A 27 year old, Caucasian female was admitted with vomiting and found to have severe hypocalcaemia. On clinical examination she had a normal stature, oval face; she was not brachydactylic and did not have dental hypoplasia. Biochemically she had serum Ca of 1.49 mmol/l (2.152.50), a high serum Phosphate of 1.50 mmol/l (0.91.45) and Vitamin D levels of 59 nmol/l (>50 sufficient for majority population). Her serum parathyroid hormone was elevated at 304.5 ng/l (1565). She had a 24-h urine collection which showed a urine creatinine of 9.46 mmol/l (318), Urine Calcium 0.42 mmol/l, 24-h Urine Calcium of 0.3 mmol/d (07.5) and Calcium/Creatinine ratio of 0.04 mmol/mmol. She was treated with IV calcium infusion and diagnosed as Pseudo hypoparathyrodism. On taking a further history we find out that she had symptoms of severe hypocalcaemia including perioral paraesthesia, numbness/tingling in the fingers, severe muscle cramps. Her mother had taken her to GP severally since the age of 9 with symptoms of severe hypocalcaemia, when her arms will go in a spasm, with tingling around her mouth and opthalmoplegia. She was advised to be fed sugary drinks and was told this was due to low blood sugars and that she has a squint at times. She had no other medical problems, no family history and not found to have developmental delay. The first time she had her blood tested was age 21, two weeks after her son was born when she presented to ED as she was unable to cope at home due to severe muscle cramps and lethargy. On that occasion she was discharged home with oral calcium tablets. From age 2127 she was seen in ED six times, admitted for IV calcium infusion twice. Three years since diagnosis she continues under endocrine follow up and is being treated with Calcichew D3 and Alfacalcidiol. She is now age 30 and the management of her hypocalcaemia remains a challenge. With oral therapy we have been unable to achieve serum calcium above 1.80 mmol/l despite being Vitamin D replete. She is asymptomatic when her serum calcium levels are between 1.6 and 1.8 mmol/l. She is now also hypothyroid Free T4 11.1 pmol/l (12.022.0) and TSH 9.95 miu/l (0.274.20) thyroid antibodies are awaited. She is waiting genetic testing.
16 - 18 Apr 2018
Society for Endocrinology