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Article

Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations.

The Journal of clinical endocrinology and metabolism - 1 Aug 2006

Carvajal-Carmona Luis G, Alam N Afrina, Pollard Patrick J, Jones Angela M, Barclay Ella, Wortham Noel, Pignatelli Massimo, Freeman Alex, Pomplun Sabine, Ellis Ian, Poulsom Richard, El-Bahrawy Mona A, Berney Daniel M, Tomlinson Ian P M

Abstract excerpt

CONTEXT: Leydig cell tumors (LCTs) are the most common non-germ-cell neoplasms of the testis. LCTs are often hormonally active and can result in precocious virilization or in adult feminization. We identified an LCT in an affected individual from a kindred with hereditary leiomyomatosis and renal cell cancer (HLRCC) and a germline fumarate hydratase (FH) mutation (N64T). OBJECTIVE: Our objective was to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16757530
DOI: 10.1210/jc.2006-0183

Genes

LCT
GNAS
LHCGR

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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