T Cuny1, T T Mac2, P Romanet3, H Dufour4, I Morange5, F Albarel5, A Lagarde3, F Castinetti2, T Graillon4, M O North6, A Barlier3, T Brue2. 1. Department of Endocrinology, Hospital La Conception, Aix Marseille Univ, APHM, INSERM, MMG, 147 Boulevard Baille, 13005, Marseille, France. thomas.cuny@ap-hm.fr. 2. Department of Endocrinology, Hospital La Conception, Aix Marseille Univ, APHM, INSERM, MMG, 147 Boulevard Baille, 13005, Marseille, France. 3. Laboratory of Molecular Biology, Hospital La Conception, Aix Marseille Univ, APHM, INSERM, MMG, Marseille, France. 4. Department of Neurosurgery, Hospital La Timone, Aix Marseille Univ, APHM, INSERM, MMG, Marseille, France. 5. Department of Endocrinology, APHM, Hospital La Conception, Marseille, France. 6. Laboratory of Genetics and Molecular Biology, APHP, Cochin Hospital, Paris, France.
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.
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.
Authors: J C Watson; C A Stratakis; P K Bryant-Greenwood; C A Koch; L S Kirschner; T Nguyen; J A Carney; E H Oldfield Journal: J Neurosurg Date: 2000-03 Impact factor: 5.115
Authors: L S Kirschner; J A Carney; S D Pack; S E Taymans; C Giatzakis; Y S Cho; Y S Cho-Chung; C A Stratakis Journal: Nat Genet Date: 2000-09 Impact factor: 38.330
Authors: T Mabuchi; M Shimizu; H Ino; M Yamguchi; H Terai; N Fujino; M Nagata; K Sakata; M Inoue; T Yoneda; H Mabuchi Journal: Int J Cardiol Date: 2005-07-10 Impact factor: 4.164
Authors: O Kurtkaya-Yapicier; B W Scheithauer; J A Carney; K Kovacs; E Horvath; C A Stratakis; S Vidal; A Vella; W F Young; J L D Atkinson; R V Lloyd; G Kontogeorgos Journal: Ultrastruct Pathol Date: 2002 Nov-Dec Impact factor: 1.094