ESPE Abstracts

Familial hypomagnesemia with secondary hypocalcemia (FHSH) is a rare autosomal recessive disorder (OMIM# 602014) caused by mutations in the gene encoding TRPM6 (Transient receptor potential melastatin 6) on chromosome 9q22. This channel causes epithelial absorption of magnesium in the colon and renal distal convoluted tubule. Fewer than 100 cases have been reported in literature. A four year old girl had presented to us with tetany lasting for 30 minutes. Detailed history reve...

Introduction: McCune Albright Syndrome consists of at least 2 of the following 3 features: (1) polyostotic fibrous dysplasia (PFD), (2) Café au lait macules and (3) autonomous endocrine hyperfunction (eg, gonadotropin-independent precocious puberty). Other endocrine syndromes include hyperthyroidism, acromegaly, and Cushing syndrome.Case: 2 year old girl presented with severe hip pain, inability to walk and progressive deformity of right lower limb....