Exp Clin Endocrinol Diabetes 2015; 123 - P01_06
DOI: 10.1055/s-0035-1547620

An 11.5 year old boy with Cushing's disease. A diagnostic challenge

IA Vasilakis 1, A Koerner 2, M Preuß 3, FW Hirsch 4, J Kratzsch 5, W Kiess 6, R Pfäffle 7
  • 1Kinderklinik Universitätsklinikum Leipzig
  • 2Universitätskinderklinik Leipzig; Zentrum für Pädiatrische Forschung; Zentrum für Pädiatrische Forschung Leipzig
  • 3Paediatric Radiology, Department of Diagnostic and Interventional Radiology, University Hospital Leipzig; Paediatric Neurosurgery, Department of Neurosurgery, University Hospital Leipzig; Paediatric Neurosurgery, Department of Neurosurgery, University Hospital Leipzig
  • 4Abteilung für Kinderradiologie des Universitätsklinikums Leipzig
  • 5Institute of Laboratory Medicine, Clinical Chemistry and Molecular Diagnostics; University of Leipzig
  • 6University of Leipzig; Hospital for Children & Adolescents; Hospital for Children & Adolescents
  • 7Paediatric Department, University Hospital Leipzig

Background: Cushing disease (CD) designates pituitary (ACTH dependent) hypercorticolism and although it is rare it constitutes the most common aetiology of hypercorticolism in prepubertal children. With an incidence of 2 – 5 new cases/106 persons/year, of which only 10% occur in children and mostly in boys, the paediatrician rarely encounters the problem.

Clinical presentation: We describe an 11.5 year old boy with obesity, weight gain in the last 2 years and growth deceleration in his target-height range, who was presented in our paediatric obesity outpatients' clinic.

History: He was referred to our day clinic for OGTT. In the last 7 months he complained of fatigue and headaches during the last month. He stated that “he had lost his joy for life”. He performed well at school, however he stopped playing football. No corticoid medication was reported.

Clinical examination: Tanner stages: P4, G1, testicular volume: 3 ml, discreet acanthosis nigricans nuchal, moon-face, no hirsutism or striae distensae.

Height: 143.7 cm (P24.2), in the last 2 months growth arrest. Weight: 50.75 kg (P87.9), BMI: 24.58 (P96.5), HR 83/min, BP: 124(P95-P99)/76(P90-P95) mmHg.

Laboratory findings: Insulin resistance in OGTT

Hypercorticolism confirmation

  • Overnight 1 mg DST: 939.4(+) → 512.2(+)nmol/l (ACTH dependent CS)

  • 24h- UFC: 1633(+), 682(+), 624(+)nmol/24h,

  • Midnight salivary cortisol 17.1(+), 14.4(+)nmol/l

  • Midnight serum cortisol: 390.3(+)(awake)nmol/l, ACTH 15.1 pmol/l

  • 24h- urine steroid profile (GC/MS) non-confirmatory

Endocrinological localisation

  • Overnight 8 mg DST: Cortisol 363.1 → 54.6 nmol/l (CD likely)

  • CRH- test: ACTH 8.16 → 19.67 pmol/l, Cortisol 363.1 → 763.1nmol/l (non-ectopic CS)

Radiological findings:

Bone age (G&P): 12 years

1,5 Tesla Brain- MRI: normal

3 Tesla Brain- MRI: 3.5 mm microadenoma in the anterior pituitary

Conclusion: CS presentation in children differs from adult patients and diagnostic work-up hides several pitfalls.