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ea0039ep116 | Pituitary and growth | BSPED2015

GH deficiency and phenotypic features in four cases of 22q11.2 deletion syndrome

Kular Dalvir , Baker Joanne , Dattani Mehul

Background: 22q11.2 deletion syndrome (22q11DS) displays a wide phenotypic spectrum and is the most common deletion syndrome with an estimated incidence of one in 4000 children. Short stature is a phenotypic feature of the spectrum; uncommonly, GH deficiency (GHD) has been identified as a cause of short stature within this population.Patients and methods: We describe a case series of four 22q11DS patients with concurrent GHD that have been followed up in...