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Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience
Saba Samad Memon1, Kunal Thakkar1, Virendra Patil1
1Department of Endocrinology and Metabolism, Seth G S Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|March 16, 2019
Summary
Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of pediatric Cushing's syndrome (CS). Genetic testing for PRKAR1A mutations is recommended for young patients with overt CS, as it may indicate Carney complex (CNC).
Area of Science:
- Pediatric Endocrinology
- Genetics
- Adrenal Diseases
Background:
- Primary pigmented nodular adrenocortical disease (PPNAD) is an uncommon cause of Cushing's syndrome (CS) in children.
- This study presents a case series and literature review of PPNAD in pediatric patients.
Purpose of the Study:
- To analyze demographic, hormonal, imaging, genetic, and histopathologic features of pediatric PPNAD.
- To investigate the association between PPNAD, Cushing's syndrome, and Carney complex (CNC).
Main Methods:
- Retrospective analysis of six index cases and one family.
- Biochemical, histopathological, and genetic mutation analyses were performed.
- Imaging studies including CT scans were reviewed.
Main Results:
- The mean age of presentation was 8.2 years, with all patients exhibiting overt CS.
- Three patients had features of Carney complex (CNC).
- PRKAR1A gene mutations were identified in three patients; imaging showed classical PPNAD features in only two.
Conclusions:
- PPNAD is a rare cause of ACTH-independent CS in childhood and can be associated with CNC.
- Younger patients with overt CS should be considered for genetic testing for PRKAR1A mutations.
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