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Familial hypospadias

Orpha number ORPHA440
Synonym(s) -
Prevalence Unknown
Inheritance Autosomal dominant
Autosomal recessive
X-linked recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q54.0
  • Q54.1
  • Q54.2
  • Q54.3
  • Q54.4
  • Q54.8
  • Q54.9
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce. This congenital malformation is not rare, with an estimated prevalence of 1/1000 births but familial forms account for only 10% of cases. Hypospadias is clinically more or less severe depending on the location of the urether opening. The type of hypospadias is defined according to the origin of the spongious divergence. Hypospadias is said to be posterior when the spongious body diverges from the central root of the penis, it is middle or anterior if the divergence is located on the ventral side of the penis. Among familial forms, all types of hypospadias have the same semiological value, indeed a minor form observed in a father can result in more severe forms in his male progeny. Hypospadias is due to defective development of the spongious body of the urether, which stays divergent. This spongious body develops under the genital folds between the 8th and 12th week of embryonic development. Several causes of hypospadias have been suggested. Endocrine aetiology of foetal or maternal origin (especially in cases of medically assisted procreation) has been described. Some hypospadias have been linked to a toxic origin (pesticides). Familial forms are identified by determining the medical history of the family. Surgical repair of hypospadias relies on numerous techniques, aimed at restoring the missing portion of urether. The simplest approach consists of a recently developed technique involving spongious body repair (spongioplasty). This surgery can be proposed in the first few months of life.

Expert reviewer(s)

  • Pr Frédéric BARGY

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