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.


METHODS
Case report and discussion.


METHODS
An academic tertiary care hospital.


METHODS
A 32-year-old man with failed multiple hypospadias repair.


METHODS
Clinical, hormonal, cytogenetic evaluation, fluorescent in situ hybridization (FISH), and ultrasonography.


METHODS
Serum gonadotropin and testosterone levels, and karyotype showing structural abnormality of long arm of chromosome 1.


RESULTS
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.


CONCLUSIONS
Chromosome 1 may harbor a critical domain that is essential for male fertility.
Paliwal
Preeti
P
Laboratory of Cyto-Molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India.
Sharma
Arundhati
A
Sahoo
Jayaprakash
J
Ammini
Ariachery Chinamma
AC
D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D006801:Humans; D007021:Hypospadias / Q000235:genetics* / Q000601:surgery; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D017211:Treatment Failure