Sudden infant death with dysgenesis of the testes syndrome

Sudden infant death with dysgenesis of the testes syndrome is a very rare hereditary disorder which is characterized by sudden, deadly cardiorespiratory arrest and testes dysgenesis. This condition is most common among the Old Order Amish in Pennsylvania.

Sudden infant death with dysgenesis of the testes syndrome
Specialty	Medical genetics
Symptoms	Sudden cardiorespiratory arrest leading to death and testes dysplasia
Complications	Death
Usual onset	Early infancy
Duration	Rest of the infant's short lifespan
Causes	Genetic mutation
Differential diagnosis	Sudden infant death syndrome
Prevention	None
Prognosis	Bad, infants with the disorder usually die before the age of 1.
Frequency	very rare, only 22 cases have been described in medical literature.
Deaths	22

Signs and symptoms

Biologically male infants with the disorder are often born with abnormally developed testes. Usually, the genitalia appears female or doesn't look either male or female. This isn't the case for biologically female infants, since they have normal reproductive organ development. Infants with this disorder also have an abnormally developed brainstem, which controls basic body functions. This often results in additional symptoms, including slow heart rate, breathing anomalies, irregular body temperature regulation, tongue and eye movement abnormalities, exaggerated startle reflex, and feeding difficulties, these symptoms usually lead to the early death characteristic of this disorder, which is often caused by cardio-respiratory arrest. An additional symptom not associated with the brainstem is the presence of an unusual cry which is unnervingly similar to the cry of a goat.

Additional symptoms include severe gastroesophageal reflux and bronchial and laryngeal spasms.

Causes

This condition is caused by autosomal recessive loss-of-function mutations in the TSPYL1 gene, in chromosome 6.

Epidemiology

Only 22 cases have been described in medical literature, 21 of them came from 9 sibships in the Old Order Amish community in Lancaster County, Pennsylvania. Only 1 of the 22 came from a non-Amish individual; a female infant with presumably consanguineous parents.