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Article

Two females presenting primary amenorrhea diagnosed with Kallmann syndrome caused by novel FGFR1 variants.

The journal of obstetrics and gynaecology research - 1 Oct 2021

Xia Junke, Luo Xiao, Zhang Xinyuan, Kong Xiangdong

Abstract excerpt

Primary amenorrhea as the common symptom has a complicated etiology, and genetic disorders are non-negligible. Kallmann syndrome (KS) is a rare inherited disease characterized by hypogonadotropic hypogonadism and anosmia. KS is uncommon in women and is an unusual cause of primary amenorrhea. Herein, we described the clinical features in two female patients presenting primary amenorrhea without puberty. Magnetic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34342100
DOI: 10.1111/jog.14966

Provenance

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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