Endocrine Abstracts

Background: ‘H’ syndrome is a rare autosomal recessive disorder characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, hypogonadism, hyperglycaemia (insulin-dependent diabetes), hallux valgus and low height (short stature) and systemic inflammation. Caused by mutations in SLC29A3 gene located on chromosome 10q23 which encodes the human equilibrative nucleoside transporter 3 (hENT3). We report this case to highlight the rarity of the Syn...