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<3.013.90.6<0.8
R 16/02/06Post4910<1.4<0.5<0.8
Pre632<1.09.1<0.5<0.8
Post3524<1.4<0.5<0.8
2L+RPre756<1.07.3<0.5<0.8
26/06/08Post695NA<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.

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