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

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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.

E M Orlova

Email: elizaveta.orlova@mail.ru

M A Kareva

E Iu Zakharova

G A Poliakova

I V Poddubnyĭ

K N Tolstov

L I Shiriaeva

M A Melikian

N Iu Kalinchenko

N V Udalova

V A Peterkova

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Copyright (c) 2012 Orlova E.M., Kareva M.A., Zakharova E.I., Poliakova G.A., Poddubnyĭ I.V., Tolstov K.N., Shiriaeva L.I., Melikian M.A., Kalinchenko N.I., Udalova N.V., Peterkova V.A.

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