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Pastukhova D.A.

Endocrinology Research Centre, Moscow, Russia

Babushkin A.V.

Endocrinology Research Centre, Moscow, Russia

Lapshina A.M.

Endocrinology Research Centre, Moscow, Russia

Bricheva E.B.

Endocrinology Research Centre, Moscow, Russia

Kalinchenko N.Yu.

Endocrinology Research Centre, Moscow, Russia

Urusova L.S.

Endocrinology Research Centre, Moscow, Russia

Abrosimov A.Yu.

Endocrinology Research Centre, Moscow, Russia

Nagaeva E.V.

Endocrinology Research Centre, Moscow, Russia

Dyshormonogenetic goiter in a patient with congenital hypothyroidism: clinical, morphological and genetic features

Authors:

Pastukhova D.A., Babushkin A.V., Lapshina A.M., Bricheva E.B., Kalinchenko N.Yu., Urusova L.S., Abrosimov A.Yu., Nagaeva E.V.

More about the authors

Journal: Russian Journal of Archive of Pathology. 2026;88(3): 59‑65

DOI: 10.17116/patol20268803159

Read: 424 times

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Table of contents

DYSHORMONOGENETIC GOITER IN A PATIENT WITH CONGENITAL HYPOTHYROIDISM: CLINICAL, MORPHOLOGICAL AND GENETIC FEATURES
DYSHORMONOGENETIC GOITER IN A PATIENT WITH CONGENITAL HYPOTHYROIDISM: CLINICAL, MORPHOLOGICAL AND GENETIC FEATURES

To cite this article:

Pastukhova DA, Babushkin AV, Lapshina AM, et al. Dyshormonogenetic goiter in a patient with congenital hypothyroidism: clinical, morphological and genetic features. Russian Journal of Archive of Pathology. 2026;88(3):59‑65. (In Russ.)
https://doi.org/10.17116/patol20268803159

Подписка 2026 Архив патологии (Russian Journal of Archive of Pathology)
МСФ на ЯМ
Использование инфографики авторами научных работ
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Abstract:

Dyshormonogenetic goiter (DG) is a rare genetic disorder of thyroid gland development resulting from deficiencies in enzymes involved in thyroid hormone synthesis. Clinical manifestations include congenital hypothyroidism (CH), thyroid enlargement, and nodule formation. Morphologically, the thyroid gland exhibits histoarchitectural heterogeneity and cellular polymorphism, which can mimic malignant neoplasms and complicate differential diagnosis. Morphological examination revealed pronounced polymorphism of thyroid nodules without signs of malignancy. The pathogenic heterozygous variant was detected in the TPO gene by molecular genetic analysis.

Keywords:

congenital hypothyroidism
dyshormonogenetic goiter
TPO
fine-needle aspiration biopsy
cytology
histology
genetics

Authors:

Pastukhova D.A.

Endocrinology Research Centre, Moscow, Russia

Babushkin A.V.

Endocrinology Research Centre, Moscow, Russia

Lapshina A.M.

Endocrinology Research Centre, Moscow, Russia

Bricheva E.B.

Endocrinology Research Centre, Moscow, Russia

Kalinchenko N.Yu.

Endocrinology Research Centre, Moscow, Russia

Urusova L.S.

Endocrinology Research Centre, Moscow, Russia

Abrosimov A.Yu.

Endocrinology Research Centre, Moscow, Russia

Nagaeva E.V.

Endocrinology Research Centre, Moscow, Russia

Received:

22.09.2025

Accepted:

16.02.2026

Close metadata

References:

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