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Acromegaly in Carney complex.

T Cuny1, T T Mac2, P Romanet3

  • 1Department of Endocrinology, Hospital La Conception, Aix Marseille Univ, APHM, INSERM, MMG, 147 Boulevard Baille, 13005, Marseille, France. thomas.cuny@ap-hm.fr.

Pituitary
|July 3, 2019
PubMed
Summary
This summary is machine-generated.

Acromegaly in Carney complex (CNC) patients presents earlier and more frequently involves pituitary microadenomas. This rare association highlights unique endocrine manifestations in CNC patients.

Keywords:
AcromegalyCarney complexMicroadenomaMyxomaPRKAR1A

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Area of Science:

  • Endocrinology
  • Genetics
  • Oncology

Background:

  • Carney complex (CNC) is a rare autosomal dominant disorder linked to PRKAR1A gene mutations.
  • It involves mucocutaneous pigmentation, myxomas, and endocrine overactivity.
  • Acromegaly is an uncommon but significant manifestation of CNC.

Observation:

  • This report details a patient with concomitant CNC and acromegaly due to a novel PRKAR1A mutation.
  • A literature review identified 57 acromegaly cases in CNC patients.
  • Acromegaly revealed CNC in only 4 instances.

Findings:

  • Acromegaly in CNC patients occurs at a younger median age (28.8 years).
  • Pituitary microadenomas are more prevalent in CNC-associated acromegaly (24/26 cases) compared to general acromegaly.
  • The patient's GH-secreting pituitary microadenoma was resistant to somatostatin analogs.

Implications:

  • Acromegaly may indicate underlying CNC, even if rare.
  • Early diagnosis of acromegaly in young individuals warrants consideration for CNC.
  • Understanding these associations aids in comprehensive patient management and genetic counseling.