A case of congenital hypothyroidism combined with sensorineural hearing loss (Pendred syndrome) caused by a TPO gene defect

Makretskaya N.A.

Endocrinology Research Centre, Moscow, Russia

Bezlepkina O.B.

FGBU "ndokrinologicheskiĭ nauchnyĭ tsentr" Minzdrava Rossii, Moskva

Chikulaeva O.A.

FGBU "ndokrinologicheskiĭ nauchnyĭ tsentr" Minzdrava Rossii, Moskva

Vasil’eva E.V.

Endocrinology Research Centre, Moscow, Russia

Petrov V.M.

Endocrinology Research Centre, Moscow, Russia

Dedov I.I.

Endocrinology Research Centre

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

A case of congenital hypothyroidism combined with sensorineural hearing loss (Pendred syndrome) caused by a TPO gene defect

Authors:

Makretskaya N.A., Bezlepkina O.B., Chikulaeva O.A., Vasil’eva E.V., Petrov V.M., Dedov I.I., Tiul'pakov A.N.

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Journal: Problems of Endocrinology. 2017;63(2): 110‑113

DOI: 10.14341/probl2017632110-113

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To cite this article:

Makretskaya NA, Bezlepkina OB, Chikulaeva OA, Vasil’eva EV, Petrov VM, Dedov II, Tiul'pakov AN. 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. (In Russ.)
https://doi.org/10.14341/probl2017632110-113

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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.

Keywords:

TPO

Pendred syndrome

congenital hypothyroidism

multinodular goiter

sensorineural hearing loss

Authors:

Makretskaya N.A.

Endocrinology Research Centre, Moscow, Russia

Bezlepkina O.B.

FGBU "ndokrinologicheskiĭ nauchnyĭ tsentr" Minzdrava Rossii, Moskva

Chikulaeva O.A.

FGBU "ndokrinologicheskiĭ nauchnyĭ tsentr" Minzdrava Rossii, Moskva

Vasil’eva E.V.

Endocrinology Research Centre, Moscow, Russia

Petrov V.M.

Endocrinology Research Centre, Moscow, Russia

Dedov I.I.

Endocrinology Research Centre

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

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