Searchable abstracts of presentations at key conferences in endocrinology

ea0065p127 | Bone and calcium | SFEBES2019

Severe hypercalcaemia and acute kidney Injury in a patient with sarcoidosis

Whiles Emily , Joshi Hareesh , Perumalthiagarajan Arun P , Mohammed Amina , Oyibo Samson O , Sagi Satyanarayana V

Introduction: Sarcoidosis is a multisystem granulomatous disorder. It commonly causes mild hypercalcemia in up to 10–20% of the cases and renal involvement can be a feature. Presentation with severe symptomatic hypercalcaemia (>3.5 mmol/l) and acute kidney injury is rare. We present an interesting case.Case: A 58 year old female was referred to the emergency department by her general practitioner with a one month history of polyuria, generalised wea...

ea0065p359 | Reproductive Endocrinology and Biology | SFEBES2019

Normosmic idiopathic hypogonadotrophic hypogonadism in two homozygous siblings with a familial novel GnRH1 gene mutation

Joshi Hareesh , Whiles Emily , Puthi Vijith , Oyibo Samson O , Sagi Satyanarayana V

Introduction: Idiopathic hypogonadotrophic hypogonadism (IHH) with normal sense of smell is a complex and rare disease entity characterised by insufficient gonadotropin releasing hormone (GnRH) neuronal action on an intact hypothalamo–pituitary–gonadal axis. IHH has an incidence of 1–10 in 100 000 live births with a variable mode of inheritance and five-fold male predominance. Gene mutations have been discovered of which 10–40% of the familial cases are due...