Background: Isolated ACTH deficiency is a very rare condition, there is only seven cases in the literature reported after infancy and the cause is still unknown.
Case study: We are reporting 11.5 years old Qatari boy who was known to have G6PD deficiency only and who presented with generalised tonic colonic seizure at the day of admission with history of fever, ear pain and discharge fatigue and excessive sleep, and vomiting for 4 days. He had fever (39C) and hypotensive 90/50 mmHg, heart rate=200 b/min, with progressive reduction of blood pressure. Exam revealed post- auricular tenderness suggestive of Mastoditis, no evidence of skin hyperpigmentation. His height SDS=1.5 and BMI=15 kg/m2. He had pubertal hair and testicular size corresponding to Tanner II.
Results: Investigations revealed recurrent hypoglycemia (BG=0.9, 1.7, 1.8 mmol/l) with normal renal and hepatic functions, and normal electrolytes (Na, K, Ca, PO4 and HCO3).). Random cortisol level was taken and was 3 nmol/l during hypoglycemia. Cortisol response to ACTH was assessed using back-to-back low dose- standard dose ACTH test (table 1) IGF1=117 ng/ml, TSH=4.9 mIU/l, fT4=13.5 pmol/l, renin=45.7 (NL 3-66 mU/l), aldosterone=213 (NL (111859) pmol/l). MRI of the brain with gadolinium enhancement revealed a small ill-defined hypo-intense focus within the right side of pituitary gland with no enhancement (small space occupying lesion).
Discussion: We are reporting a new case of this condition at with typical presentation of sever life threating hypoglycaemia, no hyperpigmentation or electrolytes abnormalities, and the evidence of low plasma ACTH and cortisol of 0 mcg/dl before and after ACTH stimulation test who will responded to hydrocortisone with total resolution of hypoglycemia. The child was started on PO hydrocortisone of 10 mg/m2 per day.The glucocorticoid replacement therapy resulted in total resolution of hypoglycaemia.
|Low dose ACTH||Standard dose ACTH|
|Time/min||0 min (basal)||30 min||60 min||90 min||120 min|
Summary: This is a rare case of isolated ACTH deficiency presented sever life threating hypoglycaemia well responded to hydrocortisone with finding of MRI pituitary changes.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology