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.
| Case | Adrenalectomy date | Cortisol (nmol/l) | ACTH mU/l (<20) | A nmol/l (<2) | Test nmol/l (<0.8) | DHAS umol/l (<2) | |
| 1 | L 15/03/04 | Pre | 708 | <3.0 | 13.9 | 0.6 | <0.8 |
| R 16/02/06 | Post | 49 | 10 | <1.4 | <0.5 | <0.8 | |
| Pre | 632 | <1.0 | 9.1 | <0.5 | <0.8 | ||
| Post | 35 | 24 | <1.4 | <0.5 | <0.8 | ||
| 2 | L+R | Pre | 756 | <1.0 | 7.3 | <0.5 | <0.8 |
| 26/06/08 | Post | 695 | NA | <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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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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