
puberty and infertility due to gonadotropin releasing hormone (GnRH) deficiency, which is …
Mini-puberty, physiological and disordered: Consequences, and potential for therapeutic replacement
J Rohayem, EC Alexander, S Heger… - Endocrine …, 2024 - academic.oup.com
There are 3 physiological waves of central hypothalamic-pituitary-gonadal (HPG) axis
activity over the lifetime. The first occurs during fetal life, the second—termed “mini-puberty” …
activity over the lifetime. The first occurs during fetal life, the second—termed “mini-puberty” …