Dr Natassia Rodrigo
Nepean Hospital 


Title: Familial Hypocalciuric Hypercalcaemia in Pregnancy
Rodrigo, Natassia1, Park, Kris2
1Endocrinology Advanced Trainee, Nepean Hospital, Kingswood NSW, Australia
2Endocrinologist, Nepean Hospital, Kingswood NSW, Australia

Introduction: Familial hypocalciuric hypercalcaemia (FHH), benign outside of gestation, becomes potentially life threating for a neonate born to an affected mother as it can cause neonatal hypocalcaemia, seizures and tetany1. Thus, it is an important condition to recognise in pregnancy.

Case: A 26 year old, Gravida 3, Para2, lady presented for review at 11 weeks gestation, with asymptomatic hypercalcaemia of 2.91mmol/L (2.13-2.63) and parathyroid hormone (PTH) level of 3.6 pmol/L (1.0-6.8). She had a background history of FHH, confirmed by genetic testing and a family history of 8 affected members. During her first pregnancy her calcium levels ranged from 2.9 - 3.09 mmol/L with PTH between 1.1- 2.3pmol/L. She underwent emergency caesarean section due to failure to progress at 41 weeks gestation. She delivered a healthy boy who was normocalcaemic and unaffected on genetic testing. In her second pregnancy, her calcium ranged from 2.92- 2.97 mmol/L, with PTH 1.1-4pmol/L. She underwent elective caesarean at 39 weeks gestation and delivered a healthy girl, whose calcium was 3.08mmol/L (1.75-2.99). Subsequent genetic testing confirmed her inheritance of FHH.  This pregnancy she will undergo monitoring of her calcium levels. Upon delivery, the neonate will undergo calcium monitoring and genetic testing.

Discussion: FHH is an autosomal dominant condition caused by inactivating mutations of the calcium sensing receptor2. 50% of foetuses will be affected and have asymptomatic hypercalcaemia. Unaffected foetuses risk foetal parathyroid suppression from maternal hypercalcaemia, with complications including seizures described1


1. 1.Cooper, Mark. (2011). Disorders of calcium metabolism and parathyroid disease.Best Pract Res Clin Endocrinol Metab. 25(6):975-83.
2. Christensen, Signe et al. (2011). Familial hypocalciuric hypercalcaemia: a review. Curr Opin Endocrinol Diabetes Obes.  18(6):359-70.