Familial hypospadias

Symptoms

What are the main signs and symptoms of familial hypospadias?

The hallmark symptom of hypospadias is an abnormal opening of the urethra (the tube that carries urine from the bladder to the outside of the body) located on the underside of the penis. It is usually noticed during the initial newborn physical examination.

References
  • http://www.cdc.gov/ncbddd/birthdefects/hypospadias.html
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Is familial hypospadias associated with any genetic syndromes or other conditions?

Are there other problems that can occur with hypospadias?

Is familial hypospadias associated with any genetic syndromes or other conditions?

Hypospadias is usually an isolated birth defect, meaning it is the only medical issue a person has. However, hypospadias can also be "syndromic", meaning a person with hypospadias also has other medical issues and/or birth defects. Hypospadias can be seen in over 100 different genetic syndromes, caused by changes in different genes. It is estimated that 15% of infants with hypospadias have other defects, or the syndromic form of hypospadias.

References
  • http://omim.org/entry/300633?search=familial%20hypospadias&highlight=hypospadia%20familial
  • http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017217/
  • Stoll, C., Alembik, Y., Roth, M. P., Dott, B. Genetic and environmental factors in hypospadias. J. Med. Genet. 27: 559-563, 1990.
Are there other problems that can occur with hypospadias?

In some cases, boys with hypospadias can also have a curved penis (chordee). Others may have undescended testicles (cryptorchidism). Some individuals may have problems with abnormal spraying of urine and may have to sit to urinate, and may have difficulties performing sexual intercourse if the hypospadias is not treated.

References
  • http://www.cdc.gov/ncbddd/birthdefects/hypospadias.html

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