Searchable abstracts of presentations at key conferences in endocrinology

ea0095p68 | Obesity 1 | BSPED2023

Case report: Potocki-lupski syndrome (PTLS) with obesity

Naghmuish Eiman , Clemente Marisa , Weerasinghe Kamal

Case report: Potocki-Lupski Syndrome (PTLS) with obesityEiman Naghmuish1, Marisa Clemente1, Kamal Weerasinghe11Department of Paediatrics, Wrexham Maelor Hospital, Betsi Cadwaladr University Health Board, The UK.Introduction: Potocki-Lupski syndrome (PTLS) is a rare genetic disorder affecting 1:20.000 people worldwide, it is caused b...

ea0095p129 | Gonadal, DSD and Reproduction 2 | BSPED2023

Kallmann syndrome: A FGFR1 mutation

Clemente Marisa , Naghmuish Eiman , Weerasinghe Kamal

Introduction: Kallmann syndrome (KS) is a developmental disorder characterised by hypogonadotropic hypogonadism and anosmia. 30% of cases are related with genetic causes, with FGFR1 mutations being identified in 10%. There are more than 140 FGFR1 gene mutations identified. We present a female patient with KS due to a FGFR1 mutation, where the presenting features included primary amenorrhoea and anosmia.Case description: ...