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Article

Reversible Kallmann syndrome: report of the first case with a KAL1 mutation and literature review.

European journal of endocrinology - 1 Mar 2007

Ribeiro Rogerio Silicani, Vieira Teresa Cristina, Abucham Julio

Abstract excerpt

Kallmann syndrome (KS) describes the association of isolated hypogonadotropic hypogonadism with hypo/anosmia. A few KS patients may reverse hypogonadism after testosterone withdrawal, a variant known as reversible KS. Herein, we describe the first mutation in KAL1 in a patient with reversible KS and review the literature. The proband was first seen at 22 years complaining of anosmia and lack of puberty. His...

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Source

Identifiers

PMID: 17322486
DOI: 10.1530/eje.1.02342

Genes

FGFR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Reversible Kallmann syndrome: report of the first case with a KAL1 mutation and literature review.PMID 17322486Read ↗

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