sudden infant death with dysgenesis of the testes syndrome

An 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.
Clinical findings
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.
Molecular pathology
Defects of TSPYL1 cause sudden infant death with dysgenesis of the testes syndrome.

单词	sudden infant death with dysgenesis of the testes syndrome
释义	sudden infant death with dysgenesis of the testes syndrome sudden infant death with dysgenesis of the testes syndrome An 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. Clinical findings 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. Molecular pathology Defects of TSPYL1 cause sudden infant death with dysgenesis of the testes syndrome. AcronymsSeeSIDDT
随便看	master of environmental and energy management master of environmental design master of environmental engineering master of environmental horticulture master of environmental management master of environmental planning master of environmental planning & design master of environmental policy and management master of environmental science master of environmental science and management master of environmental studies master of environmental toxicology master of ergonomics master of european administrative management master of european regulation of network industries master of european studies master of family and human development master office network adaptive real-time control master of film and digital image master of finance master of finance and economics léman republic lémery, nicolas l'éminence grise l'éminence rouge