ISSN: 2578-4641
Authors: Rangel MA*, Santos M, Campos RA, Leite AL and Marques JS
Patients with Pseudohypoparathyroidism 1a (PHP-1a) have a typical phenotype, described for the first time by Albright, and therefore called Albrights Hereditary Osteodistrophy (AHO). It is characterized by a round face, flat, wide and low nasal bridge, short neck, obesity, short stature, subcutaneous calcifications and skeletal abnormalities (genu valgum, cubitus valgus, brachydactyly of the 4th and 5th fingers). We presented a case of a 2-month old boy with coarse face (macroglossia, flat, wide and low nasal bridge, pre-auricular pitts), disproportionately short lower limbs and umbilical hernia. Blood test showed TSH :11.7U/mL, Parathyroid hormone (PTH) was 329.20pg/mL, serum calcium 10.3mg/dL and phosphorus 7.1mg/dL. The diagnosis was confirmed with the identification of an inactivating mutation of the GNAS gene on the 20 chromosome (c.1096G>A). We started treatment with oral calcium, calcitriol and levothyroxine. Because of recurrent intense headache, with multiple emergency department visits, he underwent computer tomography that revealed typical images of basal ganglia calcification. Currently with 15 years old, he has typical AHO phenotype.
Keywords: Pseudohypoparathyroidism; Chromosome; Hormone; Obesity
