SAT-LB67 Pseudohypoparathyroidism 1B Presenting in a Woman Aborting With Multiple Cerebral Calcifications

Abstract

Background. Pseudohypoparathyroidism is a heterogeneous condition characterized by hypocalcaemia and hyperphosphatemia as a result of the resistance of the target organ to parathyroid hormone (PTH) 1. It is classified into several different entities (1A, 1B, 1C AND 2) according to molecular and clinical causes. PHP1B has resistance to PTH, normal levels of Gsα activity and has no clear signs of hereditary Albright osteodystrophy (AHO) or other hormonal resistance. 2 Clinical case. A 26-year-old woman was admitted to the emergency service due to an abortion and severe hypocalcemia. Background: generalized tonic-clonic seizures and hypocalcemia for nine years without treatment. The physical exam showed Chvostek and Trousseau, and round face. Its height is 148 cm, weight 60 kg, BMI of 27 kg/m2, without clinical features of AHO. Analytics reported Calcium 4.6 mg / dl (8.5-10.5), βHCG 1795 mIU / ml (<10), PTH 206 pg / ml (15-65), phosphorus 7.35 mg / dl (2.5-4.9) Creatinine 0.57 mg / dl, magnesium 2.02 mg / dl, 25-OH-D3 29ng/ml (>30), TSH 4.2uUI /ml (0.27-4.20), Hb 10.6 mg/dl. A brain CT scan showed calcifications in the basal ganglia (thick annular), subcortical area (crescent) and cerebellar hemispheres. Renal and thyroid ultrasound without alterations. Radiographs of four limbs and skull found no radiological signs of AHO. Ophthalmologic evaluation revealed bilateral cataract.During hospitalization she underwent curettage, was treated with calcium gluconate, then calcium and calcitriol supplements. At follow-up, serum and urine calcium levels were monitored for optimal treatment. Conclusions. We report a patient with typical biochemical findings of PHP and in the absence of AHO it would be classified as 1B. The importance of early recognition and a mandatory multidisciplinary approach offer a better prognosis avoiding extensive brain calcifications, seizures and obstetric complications. The long-term treatment of hypocalcemia associated with resistance to PTH is similar but generally more aggressive than that of primary hypoparathyroidism. 1. Linglart A, Levine M, Juppner H. Pseudohypoparathyroidism. Endocrinol Metab Clin North Am 2018; 47: 865-888. 2. Mantovani G, Bastepe M, et al. Diagnosis and treatment of pseudohypoparathyroidism and related disorders: first declaration of international consensus. Nat Rev Endocrinol. 2018; 14 (8): 476-500.