Searchable abstracts of presentations at key conferences in endocrinology

ea0070aep853 | Reproductive and Developmental Endocrinology | ECE2020

A case of swyer syndrome

ElHaddad Hemmat , El Meligy Amr , Amin Samar , Salam Randa

Introduction: Swyer syndrome is caused by abnormal sex differentiation during the embryonic period, resulting in incomplete intrauterine masculinization and undifferentiated gonads associated with a 46, XY karyotype in phenotypic females. They have normal female external genitalia and underdeveloped female internal genitalia. Such patients usually present with primary amenorrhea and delayed puberty but can also have gonadal tumors as adults. The exact incidence is unknown. The...

ea0063p300 | Reproductive Endocrinology 1 | ECE2019

Bardet-Biedl syndrome in two siblings: a rare entity

Al Salam Randa Abd , El Meligy Amr , Attia Waheed , Salam Randa

Introduction: Bardet–Biedl syndrome (BBS) is a rare genetic ciliopathy with a prevalence of 1 in 160,000 in Europeans and 1 in 13,500 in some Arab populations The primary clinical features of BBS include retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning difficulties, and hypogonadism. Traditionally, BBS is clinically diagnosed when a patient shows 4 primary featuresCase report: 17 year old male, single, worker, presented...

ea0063p341 | Thyroid 1 | ECE2019

Hashimotos encephalopathy in Graves’ disease

Al Salam Randa Abd , El Hadad Hemmet , Radwan Mona , El Meligy Amr , Galal Mai , Salam Randa

Introduction: Hashimoto’s encephalopathy is a neurological disorder of unknown cause associated with thyroid autoimmunity. It is easy to misdiagnose or overlook and the symptoms frequently lead to mistaken neurological diagnoses. The disease may present in two types – a sudden vasculitic type or a progressive subacute type associated to cognitive dysfunction, confusion and memory loss.Case report: A 34 year old male presented to our emergency d...