Searchable abstracts of presentations at key conferences in endocrinology

ea0090ep213 | Calcium and Bone | ECE2023

Autoimmune hypocalciuric hypercalcaemia: A diagnostic dilemma

Omer Tahir , Suareldahab Ibrahim , Hamed Rama

Introduction: Hypercalcaemia is a relatively common medical condition affecting around 1% of the general population. Around 90% of the cases are due to either primary hyperparathyroidism (PHPT) or malignancy. Familial hypocalciuric hypercalcaemia (fHH) is a rare autosomal dominant condition that can result in hypercalcaemia. It has an estimated prevalence of1 in 78 000. In most of the cases, fHH is due to a mutation in the calcium-sensing receptor gene (CaSR). Other rare cases...

ea0090p183 | Reproductive and Developmental Endocrinology | ECE2023

Misdiagnosis of 46, XY DSD in a childhood Bone Marrow Transplantation survivor

Thayyil Sheena , Hamed Rama , Omer Tahir , Prouten Jennifer

Introduction: Endocrine late effects can manifest in hemopoietic stem cell transplantation survivors who were exposed to myelosuppressive conditioning treatment. These include dysfunction of the hypothalamic/pituitary, thyroid, and gonads leading to premature ovarian insufficiency and primary amenorrhoea. In addition, metabolic dysregulation and increased risk of diabetes have been observed in these patients. The investigation for primary amenorrhoea in this condition can rare...