Male infertility associated with hereditary leiomyomatosis and renal cell carcinoma.
OBJECTIVE
To report a novel association between a cancer predisposition syndrome (hereditary leiomyomatosis and renal cell carcinoma [HLRCC]) and male infertility.


METHODS
Case report.


METHODS
University medical center adult genetics clinic.


METHODS
A 31-year-old male of Chinese ancestry referred for evaluation of immotile sperm.


METHODS
Physical examination, family history assessment, genetic testing, and cancer screening.


METHODS
Genetic testing results.


RESULTS
Physical exam: cutaneous leiomyomata on the upper back and left arm. Family history: the patient has a sister with uterine leiomyomata. Genetic testing revealed a mutation in the fumarate hydratase gene, which codes for an enzyme (fumarase) that has previously been implicated in sperm number and motility. More recently, heterozygous mutations in this gene have been associated with HLRCC. However, male infertility is not a recognized manifestation of this condition.


CONCLUSIONS
A comprehensive medical (including family) history and physical examination are important when evaluating male infertility. Genetics consultation enabled our patient and his family to begin appropriate cancer screening and provided reproductive options, including prenatal/preimplantation diagnosis. Further studies of the relationship between fumarase, HLRCC, and male infertility are needed to provide accurate counseling to families and to better understand genotype-phenotype correlations.
McKelvey
Kent D
KD
University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA. mckelvey@uams.edu
Siraj
Seema
S
Kelsay
Jill
J
Batres
Francisco
F
D000328:Adult; D002292:Carcinoma, Renal Cell / Q000150:complications*; D004198:Disease Susceptibility / Q000209:etiology; D006801:Humans; D007248:Infertility, Male / Q000209:etiology*; D007680:Kidney Neoplasms / Q000150:complications*; D018231:Leiomyomatosis / Q000150:complications*; D008297:Male; D009386:Neoplastic Syndromes, Hereditary / Q000150:complications*