BSPED2013 Poster Presentations (1) (89 abstracts)
Reliability of diagnostic tests for paediatric Cushing's syndrome
Maria Güemes 1 , Phil Murray 2 , Caroline Brain 1 , Catherine Peters 1 , Helen Spoudeas 2 , Peter Hindmarsh 2 & Mehul Dattani 3
1Great Ormond Street Hospital for Children, London, UK; 2University College London Hospital, London, UK; 3Institute for Child Health, London, UK.
Introduction: Cushing’s syndrome is a rare and life-threatening paediatric disease, the diagnosis of which can be challenging given its heterogeneous clinical presentation and the investigation results which are frequently inconclusive.
Aim: To assess the reliability of the tests used for screening and for establishing the aetiology of Cushing’s syndrome.
Design: We conducted a retrospective study analyzing cases of Cushing’s syndrome that presented between 1983 and 2013 at two tertiary hospitals. Clinical, biochemical and radiological features are described.
Results: The study cohort included 30 patients (14 females) with a median age at presentation of 8.9 years (range 0.2–15.5) and a delay between onset of symptoms and diagnosis of 1.0 year (range 0.04–6). The most common presenting manifestations were weight gain (23/30), hirsutism (17/30) and acne (15/30). Other clinical features included psychological symptoms (13/30), weakness (12/30), growth retardation (11/30) and systolic hypertension (8/30). Median BMI SDS at presentation was +2.27 (range −6.5 to +4.6).
The table lists the investigations undertaken and their performance.
Urine Steroid Profile showed increased output of glucocorticoid metabolites in 20/30 (67%) patients and BIPPS was useful in the diagnosis of five cases of Cushing’s disease and in one ectopic tumour.
All of the patients underwent surgery and final diagnosis were: 16 pituitary ACTH secreting adenomas, 11 primary adrenal diseases, two ectopic ACTH secretion and in one case the aetiology remains unknown. Complications included hormone deficiencies (28/30; including transient and persistent), incomplete resection (4/30), deep venous thrombosis (1/30), septic shock (1/30), CSF leak (1/30), chylous effusion (1/30), relapse (5/39) and second tumour (1/30).
| Abnormal n (%) | Mean (S.D.) | Additional information | |
| Urine free cortisol (nmol/24 h) | 17/18 (94) | 3314 (7116) | |
| 0800 h cortisol (nmol/l) | 10/27 (37) | 740 (557) | |
| 0800 h ACTH (ng/l) | |||
| Pituitary tumours | 7/13 (54) | 48 (40) | |
| Adrenal tumours | 8/10 (80) | 14 (21) | |
| Ectopic ACTH | 1/2 (50) | 45 (8) | |
| Midnight cortisol (nmol/l) | 27/27 (100) | 661 (550) | |
| Midnight ACTH (ng/l) | |||
| Pituitary tumours | 5/10 (50) | 40 (26) | |
| Adrenal tumours | 6/7 (85) | 22 (36) | |
| Ectopic ACTH | 2/2 (100) | 66 (20) | |
| 24-h cortisol profile (mean value nmol/l) | 555 (217) | ||
| LDDS +48 h (nmol/l) (20 μg/kg per day only) | 20/20 (100) | 620 (369) | Suppression means cortisol at +48 h <50 nmol/l |
| HDDS +48 h (nmol/l) (80 μg/kg per day only) | Failure of suppression: | Suppression means cortisol at +48 h <50% of basal value | |
| Pituitary tumours | 1/10 (10) | ||
| Adrenal tumours | 6/6 (100) | ||
| Ectopic ACTH | 1/2 (50) | ||
| CRH test | Rise in ACTH of cortisol | Response if: cortisol ↑ >20% ±ACTH ↑ >50% | |
| Pituitary tumours | 8/9 (89) | ||
| Adrenal tumours | 0/1 (0) | ||
| Ectopic ACTH | 1/2 (50) |
Conclusion: Screening tests showed high sensitivity, with Urine Free cortisol, midnight cortisol and LDDS presenting the best performances. HDDS and CRH test reliably distinguished between pituitary and adrenal disease but performed less well in cases of ectopic ACTH secretion.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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