Delayed diagnosis of Pendred syndrome.
We describe a case of a delayed diagnosis of Pendred syndrome. The patient had a history of hearing loss from childhood and presented to the endocrine clinic when aged 32 with an enlarging goitre. The characteristic Mondini deformity was noted on auditory canal MRI scan. Genetic tests confirmed the diagnosis. Pendred syndrome is an autosomal recessive disorder, characterised by congenital sensorineural hearing loss, goitre and impaired iodide organification and can present at any age. We highlight to the general physician the classical features of this syndrome that would aid early diagnosis.
KCL Medical School, King's College London School of Medical Education, London, UK.
Natalie
N
Smith
King's College Hospital NHS Foundation Trust, London, UK.
Jean-Marie
JM
U-King-Im
Guy's and Saint Thomas' NHS Foundation Trust, London, UK.
Janaka
J
Karalliedde
D000328:Adult; D057210:Delayed Diagnosis; D005260:Female; D006042:Goiter / Q000235:genetics; D006044:Goiter, Nodular / Q000150:complications / Q000175:diagnosis*; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans