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Article

Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations.

PloS one - 1 Jan 2012

Laitinen Eeva-Maria, Tommiska Johanna, Sane Timo, Vaaralahti Kirsi, Toppari Jorma, Raivio Taneli

Abstract excerpt

BACKGROUND: Congenital hypogonadotropic hypogonadism (HH) is a rare cause for delayed or absent puberty. These patients may recover from HH spontaneously in adulthood. To date, it is not possible to predict who will undergo HH reversal later in life. Herein we investigated whether Finnish patient...

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Source

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Identifiers

PMID: 22724017
DOI: 10.1371/journal.pone.0039450
PMCID: PMC3378565

Genes

GNRHR
CHD7
FGFR1
FGF8
GNRH1
KISS1
PROK2
PROKR2
TAC3
TACR3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22724017-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations.PMID 22724017Read ↗

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