Results 21 to 30 of about 41,302 (312)

Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective

open access: yesEuropean Journal of Human Genetics, 2022
Congenital hypogonadotropic hypogonadism (CHH) is a rare endocrine disorder that results in reproductive hormone deficiency and reduced potential for fertility in adult life.
Yasmin Al Sayed, S. Howard
semanticscholar   +1 more source

A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia

open access: yesmedRxiv, 2021
PRDM13 (PR Domain containing 13) is a putative chromatin modifier and transcriptional regulator that functions downstream of the transcription factor PTF1A, which in turn controls GABAergic fate in the spinal cord and neuronal development in the ...
D. Whittaker   +20 more
semanticscholar   +1 more source

Compromised Volumetric Bone Density and Microarchitecture in men with Congenital Hypogonadotropic Hypogonadism.

open access: yesJournal of Clinical Endocrinology and Metabolism, 2021
CONTEXT Men with Congenital Hypogonadotropic Hypogonadism (CHH) and Kallmann syndrome (KS) have both low circulating testosterone and estradiol levels. Whether bone structure is affected remains unknown.
A. Ostertag   +9 more
semanticscholar   +1 more source

Reduced Quality of Life and Sexual Satisfaction in Isolated Hypogonadotropic Hypogonadism

open access: yesJournal of Clinical Medicine, 2021
(1) Background: Isolated hypogonadotropic hypogonadism (IHH) is a genetic condition characterized by impaired puberty and fertility. IHH can significantly impact patient health-related quality of life (HRQoL), sexual satisfaction (SS) and mood.
M. Kałużna   +6 more
semanticscholar   +1 more source

Genetic Etiology of Idiopathic Hypogonadotropic Hypogonadism

open access: yesEndocrines, 2021
Idiopathic hypogonadotropic hypogonadism (IHH) is a group of rare developmental disorders characterized by low gonadotropin levels in the face of low sex steroid hormone concentrations.
A. Topaloğlu, Ihsan Turan
semanticscholar   +1 more source

A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome

open access: yesBMC Medical Genomics, 2023
Background Gordon Holmes syndrome (GHS) is a rare autosomal recessive disorder characterized by hypogonadotropic hypogonadism, cognitive decline, and cerebellar ataxia.
Nazlı Durmaz Çelik   +6 more
doaj   +1 more source

Novas perspectivas no diagnóstico do hipogonadismo pediátrico masculino: a importância do AMH como marcador de células de Sertoli [PDF]

open access: yes, 2011
Sertoli cells are the most active cell population in the testis during infancy and childhood. In these periods of life, hypogonadism can only be evidenced without stimulation tests, if Sertoli cell function is assessed.
Grinspon, Romina, Rey, Rodolfo Alberto
core   +2 more sources

Syndrome of hypogonadism in males

open access: yesОжирение и метаболизм, 2014
Hypogonadism in men - a clinical and laboratory syndrome caused by decreased secretion of testosterone by the testes. Depending on the level of destruction of the hypothalamic-pituitary-gonadal axis we distinguish two main forms of hypogonadism ...

doaj   +1 more source

Congenital Hypogonadotropic Hypogonadism [PDF]

open access: yesDefinitions, 2020
Congenital hypogonadotropic hypogonadism is defined by reduced steroid hormone synthesis and secretion due to low LH and FSH secretion. It is a rare disease with an unknown prevalence (about 1/5000).
C. Roze, P. Touraine, J. Léger, N. Roux
semanticscholar   +4 more sources

A small population of hypothalamic neurons govern fertility: the critical role of VAX1 in GnRH neuron development and fertility maintenance. [PDF]

open access: yes, 2016
Fertility depends on the correct maturation and function of approximately 800 gonadotropin-releasing hormone (GnRH) neurons in the brain. GnRH neurons are at the apex of the hypothalamic-pituitary-gonadal axis that regulates fertility. In adulthood, GnRH
Hoffmann, Hanne M, Mellon, Pamela L
core   +7 more sources

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