Background: PPNAD is a rare form of bilateral adrenal hyperplasia associated with Carney complex and PRKAR1A mutation. We report the experience of monitoring disease activity in two patients with PPNAD.
Both patients (case 1: a 7.4-year-old boy and case 2: a 6.1-year-old girl) presented with rapid onset of cushingoid symptoms, weight gain and hypertension together with multiple freckles and lentigines.
Biochemical analysis on both patients confirmed ACTH independent-hypercortisolism and a paradoxical rise in plasma cortisol, urinary tetrahydrodeoxycortisol and urinary free cortisol levels on dexamethasone, as previously reported in PPNAD. Histopathological findings, in both patients, were consistent with a diagnosis of PPNAD. Plasma androstenedione levels (A) were elevated in both patients at presentation (see Table).
In Case 1 a left-sided adrenalectomy led to a temporary resolution of clinical findings with a fall in androstenedione. Twelve months later he again developed cushingoid features, mirrored by a rise in his androstenedione level which again fell following a right-sided adrenalectomy. In case 2, bilateral adrenalectomy resulted in a fall in androstenedione. In both cases plasma testosterone (Test) and DHAS remained undetectable or low throughout.
|Case||Adrenalectomy date||Cortisol (nmol/l)||ACTH mU/l (<20)||A nmol/l (<2)||Test nmol/l (<0.8)||DHAS umol/l (<2)|
|Table 1: Pre- and Post-adrenalectomy, left (L) and right (R), biochemical findings (normal reference range).|
Conclusion: The association of increased levels of androstenedione in PPNAD has not been previously reported. The mechanism by which androstenedione is elevated in PPNAD is unclear and requires further investigation.
05 - 07 Nov 2008
British Society for Paediatric Endocrinology and Diabetes