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XX male syndrome; de la Chapelle syndrome

Epidemiology: - rare Genetics: - caused by unequal crossing over between X & Y chromosomes during meiosis in the father, resulting in the X chromosome containing the normally-male SRY gene Clinical manifestations: - small testes - patients are invariably sterile - facial hair growth is usually poor - libido is diminished - feminine characteristics variable - varying degrees of gynecomastia - no intra-abdominal Mullerian tissue Complications: - cryptorchidism - hypospadias [2] - ambiguous genitalia [2] - short stature [2] Management: - testosterone generally needed at puberty for full development of male characteristics

Related

Klinefelter's syndrome

General

genetic syndrome (multisystem disorder)

References

  1. Wikipedia: XX male syndrome http://en.wikipedia.org/wiki/XX_male_syndrome
  2. Genetics Home Reference 46,XX testicular disorder of sex development. http://ghr.nlm.nih.gov/condition/46xx-testicular-disorder-of-sex-development