Endocrine Abstracts

Background: Paediatric Cushing’s Disease (CD) is rare, and symptoms are variable, resulting in delayed diagnosis, prolonged morbidity, and psychological impact.

Case Series: We present three adolescents with CD highlighting challenges in diagnosis.

• Case 1: A 13-year-old girl with coeliac disease was reviewed for stalled puberty, possible hirsutism and poor growth despite higher weight. Turner syndrome was excluded by karyotype but raised DHEAS (15.8umol/l) noted. Three significantly elevated urinary cortisols and unsuppressed cortisols on overnight- (ONDST) and 48hour-dexamethasone suppression confirmed CD. Pituitary MRI was initially inconclusive, but inferior petrosal sinus sampling (IPSS) suggested right-sided ACTH production. Treatment with metyrapone began whilst clarification of lateralisation occurred, before transsphenoidal resection. Despite initial fall in ACTH/cortisol there is evidence of relapse and metyrapone treatment has re-started, with PET imaging pending.

• Case 2: A 17-year-old male with obesity developed hyperglycaemia with raised HbA1c (resolved with lifestyle changes) alongside COVID pneumonitis (aged 15 years), hypertension, and metabolic-associated steatotic liver disease (MASLD). Weight gain initially coincided with increased snacking, but persisted despite lifestyle changes. Examination revealed acanthosis nigricans and round facies. Further investigations due to persistent symptoms found raised urinary cortisol and failure to suppress cortisol on ONDST. Pituitary MRI identified right sided microadenoma. Retrospective questioning revealed stalled growth (age 13); examination revealed 2ml testes and small penis. MEN1 was suspected (but excluded) (hyperparathyroidism and raised glucagon). Imaging excluded ectopic ACTH and pancreatic tumour. Transsphenoidal surgical resection 9 months after diagnosis found ACTH-secreting adenoma (histologically) and was curative, with subsequent resolution of symptoms.

• Case 3: A 14-year-old boy presented, initially in private practice as not fulfilling the criteria for Complications of Excess Weight (CEW) clinic, with short stature, central obesity, facial plethora, increased body hair and no striae. Elevated urinary cortisol and unsuppressed cortisols on ONDS and 48hour-dexamethasone suppression confirmed CD MRI showed a 4.5 mm left-sided microadenoma and he recently had an IPSS.

Conclusion: A high index of suspicion is essential to diagnose Cushing’s disease (CD) in adolescents, as the underlying symptoms vary. Early endocrine referral and coordinated diagnostic pathways are critical to reduce delay in investigation, reducing long-term complications, and improving patient outcomes.