Pseudohypoparathyroidism during pregnancy can lead to challenging calcium fluctuations and can lead to maternal and foetal morbidity. There are limited case reports and no established management guidelines. Maintaining calcium level in healthy range during pregnancy is required to minimise the risks of associated complications. We report a case of Pseudohypoparathyroidism type 1a in 30 year old lady, who was initially referred to us by her general physician with calcium, of 1.63 mmols/l, raised phosphate levels of 1.71 mmols/l and raised parathyroid hormone; she volunteered the symptoms of feeling non-specifically tired for few years, and it was only over the last few months that she had experienced carpo-pedal spasm and symptoms that would relate specifically to hypocalcaemia. On examination she had a short stature, rounded face and a short 5th metacarpal; all indicating pseudohypoparathyroidism type 1a. She had no evidence of subcutaneous calcification and the rest of the examination was unremarkable. She was referred for genetic counselling and was started on Alfacalcidol and Sandocal to improve her symptoms, MRI brain was arranged as she mentioned balance issues which revealed symmetrical pathological mineralisation of the globi pallidi, heads of caudate nuclei and cerebellar dentate nuclei. In due course she conceived spontaneously and maintaining calcium in optimum range became even more challenging then pre-conception. Her Alfacalcidol was increased to 1.5 μg BD. She was seen in joint endocrine anti-natal clinic and was found to have high blood pressure and her USS revealed polyhydramnios and had to be given IV Calcium Gluconate to optimise the calcium levels, despite fluctuating calcium levels she delivered a healthy female baby at term but her calcium was ever so resilient it plummeted to 1.58 mmols/l two months after delivery, despite being non-lactating mother. Her Alfacalcidol was increased to 1.5 μg TDS in order to raise the serum calcium. This case highlights the implications of mothers conditions on developing foetus and re-emphasises the importance of close monitoring not only during pregnancy but also in post-partum period and necessitates the genetic workup of new born.
16 - 18 Apr 2018
Society for Endocrinology