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[A familial case with generalized resistance to thyroid hormones]
C Raynaud-Ravni1, O Richard, F Freycon
1Service de pédiatrie, hôpital Nord, CHRU, Saint-Etienne, France.
Summary
Generalized resistance to thyroid hormones (GRTH) is an inherited condition. Early diagnosis of GRTH in children is crucial for monitoring growth and neurodevelopment.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Generalized resistance to thyroid hormones (GRTH) is a rare genetic disorder.
- It is characterized by decreased target tissue response to thyroid hormones.
- The prevalence of GRTH may be underestimated.
Observation:
- A 13-year-old girl with short stature presented with elevated triiodothyronine (IT3) and thyroxine (IT4) levels and normal thyroid-stimulating hormone (TSH).
- She was also diagnosed with mosaic Turner syndrome.
- A family history revealed autosomal dominant inheritance of GRTH across five generations, with early diagnosis facilitated by neonatal screening.
Findings:
- Familial generalized resistance to thyroid hormones exhibits variable clinical manifestations.
- Biological confirmation of GRTH is straightforward.
- Molecular biology tests confirmed the diagnosis in affected family members.
Implications:
- Early diagnosis of GRTH in children is essential for timely intervention.
- Close monitoring of growth and neurodevelopment is critical for affected individuals.
- Understanding the genetic basis and inheritance patterns aids in family screening and management.