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Article

Kallmann syndrome with a Tyr113His PROKR2 mutation.

Medicine - 1 Sept 2017

Ha Jeong-Ha, Lee Sara, Kim Youngmoon, Moon Ji In, Seo Jongkwon, Jang Ja-Hyun, Cho Eun-Hae, Kim Jung Min, Rhee Byoung Doo, Ko Kyung Soo, Yoo Soo Jin, Won Jong Chul

Abstract excerpt

RATIONAL: Kallmann syndrome (KS) is a genetic gonadotropin-releasing hormone deficiency associated with hyposmia or anosmia and characterized by various modes of inheritance. PATIENT CONCERNS: A 16-year-old male did not reach puberty and was associated with hypogonadotropic hypogonadism and anosmia. His magnetic resonance imaging of brain revealed the absence of the olfactory bulb. DIAGNOSIS: His karyotype was 46...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28858133
DOI: 10.1097/MD.0000000000007974
PMCID: PMC5585527

Genes

PROKR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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