Searchable abstracts of presentations at key conferences in endocrinology

ea0033p52 | (1) | BSPED2013

46,XX pure gonadal dysgenesis with tall stature due to an Xq21.2 deletion

Narayanan Vidya K , Tolmie John , Donaldson Malcolm

Introduction: 46,XX gonadal dysgenesis without the phenotype of Turner’s syndrome is described as ‘pure’ and is not usually associated with other anomalies with the exception of the rare Perrault syndrome (46,XX-GD with sensori-neural deafness). We describe a girl in whom tall stature was a dominant feature.Case report: A girl was referred aged 15.6 years with primary amenorrhoea and slim build. Examination showed height 172.5 cm (+1.56 <s...