sudden infant death with dysgenesis of the testes syndrome (SIDDT)
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Pathology
- genotypic males with SIDDT have fetal testicular dysgenesis & ambiguous genitalia -intraabdominal testes, dysplastic testes, deficient fetal t testosterone production, fusion & rugation of gonadal sac, partial development of penile shaft
- female sexual development is normal
Genetics
- autosomal recessive disorder
- associated with defects in TSPYL1 gene
Clinical manifestations
- affected infants appear normal at birth
- signs of visceroautonomic dysfunction early in life
- die before 12 months of age of abrupt cardiopulmonary arrest
- bradycardia
- hypothermia
- severe gastroesophageal reflux
- laryngospasm
- bronchospasm
- abnormal cardiorespiratory patterns during sleep
- unusual staccato cry, similar to the cry of a goat