Comparison of MRI findings with traditional criteria in diagnosis of Pendred syndrome.
Pendred syndrome, defined as the constellation of goiter, sensori-neural hearing loss, and positive perchlorate discharge test, is the most frequent cause of congenital deafness. Newly introduced diagnostic approaches to the disease are rather expensive and complicated, therefore we evaluated the value of MRI as the sole, or adjunctive diagnostic approach, and compared it with the traditional ones. Presuming the classic triad as the gold standard, we compared MRI findings in six such defined patients with six cases having goiter, hearing loss, and normal perchlorate discharge test. Our results indicated that MRI was 83.6% sensitive and 66.7% specific in patients fulfilling all three criteria (complete), while in the 'partial' group the sensitivity and specificity were 66.7% and 100% respectively. In conclusion, MRI, although impressive as an adjunctive diagnostic tool, may not replace the holistic approach, and the latter may be more convenient, cheaper, and still more accurate. However in 'partial' cases with equivocal findings, and in relatives of the patients, MRI may be a valuable diagnostic adjunct.
Sharghi
Sasan
S
Endocrinology and Metabolism Research Center (EMRC), Shariati Hospital, Tehran University of Medical Sciences, Iran.
Haghpanah
Vahid
V
Heshmat
Ramin
R
Fard-Esfahani
Armaghan
A
Hadizadeh
Homayoun
H
Lashkari
Anahita
A
Tabatabaei
Ozra
O
Taheri
Eghbal
E
Motesaddi
Massoud
M
Mojtahedi
Alireza
A
Larijani
Bagher
B
D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D012720:Severity of Illness Index; D013577:Syndrome; D013959:Thyroid Diseases / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D013974:Thyroxine / Q000096:biosynthesis / Q000235:genetics; D014722:Vestibule, Labyrinth / Q000473:pathology
D013974:Thyroxine