Cushings disease (CD) is rare in childhood. There are well described cohorts of patients with classical features. However, given the rarity of CD, we feel it is valuable to share lessons learnt from the treatment of atypical cases.
Case 1: Thirteen-year-old male presented with Cushingoid features. Investigation indicated ACTH excess: 0900 h ACTH 20 pmol/l per cortisol 798 nmol/l; midnight cortisol 724 nmol/l. MRI demonstrated a pituitary macroadenoma (21×16×23 mm). Transsphenoidal adenomectomy (TSA) resulted in biochemical cure (0900 h cortisol <50 mmol/l on three consecutive days). Histology demonstrated a classical ACTH cell adenoma. Six months later GH and cortisol deficiency were diagnosed and treated with good effect: height+1.0 S.D., −1.8 BMI S.D. over 3 years. On a surveillance scan 3 years following surgery there was extensive tumour recurrence with cavernous sinus infiltration and internal carotid compression. There were no clinical or biochemical features of CD.
Case 2: Three-year-old female presented with rapidly progressive Cushingoid features. Biochemical investigations demonstrated ACTH excess: 09.00 h ACTH 12.9 pmol/l per cortisol 748 nmol/l, midnight cortisol 861 nmol/l, 24 h urinary free cortisol 3763 nmol/24 h (NR 50350). CRH test indicated pituitary disease. Treatment with metyrapone (250 mg od) was followed by a cortisol surge (increase in mean cortisol on five point day curve from 814 to 1779 nmol/l) and acute clinical deterioration. Control was achieved (mean cortisol 146260 nmol/l) on metyrapone 500 mg qds. TSA resulted in biochemical cure.
Conclusions: i) Pituitary macroadenomas can recur in the absence of clinical and biochemical features of CD. ii) Initiation of metyrapone can result in acute deterioration in CD as the adenoma escapes cortisol suppression resulting in an ACTH and cortisol surge.
09 - 11 Nov 2011
British Society for Paediatric Endocrinology and Diabetes