A case of congenital hypothyroidism combined with sensorineural hearing loss (Pendred syndrome) caused by a TPO gene defect
Nina A. Makretskaya,
Olga B. Bezlepkina,
Olga A. Chikulaeva,
Evgeny V. Vasilyev,
Vasiliy M. Petrov,
Ivan I. Dedov,
Anatoly N. Tiulpakov https://doi.org/10.14341/probl2017632110-113
Abstract
Congenital hypothyroidism is a genetically heterogeneous group of diseases caused by two mechanisms: gland dysgenesis and dyshormonogenesis. The disease pattern includes a number of syndromic forms, one of which is a combination of congenital hypothyroidism and sensorineural hearing loss (Pendred syndrome) initially associated with SLC26A4 gene defects. The article describes a patient with clinical manifestations of Pendred syndrome who was diagnosed with a TPO gene defect during a molecular genetic analysis using next generation sequencing (NGS). Therefore, a combination of congenital hypothyroidism and sensorineural hearing loss can have a different molecular basis. Our findings illustrate the value of NGS for genetic verification of the diagnosis.
About the Authors
Nina A. MakretskayaEndocrinology Research Centre
Russian Federation
MD
Olga B. Bezlepkina
Endocrinology Research Centre
Russian Federation
MD, PhD, Professor
Olga A. Chikulaeva
Endocrinology Research Centre
Russian Federation
MD, PhD
Evgeny V. Vasilyev
Endocrinology Research Centre
Russian Federation
PhD
Vasiliy M. Petrov
Endocrinology Research Centre
Russian Federation
PhD
Ivan I. Dedov
Endocrinology Research Centre
Russian Federation
MD, PhD, Professor
Anatoly N. Tiulpakov
Endocrinology Research Centre
Russian Federation
MD, PhD
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For citations:
Makretskaya N.A., Bezlepkina O.B., Chikulaeva O.A., Vasilyev E.V., Petrov V.M., Dedov I.I., Tiulpakov A.N. A case of congenital hypothyroidism combined with sensorineural hearing loss (Pendred syndrome) caused by a TPO gene defect. Problems of Endocrinology. 2017;63(2):110-113. https://doi.org/10.14341/probl2017632110-113
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