Report the case of a 9-year-old girl with special education needs, who consults for neuro-cognitive symptoms, short stature, brachydactyly and obesity. The diagnosis was made on the basis of pathognomonic imaging findings and laboratory tests showing hypocalcemia, hyperphosphatemia and increased serum parathyroid hormone (PTH) levels. Due to the hereditary nature of this rare disease, it is important to say that her mother has a similar phenotype. Pseudohypoparathyroidism 1A it is a rare disease, an autosomal dominant familial metabolic disorder with a variable imprinting pattern and inheritance. Results from a specific deficiency of a subunit of stimulatory G protein, manifested by resistance to parathormone and a characteristic phenotype, referred to as Albright hereditary osteodystrophy (AHO). Read More

Meeting name: SPR 2024 Annual Meeting & Postgraduate Course , 2024

Authors: Innocente Natalia, Anoni Maria Clara, Galeano Monica, Lipsich Jose

Keywords: Albright hereditary osteodystrophy, Pseudohypoparathyroidism