Endocrine Abstracts

A 25 year old lady was referred to the endocrine clinic after her newborn baby was noted to have respiratory problems, marked osteopenia and hypocalcemia. Further investigations on the mother showed corrected calcium of 1.11 mmol/L; however she was relatively asymptomatic. Reviewing her history in detail, she was born in Nigeria and moved to the UK 2 years prior to the presentation. She used to get intermittent cramps in her hands, legs and body since the age of 10 in addition to episodes described as ‘fits’. She was taking antiepileptics since the age of 12 without much benefit. Except for short stature there were no developmental problems. There was no relevant family history. This lady's calcium was never measured during pregnancy, despite her having history of seizure in pregnancy She did not have facial dysmorphism or brachydactyly; however there was evidence of shortened 4th and 5th toes. Further tests showed raised Parathyroid hormone level of 27.6 pmol/L (Calcium 1.11 mmol/L, Phosphate 2.18 mmol/L) confirming diagnosis of Parathyroid Hormone Resistance. She has been referred for genetic testing. CT scan of the brain showed marked bilateral basal ganglia calcification. DEXA scan revealed osteopenia of hip and spine. She is currently treated with Calcium supplements and Alfacalcidol aiming to keep corrected calcium at the low normal range. This case highlights the need for increased awareness of calcium levels testing on booking, particularly in some one who has epilepsy and short stature.

Declaration of interest: There is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.

Funding: No specific grant from any funding agency in the public, commercial or not-for-profit sector.