Three cases of Carney complex in the children: clinical and molecular-genetic features of Carney complex in the children (the first description in Russia)

Orlova E.M.; Kareva M.A.; Zakharova E.Iu.; Poliakova G.A.; Poddubnyĭ I.V.; Tolstov K.N.; Shiriaeva L.I.; Melikian M.A.; Kalinchenko N.Iu.; Udalova N.V.; Peterkova V.A.

doi:https://doi.org/

Orlova E.M.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia Rossiĭskoĭ Federatsii, Moskva

Kareva M.A.

Institut detskoĭ éndokrinologii Éndokrinologicheskogo nauchnogo tsentra, Moskva

Zakharova E.Iu.

Mediko-geneticheskiĭ tsentr RAMN

Poliakova G.A.

MONIKI im. M.F. Vladimirskogo, Moskva

Poddubnyĭ I.V.

Moskovskiĭ gosudarstvennyĭ mediko-stomatologicheskiĭ universitet

Tolstov K.N.

Moskovskiĭ gosudarstvennyĭ mediko-stomatologicheskiĭ universitet

Shiriaeva L.I.

IPMO "Voronezhskaia gosudarstvennaia meditsinskaia akademiia"

Melikian M.A.

NII detskoĭ éndokrinologii Éndokrinologicheskogo nauchnogo tsentra, Moskva

Kalinchenko N.Iu.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Udalova N.V.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia RF, Moskva

Peterkova V.A.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Three cases of Carney complex in the children: clinical and molecular-genetic features of Carney complex in the children (the first description in Russia)

Authors:

Orlova E.M., Kareva M.A., Zakharova E.Iu., Poliakova G.A., Poddubnyĭ I.V., Tolstov K.N., Shiriaeva L.I., Melikian M.A., Kalinchenko N.Iu., Udalova N.V., Peterkova V.A.

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Journal: Problems of Endocrinology. 2012;58(5): 50‑56

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To cite this article:

Orlova EM, Kareva MA, Zakharova EIu, et al. . Three cases of Carney complex in the children: clinical and molecular-genetic features of Carney complex in the children (the first description in Russia). Problems of Endocrinology. 2012;58(5):50‑56. (In Russ.)

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Abstract:

Carney complex is a rare autosomal dominant condition that manifests itself as a combination of lentiginosis, heart and skin myxomas, primary pigmented micronodular adrenocortical hyperplasia with ACTH-independent hypercorticism, calcifying Sertoli cell testicular tumours, schwannomas, thyroid and breast tumours, and other neoplasms. A total of 400 patients presenting with this pathology has thus far been described worldwide. 75% of the patients with Carney complex were found to have mutations in the gene encoding for the regulatory alpha-subunit of proteinkinase A (PRKARIA). The present paper presents three cases of Carney syndrome diagnosed in adolescents. Two new mutations in the PRKARIA gene were identified (c.1111_1112insC (pp.Q370fsX11) and c.1016T>A (p.339V>D)). One of the patients had adrenal adenoma. To the best of our knowledge, it is the first case of benign adrenal tumour greater than 2 cm in size in the patient with Carney complex.

Keywords:

Carney complex

adrenal adenoma

primary pigmented micronodular adrenocortical hyperplasia

PRKARIA gene

Authors:

Orlova E.M.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia Rossiĭskoĭ Federatsii, Moskva

Kareva M.A.

Institut detskoĭ éndokrinologii Éndokrinologicheskogo nauchnogo tsentra, Moskva

Zakharova E.Iu.

Mediko-geneticheskiĭ tsentr RAMN

Poliakova G.A.

MONIKI im. M.F. Vladimirskogo, Moskva

Poddubnyĭ I.V.

Moskovskiĭ gosudarstvennyĭ mediko-stomatologicheskiĭ universitet

Tolstov K.N.

Moskovskiĭ gosudarstvennyĭ mediko-stomatologicheskiĭ universitet

Shiriaeva L.I.

IPMO "Voronezhskaia gosudarstvennaia meditsinskaia akademiia"

Melikian M.A.

NII detskoĭ éndokrinologii Éndokrinologicheskogo nauchnogo tsentra, Moskva

Kalinchenko N.Iu.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Udalova N.V.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia RF, Moskva

Peterkova V.A.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

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References:

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