A rare case of familial Cushing's syndrome with a common presentation of weight gain due to a mutation of the PRKAR1A gene causing isolated primary pigmented nodular adrenocortical disease

作者：Poukoulidou Thekla; Maiter Dominique; Bertherat Jerome; Beauloye Veronique^*

来源：Journal of Pediatric Endocrinology & Metabolism, 2014, 27(9-10): 1005-1009.

DOI：10.1515/jpem-2014-0018

• Carney complex (CC)
• cushing
• primary pigmented nodular adrenocortical disease (PPNAD)

Background: Cushing's syndrome (CS) is uncommon in childhood and adolescence. Variable presentation with subtle symptoms and signs can make diagnosis difficult.
Case report: We report the case of a 17-year-old girl referred for acne and progressive weight gain with an adrenocorticotropic hormone-independent CS. A computed tomography scan of the adrenals showed normal-sized adrenal glands with discrete bilateral shape irregularity. Bilateral adrenalectomy was performed and the histopathological findings were characteristic of primary pigmented nodular adrenocortical disease (PPNAD). Genetic analysis confirmed a germline mutation of the PRKAR1A gene. The same mutation was found in her sister, mother, and maternal grandfather. Endocrine tests showed that the sister of our patient also presented PPNAD requiring bilateral adrenalectomy and a similar histopathological pattern was observed. No other features of Carney complex was found among all affected members of the family.
Conclusion: It is exceptional for PPNAD to be an isolated phenomenon as well as being revealed by progressive weight gain in adolescence.

• 出版日期2014-9