hrp0095rfc6.6 | Sex Development and Gonads | ESPE2022

Differently Normal: Making sense of Adolescent Perspectives of Early Childhood Experiences associated with Congenital Adrenal Hyperplasia (CAH)

Siese Thomas , Alderson Julie , Hickingbotham Hannah , Hawton Katherine , Skae Mars , Crowne Elizabeth

Background: There is limited reporting of the impact of genital difference on early childhood experience, although the young person’s viewpoint should be at the core of patient centred clinical decision making. The experience of girls living with Congenital Adrenal Hyperplasia (CAH) may differ according to context, being influenced by interactions within the family, with specialist teams as well as prevailing social values. Clearly there is a need to inv...

hrp0095p1-456 | Diabetes and Insulin | ESPE2022

Outmoded by Mody? A Case Report of HNF1A-Mody in Paediatric Stroke

Siese Thomas , Hickingbotham Hannah , Eggers Anne , Alins-Sahun Yolanda , Bowen Philippa , Hamilton-Shield Julian

Background: The association between HNF1A-MODY and vascular complications including stroke has previously been identified in adults but to date there have been no reported paediatric cases published.Description: We present the case of an Eritrean 13-year-old girl, who was admitted with an acute ischaemic stroke, on a background of Diabetes Mellitus (Presumed Type 1) diagnosed the previous year. Aside from being on multip...