A Carney-komplex, a multiplex endokrin neoplasia szindrómák ritka formája: Klinikai kép és kóreredet

Translated title of the contribution: Clinical features and pathogenesis of Carney complex, a rare form of multiple endocrine neoplasia syndromes

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2 Citations (Scopus)

Abstract

Carney-complex is the rarest and most recently described form of multiple endocrine neoplasia syndromes that is unique both from clinical and pathogenetic aspects. Clinical features include spotty skin pigmentation, cutaneous and cardiac myxomas, multiple endocrine abnormalities and schwannomas. The most characteristic endocrine abnormality is primary pigmented nodular adrenal hyperplasia that may result in clinically apparent Cushing's syndrome. Acromegaly, hyperprolactinaemia, tumours of the testis and ovaries have also been described. Approximately fifty percent of Carney-complex cases are familial, with an autosomal dominant inheritance pattern. About 45-65% of Carney-complex cases are related to mutations of the PRKAR1A gene encoding a regulatory submit of protein kinase A, but other genetic mechanisms seem to be involved, as well. Here, the authors present a brief synopsis of its clinical and pathogenetical features.

Original languageHungarian
Pages (from-to)551-555
Number of pages5
JournalOrvosi hetilap
Volume147
Issue number12
Publication statusPublished - Mar 26 2006

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ASJC Scopus subject areas

  • Medicine(all)

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