Analysis of thyroid hormone levels in patients with hearing disorders in the Republic of Buryatia: search for Pendred syndrome phenotypes
N. A. Barashkov,
V. G. Pshennikova,
F. M. Teryutin,
S. K. Kononova,
A. M. Cherdonova,
A. V. Solovyev,
S. S. Kuzmina,
G. P. Romanov,
N. N. Sazonov,
S. A. Fedorova https://doi.org/10.25789/YMJ.2020.72.09
Abstract
The article presents the results of the diagnostic search of the hereditary autosomal recessive disease Pendred's syndrome (sensorineural deafness combined with thyroid disorders) in patients with hearing disorders in Buryatia using instrumental (threshold tone audiometry) and laboratory methods (ELISA analysis of FT3, FT4 and TSH). Threshold tonal audiometry and analysis of thyroid hormone levels were performed in 164 patients with hearing impairment. The analysis showed that 7.9% (13 out of 164 people) of patients with severe hearing loss and deafness can be assumed to have thyroid disorders (12 people – hypothyroidism, 1 person – hyperthyroidism). Overall, 7.3% of deaf patients with hypothyroidism (12 of 164) were formally consistent with the clinical features characteristic of Pendred's syndrome.
Keywords
Pendred's syndrome,
hearing impairment,
thyroid-stimulating hormone (TSH),
free triiodothyronine (FT3),
free thyroxine (FT4),
Buryatia
Supporting agencies: The work was performed as part of the research YSC ILC "to study the genetic structure and the load of hereditary pathology of the population of the Republic of Sakha (Yakutia)", the base part of state assignment of Ministry of science and education RF (FSRG-2020-0016) and with the support of grants RFBR (18- 05-600035_Аrctika, 18-015-00212_A, 20-015-00328_A).
About the Authors
N. A. Barashkov
Yakutsk scientific center for complex medical problems
Russian Federation
Russian Federation
Barashkov Nikolay Alekseevich – Ph.D, head of the laboratory
Yakutsk
V. G. Pshennikova
Yakutsk scientific center for complex medical problems
Russian Federation
Russian Federation
Pshennikova Vera Gennadievna – Ph.D, head of the laboratory
F. M. Teryutin
Yakutsk scientific center for complex medical problems
Russian Federation
Russian Federation
Teryutin Fyodor Mikhailovich – Ph.D, senior researcher
S. K. Kononova
Yakutsk scientific center for complex medical problems
Russian Federation
Russian Federation
Kononova Sardana Kononovna - Ph.D, senior researcher
A. M. Cherdonova
M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
Cherdonova Aleksandra Matveevna – postgraduate
A. V. Solovyev
M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
Solovyev Aisen Vasilyevich - Ph.D., senior researcher
S. S. Kuzmina
M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
Kuzmina Sargylana Semenovna – Ph.D, associate professor
G. P. Romanov
M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
Romanov Georgii Prokopievich – researcher
N. N. Sazonov
M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
Sazonov Nikolay Nikitich – Ph.D, professor
S. A. Fedorova
M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
Fedorova Sardana Arkad'evna - Ph.D, principal researcher
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Review
For citations:
Barashkov N.A., Pshennikova V.G., Teryutin F.M., Kononova S.K., Cherdonova A.M., Solovyev A.V., Kuzmina S.S., Romanov G.P., Sazonov N.N., Fedorova S.A. Analysis of thyroid hormone levels in patients with hearing disorders in the Republic of Buryatia: search for Pendred syndrome phenotypes. Yakut Medical Journal. 2020;(4):34-37. https://doi.org/10.25789/YMJ.2020.72.09
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