Endocrine Abstracts

Introduction: H syndrome is a non-Langerhansian histiocytosis secondary to a mutation in the SLC29A3 gene encoding the nucleotide transport protein hENT3, It is a rare disease with a prevalence of 1 case 1,000,000 mainly characterized by hyperpigmentation, hypertrichosis and hepatosplenomegaly with endocrine manifestations including hypogonadism, short stature and insulin dependent diabetes mellitus. We report the case of a 20-year-old male who was admitted to our endocrinolog...