Goitre and hearing impairment in a patient with Pendred syndrome.
نویسندگان
چکیده
A case is described here of a young euthyroid woman with a goitre and hearing impairment. Perchlorate discharge test showed increased washout of iodine. Genetic analysis confirmed the diagnosis of Pendred syndrome as a mutation in the Pds gene was found. The patient was treated with potassium iodine orally. During follow-up there where no symptoms of hyperthyroidism and the size of the goitre decreased.
منابع مشابه
Pendred Syndrome: A Case Report
In this article Pendred's syndrome, which is the combination of - congenital goitre with deafmutism, is discussed. This type of goitre is due to a special enzymatic defect, involving a process of hormonogenesis, which is respon-· sible for the incorporation of iodide in the tyrosine molecule. A case of pendred's syndrome is presented in a 16-year-old girl. This girl has never been able to...
متن کاملPendred syndrome: evidence for genetic homogeneity and further refinement of linkage.
Pendred syndrome is the association between congenital sensorineural deafness and goitre. The disorder is characterised by the incomplete discharge of radioiodide from a primed thyroid following perchlorate challenge. However, the molecular basis of the association between hearing loss and a defect in organification of iodide remains unclear. Pendred syndrome is inherited as an autosomal recess...
متن کاملMolecular analysis of the PDS gene in Pendred syndrome.
Pendred syndrome is an autosomal recessive disorder characterized by the association between sensorineural hearing loss and thyroid swelling or goitre and is likely to be the most common form of syndromic deafness. Within the thyroid gland of affected individuals, iodide is incompletely organified with variable effects upon thyroid hormone biosynthesis, whilst the molecular basis of the hearing...
متن کاملOriginal articles Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome
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%) o...
متن کاملPrevalence, age of onset, and natural history of thyroid disease in Pendred syndrome.
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%)...
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ورودعنوان ژورنال:
- The Netherlands journal of medicine
دوره 66 3 شماره
صفحات -
تاریخ انتشار 2008