Endocrine Abstracts (2008) 17 P25

Androstenedione as a marker of disease activity in primary pigmented nodular adrenal dysplasia (PPNAD)

A Mason1, DST Boyd1, RJ Perry1, SC Wong1, AM Wallace2, I Hunter3, SF Ahmed1 & MG Shaikh1

1Department of Child Health, Royal Hospital for Sick Children Glasgow, Yorkhill, Glasgow, UK; 2Department of Clinical Biochemistry, Glasgow Royal Infirmary, Glasgow, UK; 3Department of Paediatric, Wishaw General Hospital, Glasgow, UK.

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.

CaseAdrenalectomy dateCortisol (nmol/l)ACTH mU/l (<20)A nmol/l (<2)Test nmol/l (<0.8)DHAS umol/l (<2)
1L 15/03/04Pre708<<0.8
R 16/02/06Post4910<1.4<0.5<0.8
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.

Article tools

My recent searches

No recent searches.