Searchable abstracts of presentations at key conferences in endocrinology

ea0066p3 | Adrenal, Gonadal, DSD and Reproduction, and Basic Science | BSPED2019

Non classical congenital adrenal hyperplasia presenting with a severe salt losing crisis

Kwong Ruth Ming Wai , Gan Hoong-Wei , Pitkin Sarah , Dawnay Anne , Hughes Claire

Introduction: Non-classical congenital adrenal hyperplasia (NCCAH) is a common autosomal recessive disorder characterized by androgen excess. It classically presents in later life with symptoms of acne, hirsutism, and premature adrenarche. This case illustrates a rare case presentation of NCCAH in early infancy.Clinical case: An 18 day old term male infant was brought to the A&E for 9% weight loss. On review he was mottled, but otherwise examination ...

ea0038p163 | Neoplasia, cancer and late effects | SFEBES2015

Metastatic paraganglioma with isolated 3-methoxytyramine rise in a patient with SDHC mutation

Alkrekshi Akram , Abhayaratna Sachit , Pitkin Sarah , Dawnay Anne , Baldeweg Stephanie E

59-year-old gentleman with known succinate dehydrogenase complex subunit C (SDHC) gene mutation attended endocrine clinic with non-specific symptoms. Past medical history included glomus jugulare paraganglioma (PGL) surgically treated (1993, 2003) with residual disease, macroprolactinoma treated with cabergoline since 2010, and BPH treated with finasteride and tamsulosin. His brother has glomus vagale. Clinical examination was unremarkable. Plasma metanephrine ranged between 3...