An unusual association of hypospadias with partial deletion of chromosome 1q.

OBJECTIVE

To report an unusual finding of chromosome 1q deletion in a man with failed multiple hypospadias repair.

DESIGN

Case report and discussion.

SETTING

An academic tertiary care hospital.

PATIENT(S): A 32-year-old man with failed multiple hypospadias repair.

INTERVENTION(S): Clinical, hormonal, cytogenetic evaluation, fluorescent in situ hybridization (FISH), and ultrasonography.

MAIN OUTCOME MEASURE(S): Serum gonadotropin and testosterone levels, and karyotype showing structural abnormality of long arm of chromosome 1.

RESULT(S): Ultrasonography showed the absence of the left testis and a hypoechoic right testis. Serum luteinizing hormone and follicular stimulating hormone levels were raised, but testosterone and prolactin levels were within the normal range for adult men. Karyotype analysis revealed an interstitial deletion of the long arm of chromosome 1, which was confirmed by FISH.

CONCLUSION(S): Chromosome 1 may harbor a critical domain that is essential for male fertility.