Hypospadias is one of the most common human birth defects, affecting three out of every 1000 newborn males. During embryonic development, the tubularization of the penile urethra is faulty. This results in the urethral meatus being located on the ventral side of the penis in a variable midline position between the scrotum and the tip of the penis. Although hypospadias can be explained in some patients by abnormal androgen stimulation or abnormal androgen metabolism, the cause of hypospadias for the majority of patients is unknown. Currently, surgery is the only mode of therapy to correct hypospadias.
The broad, long-term objectives of this project are to assess the role of several cell guidance molecules in urethral development and in the formation of male hypospadias. Preliminary work with knock-out mice created to study these molecules has revealed hypospadias. This suggests that these guidance molecules are important in normal penis development.
This National Institutes of Health-funded project (R01) will apply numerous molecular biological techniques using drug-induced and knock-out mouse models. In addition, humans affected by hypospadias will be screened for DNA mutations in the genes of interest. This collaborative multi-disciplinary project will contribute to the understanding of a common birth defect, thereby helping many affected children.
Return to Basic Science Research in Pediatric Urology
Role of Insulin-3 as the Cause of the Undescended Testicle
Genetics of Calcium Oxalate Stone Disease
Research Interests
Principal Investigator:
Linda Baker, M.D.: 214-648-3865
Linda.Baker@utsouthwestern.edu
For more information about the Department of Urology, contact:
Phone: 214-648-4765, FAX: 214-648-4789
Mailing Address: 5323 Harry Hines Blvd., J8.148, Dallas, TX 75390-9110