EYES2019 7th ESE Young Endocrinologists and Scientists (EYES) Meeting Oral Presentations (67 abstracts)
Phenotype of patients carrying the c.709(-7-2)del PRKAR1A mutation in a large cohort of 40 patients
Fatimetou Abderrahmane 1 , Gerald Raverot 2 , Hervé Lefebvre 3 , Catherine Cardot-Bauters 1 , Marie-Christine Vantyghem 1 , Jérôme Bertherat *, & Stéphanie Espiard *,
1Service d’endocrinologie, diabétologie, métabolisme et nutrition, CHR-U de Lille, Hôpital Huriez, France; 2Fédération d’endocrinologie, groupement Hospitalier Est, Hospices Civils de Lyon, France; 3Service d’endocrinologie, diabète et maladies métaboliques, CHU de Rouen, France; 4Service d’endocrinologie, Centre de référence des maladies surrénaliennes rares, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France.
Objective: To describe the Carney Complex (CNC) manifestations presented by patients harboring the PRKAR1A mutation c.709(-7-2)del (one of the three hotspots) in a large cohort of patients.
Methods: Multicenter retrospective study. Age at the diagnosis or at the screening of the different CNC manifestations is described by mean ± standard deviation.
Results: Forty patients [12 index cases, 27 females, 46±15 years old (yo)] from 11 families have been included. The PRKAR1A mutation had been discovered at 33.3±15.2yo. Twenty-two patients (19 females) were diagnosed in a context of primary pigmented adrenal disease (PPNAD) at 30.0±13.8yo. For the remaining 21 patients, the last overnight dexamethasone cortisol suppression test performed at 44.9±14.7yo was abnormal in 5 patients. Six patients presented with fluctuating anomaly of IGF1 and/or GH after oral glucose tolerance test (last evaluation performed at 42.2±14yo). At the last dermatological examination (40.5±14.6yo), 6 patients presented with lentigines. One patient had a history of thyroid papillary microcarcinoma. At the last thyroid ultrasound (43.6±13.0yo), 2 had bilateral thyroid nodules. At the last cardiac ultrasound, pituitary magnetic resonance imaging (MRI), spine MRI, testicular ultrasound, mammography performed at 40.6±14.9yo, 37.9±14.3yo, 42.9±12yo, 37.0±12.4yo and 46.9±12.3yo, no patient had cardiac myxoma, pituitary adenoma, schwannoma, testicular calcifying tumor or breast myxoma.
Conclusions: The phenotype of this well followed cohort carrying the c.709(-7-2)del PRKAR1A mutation is restricted to PPNAD, lentigines, fluctuating somatotroph anomalies and thyroid tumors. Imaging except thyroid ultrasound may not be needed to follow these patients in contrast to other CNC patients.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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