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Article

Genetics of congenital hypogonadotropic hypogonadism in Denmark.

European journal of medical genetics - 1 Jul 2014

Tommiska Johanna, Känsäkoski Johanna, Christiansen Peter, Jørgensen Niels, Lawaetz Jacob Gerner, Juul Anders, Raivio Taneli

Abstract excerpt

Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder characterized by incomplete/absent puberty caused by deficiency or defective action of gonadotropin-releasing hormone (GnRH). The phenotypic features of patients with CHH vary from genital hypoplasia and absent puberty to reversal of HH later in life. We examined the genetics and clinical features of CHH in Denmark. Forty-one male patients were...

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Source

Identifiers

PMID: 24732674
DOI: 10.1016/j.ejmg.2014.04.002

Genes

CHD7
FGFR1
GNRHR
FGF8
PROK2
PROKR2
TAC3
TACR3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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