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Goitre and deaf-mutism
1Department of Paediatrics & Child Health, University of Khartoum, Sudan.
Upsala Journal of Medical Sciences
|January 1, 1991
Summary
Pendred Syndrome causes congenital deafness and goitre in euthyroid patients due to a genetic defect. This review covers its pathogenesis and treatment, noting its occurrence in Sudanese siblings.
Area of Science:
- Genetics
- Endocrinology
- Otolaryngology
Background:
- Pendred Syndrome is characterized by congenital deafness, mutism, and goitre in euthyroid individuals.
- It affects 4-10% of children with congenital deafness, often presenting with perceptive hearing loss from birth.
Observation:
- Hearing loss is congenital, linked to Mondini-type cochlear malformation.
- Goitre develops in pre-pubertal years, progressing from colloid to nodular enlargement.
- Thyroid defect involves impaired iodine organification, leading to thyroxine underproduction and hyperplasia.
Findings:
- The syndrome results from a single autosomal recessive gene affecting both hearing and thyroid function.
- The autosomal inheritance pattern leads to equal incidence in both sexes.
Implications:
- Understanding the genetic basis and pathogenesis is crucial for diagnosis and management.
- Reviewing current treatment strategies and reporting familial cases aids clinical practice and research.