Living with X-linked central congenital hypothyroidism with late-onset testicular enlargement
A rare genetic condition with an underactive thyroid from birth, delayed puberty, and larger testes in adulthood.
Understanding X-linked central congenital hypothyroidism with late-onset testicular enlargement
It causes central hypothyroidism, meaning the thyroid is underactive because of a signal problem from the brain. Testes enlarge during the teen years, leading to large testes in adults. Testosterone rises late in puberty, with a delayed growth spurt. The thyroid gland is small, and prolactin and growth hormone can be low.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underactive thyroid (hypothyroidism)
- Larger testes in adulthood
- Delayed rise in testosterone in puberty
- Delayed pubertal growth spurt
- Low prolactin
- Overweight
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 and hormone specialists.
- 3Consider genetic testing
Changes in IGSF1 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)
- 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
This condition is caused by changes in the IGSF1 gene and follows X-linked inheritance.
Also known as: central hypothyroidism and testicular enlargement; chte; hypothyroidism central and testicular enlargement; hypothyroidism, central, and testicular enlargement; hypothyroidism, central, and testicular enlargement, x-linked recessive; hypothyroidism, central, with testicular enlargement
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
You are more than your diagnosis
Perspectives from people navigating life with X-linked central congenital hypothyroidism with late-onset testicular enlargement.
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