Searchable abstracts of presentations at key conferences in endocrinology

ea0045p71 | Thyroid | BSPED2016

Thyrotoxicosis: A rare paediatric endocrine manifestation of chromosome 2q37 deletion

Losa Ignatius , Aman Nosheen

Albright hereditary osteodystrophy-like (AHO-like) syndrome is a rare syndrome characterized by features including distinctive dysmorphism, developmental delay and short stature. The 2q37 locus is the commonly deleted subtelomeric region. Individuals may have either pseudohypoparathyroidism (PHP), with end organ resistance to PTH and certain other cAMP dependent hormones, or pseudopseudohypoparathyroidism (PPHP) with normal hormone responsiveness.Autoimm...