Abstract

Familial Glucocorticoid Deficiency (FGD) is a rare autosomal-recessive disease. Tall stature and advanced bone age have been reported among clinical symptoms. This is a report of a 5 year-old girl who was admitted to the Rheumatology Ward of Bahrami Children’s Hospital for prolonged hallux valgus and lateral deviation of the hand fingers. Physical examination showed generalized hyperpigmentation and tall stature and the patient was in the pre-pubertal stage. The cortisol level was lower than normal while the ACTH level was above the normal limits. A hand X-ray showed a bone age of 9 years and 6 months .Whole exome sequencing revealed homozygous mutation of the MC2R gene . Endocrine disorders should be considered in cases with uncommon childhood skeletal manifestations.

Keywords: Hallux Valgus; Hyperpigmentation; Tall stature; Glucocorticoid deficiency