sudden infant death with dysgenesis of the testes syndrome(redirected from SIDDT)
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sudden infant death with dysgenesis of the testes syndromeAn autosomal recessive disorder (OMIM:608800) in which affected infants appear normal at birth, develop signs of visceroautonomic dysfunction early in life, and die of cardiorespiratory arrest by age one.
Bradycardia, hypothermia, severe gastroesophageal reflux, laryngo- and bronchospasm, and abnormal cardiorespiratory patterns during sleep. Genotypic males with SIDDT have foetal testicular dysgenesis and ambiguous genitalia, intra-abdominal testes, dysplastic testes, deficient foetal testosterone production, fusion and folding of the gonadal sac, and partial development of the penile shaft; female sexual development is normal. Affected infants have an unusual staccato cry, similar to the cry of a goat.
Defects of TSPYL1 cause sudden infant death with dysgenesis of the testes syndrome.
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