Sudden infant death with dysgenesis of the testes syndrome

Overview

Type of disease: Genetic, autosomal recessive | Rare conditions

Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a condition that occurs in newborns and causes problems with their development. This condition has only been found in an Amish community in Pennsylvania. Infants with this syndrome may have feeding problems, slow growth, trouble maintaining a normal body temperature, unusual reflexes, a slow heartbeat, and trouble breathing. Males with this condition also have undescended testicles and may have genitals that are not clearly male or female. Additionally, this condition leads to problems with the development of the brain stem, the part of the brain that controls heart rate, breathing, eating, and sleeping. Infants with this condition have an unusual cry that sounds like a goat, which may be one of the first symptoms

SIDDT is caused by a change (mutation) in the TSPYL1 gene. This condition is inherited (passed through families) in an autosomal recessive manner. Autosomal recessive means that an individual must have two mutations in order to have the condition. A person with only one mutation is called a carrier because they “carry” a mutation but do not have the condition. If both parents are carriers of a mutation, their children have a one in four chance (25%) of having the condition.

This condition can usually be diagnosed soon after birth by a physical exam. There are currently no treatments for SIDDT. Infants with this syndrome usually pass away within a year due to problems with the heart and lungs. Usually, infants’ hearts will stop suddenly or they will suddenly stop breathing. If you or a family member has been diagnosed with SIDDT, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.

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