Sudden infant death with dysgenesis of the testes syndrome

Other Names: SIDDT ; Sudden infant death - dysgenesis of the testes; Sudden infant death-dysgenesis of the testes syndrome

Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare condition that is fatal in the first year of life; its major features include abnormalities of the reproductive system in males, feeding difficulties, and breathing problems.

Infants with SIDDT who are genetically male, with one X chromosome and one Y chromosome in each cell, have underdeveloped or abnormal testes. They may also have external genitalia that appear female or that do not look clearly male or clearly female (ambiguous genitalia). In affected infants who are genetically female, with two X chromosomes in each cell, development of the internal and external reproductive organs is normal.

Epidemiology

SIDDT has been diagnosed in more than 20 infants from a single Old Order Amish community in Pennsylvania. The condition has not been reported outside this community.

Cause

A single mutation in the TSPYL1 gene has caused all identified cases of SIDDT. This gene provides instructions for making a protein called TSPY-like 1, whose function is unknown. Based on its role in SIDDT, researchers propose that TSPY-like 1 is involved in the development of the male reproductive system and the brain.

The TSPYL1 gene mutation that causes SIDDT eliminates the function of TSPY-like 1. The loss of this protein's function appears to cause the major features of the disorder by disrupting the normal development of the male reproductive system and the brain, particularly the brainstem.

Research findings suggest that mutations in the TSPYL1 gene are not associated with sudden infant death syndrome (SIDS) in the general population. SIDS is a major cause of death in children younger than 1 year.

Inheritance

Autosomal recessive inheritance, a 25% chance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Signs and symptoms

SIDDT is associated with abnormal development of the brain, particularly the brainstem, which is the part of the brain that is connected to the spinal cord. The brainstem regulates many basic body functions, including heart rate, breathing, eating, and sleeping. It also relays information about movement and the senses between the brain and the rest of the body.

Many features of SIDDT appear to be related to brainstem malfunction, including a slow or uneven heart rate, abnormal breathing patterns, difficulty controlling body temperature, unusual tongue and eye movements, an exaggerated startle reflex to sudden lights or loud noises, and feeding difficulties. Affected infants also have an unusual cry that has been described as similar to the bleating of a goat, which is probably a result of abnormal nerve connections between the brain and the voicebox (larynx).

The brainstem abnormalities lead to death in the first year of life, when affected infants suddenly stop breathing or their heart stops beating (cardiorespiratory arrest).

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Abnormal autonomic nervous system physiology
• Ambiguous genitalia(Ambiguous external genitalia)
• Cardiac arrest(Heart stops beating)
• Cryptorchidism(Undescended testes)
• Death in infancy(Infantile death)
• Gastroesophageal reflux(Acid reflux)
• Hypoplasia of penis(Underdeveloped penis)
• Hypothermia(Abnormally low body temperature)
• Scrotal hypoplasia(Smaller than typical growth of scrotum)
• Sleep apnea(Pauses in breathing while sleeping)

30%-79% of people have these symptoms

• Abnormality of the voice(Voice abnormality)
• Growth delay(Delayed growth)
• Hyporeflexia(Decreased reflex response)
• Myoclonus
• Ophthalmoplegia(Eye muscle paralysis)

NIH genetic and rare disease info

• NIH info on Sudden infant death with dysgenesis of the testes syndrome

Sudden infant death with dysgenesis of the testes syndrome is a rare disease.

Sudden infant death with dysgenesis of the testes syndrome Resources
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