hrp0094p2-401 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Two sisters with primary hypergonadotrophic hypogonadism, pubertal progress and deletion of 61.5MB of Χq21.33q28 region

Dikaiakou Eirini , Vlachopapadopoulou Elpis Athina , Papoulidis Ioannis , Manolakos Emannouil , Vakaki Marina , Michalacos Stefanos

Objective: To present the novel finding of hypergonadotropic hypogonadism, pubertal progress and molecular alterations in two sisters with variable phenotype.Case Presentation: Two Greek sisters were investigated. The eldest was referred for investigation of short stature, at the age of 9 and 5/12 years. There was no positive family history for short stature. Physical examination revealed no dysmorphic features, and she was prepubertal according to Tanne...