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Article

Congenital hypogonadotropic hypogonadism in a patient with a de novo POGZ mutation.

European journal of endocrinology - 2 Aug 2023

Eskici Nazli, Madhusudan Shrinidhi, Vaaralahti Kirsi, Yellapragada Venkatram, Gomez-Sanchez Celia, Kärkinen Juho, Almusa Henrikki, Brandstack Nina, Miettinen Päivi J, Wang Yafei, Raivio Taneli

Abstract excerpt

OBJECTIVE: Congenital hypogonadotropic hypogonadism (CHH) is a rare, genetically heterogeneous reproductive disorder caused by gonadotropin-releasing hormone (GnRH) deficiency. Approximately half of CHH patients also have decreased or absent sense of smell, that is, Kallmann syndrome (KS). We describe a patient with White-Sutton syndrome (developmental delay and autism spectrum disorder) and KS due to a...

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Identifiers

PMID: 37619992
DOI: 10.1093/ejendo/lvad111

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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