Abstract 34

Abstract

Introduction: Pseudohypoparathyroidism (PHP) is a heterogeneous group of rare endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone manifesting with hypocalcemia, hyperphosphatemia, and increased serum concentration of PTH. Albright’s hereditary osteodystrophy is unusual constellation of developmental and skeletal defects that include short stature, rounded face, shortened fourth metacarpals and other bones of the hands and feet, obesity, dental hypoplasia, soft-tissue calcifications/ossifications associated with pseudohypoparathyroidism. Case Report: We report a twelve year five months old female presented with complaints of seizures, carpopedal spasms with positive Chvostek’s and Trousseau’s sign. On biochemical evaluation the cause for the seizures was discerned to be due to hypocalcaemia. She was treated with calcium supplements and referred to us for further evaluation. She was a product of non-consanguineous marriage with normal birth and developmental history except for childhood obesity. She has two healthy siblings. On physical examination height was 135 cm (Ht SDS -2.3) weight was 35 kg (between 10th-25th centile). She had a round face, crowded dentition, bilateral broad thumb, and brachymetatarsia of 4th, 5th toes. SMR showed B2, A-, P1. X ray of limbs revealed bilateral short 4th, 5th metacarpals and metatarsals, broad and short 1st metatarsals. Bone age was between 12 to 13 years. Her baseline endocrine and biochemical values showed in the table below. She was treated with calcium supplements and calcitriol. On follow up, serum calcium levels and urinary calcium/creatinine were monitored to achieve good calcemic levels. Genetic analysis (Whole exam sequencing) showed heterozygous GNAS mutation in Exon 8 suggestive of Pseudohypoparathyroidism 1a. We also evaluated the parents biochemical and hormonal profile and found that they had normal thyroid function tests, normal FSH and LH levels, PTH, calcium, phosphate levels. Genetic analysis of parents found to be normal. Conclusion: This is a rare case presented with symptomatic hypocalcaemia, hyperphosphatemia with short fourth and fifth metatarsals, elevated PTH levels, hypothyroidism and radiological findings typical of AHO which is further confirmed by genetic analysis. This case thus presents as a rare case PHP 1a with AHO with multiple hormonal resistance with typical phenotypic expression.