Background: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder associated with isolated glucocorticoid deficiency. Melanocortin−2 receptor (MC2R), account for approximately 25% of FGD cases.
Case report: 3 year old girl presented with recurrent hypoglycaemic episodes from day 2 of life. She was a product of consanguineous family born with a birth weight of 2.3 kg. At birth she was found to be dark in complexion from birth. Hyoglycaemic convulsion was noted on day 2 of life. There after she had three more episodes of convulsions associated with hypoglycaemia. All three episodes were associated with respiratrory tract infections associated with wheezing where she required hydrocortisone treatment. She had delay in achieving gross motor mile stones. She was at +1 S.D. for her height and −1 S.D. for her weight. Her genitalia were of normal female. Bone age was 7 years at the chronological age of 3 years. Short synacthen test revealed inadequate cortisol response. 17 hydorxyprogestreron and dihydroepiandrostenedione sulphate levels were undetectable. Both renin and aldosterone levels were normal. Adrenocorticotropic hormone level was >1400 pg/ml. Karyotype was 46, XX. There were no clinical features to suggest Allgrove syndrome. Hydrocortisone replacement therapy was started after investigations. There were no facilities to obtain a genetic confirmation of the disease.
Conclusion: Possibility of MC2R mutation was considered due to advanced bone age together with glucocorticoid deficiency. Her diagnosis could have been considered at birth itself when she presented with hypoglycaemia together with dark complexion. Hydrocortisone treatment saved the child with acute episodes. Cortisol deficiency has to be excluded when children present with recurrent hypoglycaemia.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology