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Pituitary

, Volume 22, Issue 5, pp 456–466 | Cite as

Acromegaly in Carney complex

  • T. CunyEmail author
  • T. T. Mac
  • P. Romanet
  • H. Dufour
  • I. Morange
  • F. Albarel
  • A. Lagarde
  • F. Castinetti
  • T. Graillon
  • M. O. North
  • A. Barlier
  • T. Brue
Article
  • 90 Downloads

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.

Keywords

Acromegaly Carney complex PRKAR1A Microadenoma Myxoma 

Notes

Compliance with ethical standards

Conflict of interest

All the author declare that they have no conflict of interest.

Ethical approval

This article does not contain any studies with animals and human participants performed by any of the authors.

Informed consent

Informed consent was obtained from all individual participants included in the study.

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • T. Cuny
    • 1
    Email author
  • T. T. Mac
    • 1
  • P. Romanet
    • 2
  • H. Dufour
    • 3
  • I. Morange
    • 4
  • F. Albarel
    • 4
  • A. Lagarde
    • 2
  • F. Castinetti
    • 1
  • T. Graillon
    • 3
  • M. O. North
    • 5
  • A. Barlier
    • 2
  • T. Brue
    • 1
  1. 1.Department of Endocrinology, Hospital La ConceptionAix Marseille Univ, APHM, INSERM, MMGMarseilleFrance
  2. 2.Laboratory of Molecular Biology, Hospital La ConceptionAix Marseille Univ, APHM, INSERM, MMGMarseilleFrance
  3. 3.Department of Neurosurgery, Hospital La TimoneAix Marseille Univ, APHM, INSERM, MMGMarseilleFrance
  4. 4.Department of EndocrinologyAPHM, Hospital La ConceptionMarseilleFrance
  5. 5.Laboratory of Genetics and Molecular BiologyAPHP, Cochin HospitalParisFrance

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