Variety of genetic defects in GnRH and hypothalamic–pituitary signaling and development in normosmic patients with IHH

IntroductionNormosmic isolated hypogonadotropic hypogonadism (nIHH) is a clinically and genetically heterogeneous disorder. Deleterious variants in over 50 genes have been implicated in the etiology of IHH, which also indicates a possible role of digenicity and oligogenicity. Both classes of genes c...

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Detalles Bibliográficos

Principais autores:	Małgorzata Kałużna, Bartłomiej Budny, Michał Rabijewski, Agnieszka Dubiel, Małgorzata Trofimiuk-Müldner, Kosma Szutkowski, Adam Piotrowski, Elżbieta Wrotkowska, Alicja Hubalewska-Dydejczyk, Marek Ruchała, Katarzyna Ziemnicka
Formato:	Artigo
Idioma:	Inglês
Publicado:	Frontiers Media S.A. 2024-07-01
Series:	Frontiers in Endocrinology
Assuntos:	isolated hypogonadotropic hypogonadism oligogenicity next-generation sequencing (NGS) pathogenic/likely pathogenic (P/LP) normosmic
Acceso en liña:	https://www.frontiersin.org/articles/10.3389/fendo.2024.1396805/full
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