Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome

• Published in: Journal of medical genetics Vol. 36; no. 8; pp. 595 - 598
• Main Authors: Reardon, William, Coffey, Rebecca, Chowdhury, Tanzina, Grossman, Ashley, Jan, Hikmat, Britton, Keith, Kendall-Taylor, Pat, Trembath, Richard
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01-08-1999; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: Adolescent; Adult; Age; Age of Onset; Biological and medical sciences; Child; Complex syndromes; Congenital diseases; Deafness; Deafness - complications; Deafness - epidemiology; Deafness - genetics; Female; Goiter - complications; Goiter - epidemiology; Goiter - genetics; Hearing loss; Humans; Male; Medical genetics; Medical sciences; Middle Aged; Mutation; Original; Patients; Pendred syndrome; Prevalence; Studies; Surgery; Syndrome; thyroid disease; Thyroid diseases; Endocrinopathy; Human; Pendred syndrome; Phenotype; Prevalence; Age of onset; Goiter; Thyroid diseases; ENT disease; Complex syndrome; Genetic disease
• ISSN: 0022-2593; 1468-6244
• DOI: 10.1136/jmg.36.8.595

BACKGROUND We have sought to establish the prevalence of goitre within a Pendred syndrome (PS) cohort and to document the course of thyroid disease in this patient group. As part of a genetic study of PS we have assessed 57 subjects by perchlorate discharge test and in 52 (M 21, F 31, age range 9-54 years) a discharge of radioiodide of >10% was observed. RESULTS Goitre was present in 43 (83%) of the cohort (28 F, 15 M), generally developing after the age of 10 years, 56% remained euthyroid (age range 9-37 years), and 19 patients (44%) had objective evidence of hypothyroidism, all of whom had goitre. CONCLUSIONS In summary, thyroid dysfunction in PS is variable and inclusion of goitre as a diagnostic requirement will maintain significant underascertainment. The recent identification of the genetic defect underlying PS is likely to provide an important diagnostic aid in the identification of this disorder and this communication should assist clinicians in identifying deaf patients who ought to be considered for this investigation.