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Article

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

Frontiers in endocrinology - 1 Jan 2024

Kałużna Małgorzata, Budny Bartłomiej, Rabijewski Michał, Dubiel Agnieszka, Trofimiuk-Müldner Małgorzata, Szutkowski Kosma, Piotrowski Adam, Wrotkowska Elżbieta, Hubalewska-Dydejczyk Alicja, Ruchała Marek, Ziemnicka Katarzyna

Abstract excerpt

Introduction: Normosmic 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 controlling GnRH neuron migration/development and hypothalamic/pituitary signaling and development are strongly...

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Identifiers

PMID: 39010903
DOI: 10.3389/fendo.2024.1396805
PMCID: PMC11246878

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