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Familial hypothyroidism with autosomal dominant inheritance
M Mimouni1, A Mimouni-Bloch, J Schachter
1Schneider Children's Medical Centre of Israel, Petah Tiqva, Israel.
Archives of Disease in Childhood
|September 1, 1996
Summary
This study describes a family with hypothyroidism due to thyroid stimulating hormone (TSH) unresponsiveness, inherited in an autosomal dominant pattern. This finding may help pinpoint the genetic cause of this rare endocrine disorder.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Hypothyroidism is a common endocrine disorder.
- Thyroid stimulating hormone (TSH) unresponsiveness is a rare cause of hypothyroidism.
- Genetic factors play a role in the etiology of hypothyroidism.
Purpose of the Study:
- To describe a family with hereditary hypothyroidism due to TSH unresponsiveness.
- To investigate the mode of transmission of TSH unresponsiveness.
- To provide a basis for identifying the genetic defect responsible for TSH unresponsiveness.
Main Methods:
- Clinical examination of three generations.
- Biochemical analysis of thyroid hormones and TSH levels.
- Radioiodine uptake studies.
Main Results:
- Clinical and subclinical hypothyroidism observed across generations.
- Characterized by low/normal thyroxine, elevated TSH, and low radioiodine uptake.
- Absence of goitre in affected individuals.
Conclusions:
- Autosomal dominant inheritance of TSH unresponsiveness demonstrated in this family.
- This family represents a valuable resource for genetic linkage studies.
- Potential to identify the specific genetic defect underlying TSH unresponsiveness.