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Acromegaly in Carney complex

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Abstract

Purpose

Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by mucocutaneous pigmentation, cardiac, cutaneous myxomas and endocrine overactivity. It is generally caused by inactivating mutations in the PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha) gene. Acromegaly is an infrequent manifestation of CNC, reportedly diagnosed in 10% of patients.

Methods

We here report the case of a patient who was concomitantly diagnosed with Carney complex, due to a new mutation in PRKAR1A ((NM_002734.3:c.80_83del, p.(Ile27Lysfs*101 in exon 2), and acromegaly. In parallel, we conducted an extensive review of published case reports of acromegaly in the setting of CNC.

Results

The 43-year-old patient was diagnosed with an acromegaly due to a GH-secreting pituitary microadenoma resistant to somatostatin analogs. He underwent transsphenoidal surgery in our tertiary referral center, which found a pure GH-secreting adenoma. In the literature, we identified 57 cases (24 men, 33 women) of acromegaly in CNC patients. The median age at diagnosis was 28.8 ± 12 year and there were 6 cases of gigantism. Acromegaly revealed CNC in only 4 patients. 24 patients had a microadenoma and two carried pituitary hyperplasia and/or multiple adenomas, suggesting that CNC may result in a higher proportion of microadenoma as compared to non-CNC acromegaly.

Conclusions

Although it rarely reveals CNC, acromegaly is diagnosed at a younger age in this setting, with a higher proportion of microadenomas.

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Authors and Affiliations

  1. Department of Endocrinology, Hospital La Conception, Aix Marseille Univ, APHM, INSERM, MMG, 147 Boulevard Baille, 13005, Marseille, France

    T. Cuny, T. T. Mac, F. Castinetti & T. Brue

  2. Laboratory of Molecular Biology, Hospital La Conception, Aix Marseille Univ, APHM, INSERM, MMG, Marseille, France

    P. Romanet, A. Lagarde & A. Barlier

  3. Department of Neurosurgery, Hospital La Timone, Aix Marseille Univ, APHM, INSERM, MMG, Marseille, France

    H. Dufour & T. Graillon

  4. Department of Endocrinology, APHM, Hospital La Conception, Marseille, France

    I. Morange & F. Albarel

  5. Laboratory of Genetics and Molecular Biology, APHP, Cochin Hospital, Paris, France

    M. O. North

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  1. T. Cuny
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Correspondence to T. Cuny.

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Cuny, T., Mac, T.T., Romanet, P. et al. Acromegaly in Carney complex. Pituitary 22, 456–466 (2019). https://doi.org/10.1007/s11102-019-00974-8

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