ESPE Abstracts (2014) 82 P-D-1-3-14

Clinical, Biological and Genetic Characteristics of 48 Pediatric Patients with Micronodular Adrenal Hyperplasia (MAH)

Anya Rothenbuhlera, Evgenia Gourgarib,c, Maya Lodishb & Constantine Stratakisb

aService d’Endocrinologie Pédiatrique, Université Paris-Sud 11, Hôpital Bicêtre, 94270 Le Kremlin-Bicêtre, France; bSection on Endocrinology and Genetics (SEGEN), Program on Developmental Endocrinology and sGenetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Nation, Bethesda, Maryland 20892, USA; cDivision of Pediatric Endocrinology, Georgetown University Hospital, Washington, District of Colombia 20016, USA

Background: Micronodular adrenal hyperplasia (MAH) is a rare disease.

Objective: Describe the clinical, biological and genetic characteristics of micronodular adrenal hyperplasia (MAH) in children.

Method: Retrospective study based on medical records (from the NIH and Bicêtre Hospital) of 47 pediatric patients (age <18 years at first signs of disease) with ACTH-independent Cushing syndrome (AICS) due to MAH proven histologically. Thirty-three girls and 15 boys were studied.

Results: AICS appeared at a median age of 9.6±4.6 years (comparable in both sexes) and two cases were neonatal. Six patients presented with cyclical CS. Seven patients presented with cardiac myxomas of which six had at least one re-occurrence; in two cases the cardiac myxoma was revealed by a vascular embolism. Twenty patients had characteristic dermatological findings of Carney Complex (lentigines, blue nevi, cutaneous myxoma). 21 patients presented with isolated AICS. All patients (when explored during an active phase) had high UFC’s, high midnight cortisol levels, low ACTH and a paradoxical response to dexamethasone (Liddle’s test); 25 cases were sporadic and 23 familial (in 16 familial cases the child was the index case). 20 patients had a PRKAR1A mutation, of which 14 were familial and six were sporadic cases. All studied patients that had a cardiac myxoma had a PRKAR1A mutation.

Conclusion: Forty-five percent of pediatric cases of MAH presented as isolated AICS and 55% of patients had Carney Complex.

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