Living with Sudden infant death-dysgenesis of the testes syndrome
A rare condition of infancy affecting the brainstem, with breathing and feeding problems and differences in male reproductive organs.
Understanding Sudden infant death-dysgenesis of the testes syndrome
The brainstem controls basic functions such as heart rate, breathing, eating, and sleeping. Many features come from brainstem problems, including an uneven heart rate, unusual breathing, trouble controlling body temperature, and an exaggerated startle reflex. Babies have feeding difficulties and an unusual cry. Babies who are genetically male have underdeveloped testes and may have genitals that do not look clearly male or female. Genetically female babies have typical reproductive organ development.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow or uneven heart rate
- Unusual breathing patterns
- Trouble controlling body temperature
- Feeding difficulties and reflux
- Unusual cry
- Underdeveloped testes in genetic males
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists, hormone specialists, lung and breathing specialists and urinary and male reproductive system specialists.
- 3Consider genetic testing
Changes in TSPYL1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Lung and breathing specialists (pulmonologists); Urinary and male reproductive system specialists (urologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the TSPYL1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: siddt; sudden infant death with dysgenesis of testes syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
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