I CONGRESO DIGITAL AEP. Libro de comunicaciones y casos clínicos

219 ISBN: 978-84-09-24491-1 ÁREA DE ESPECIALIDAD • ENDOCRINOLOGÍA ASOCIACIÓN ESPAÑOLA DE PEDIATRÍA CASOCLÍNICO. Pseudohypoparathyroidism type ia: two clinical cases Jessica França Sousa, Madalena Meira Nisa, Mafalda Ferreira Santos, Dora Gomes., Isabel Verdelho Andrade Centro Hospitalar Tondela Viseu, Viseu, Portugal INTRODUCCIÓN Pseudohypoparathyroidism includes a hetero- geneous group of rare diseases characterized by resistance to the parathyroid hormone (PTH). Pseu- dohypoparathyroidism type Ia (PHPIa) is the most frequent form and is associated with the phenotypic characteristics of Albright´s hereditary osteodystro- phy (short stature, obesity, round facies, brachydac- tyly, development delay). An early identification of PHPIa is important, especially before the deve- lopment of hypocalcaemia and it´s complications (tetany, seizure, increased bone remodelling). The authors present 2 cases of this disease that are fa- mily related. RESUMEN DEL CASO Case 1: Five-years-oldmale, first child of non-consan- guineous parents, mother with PHPIa, hypothyroi- dismand epilepsy. A gestational and neonatal period without complications. History of bilateral congeni- tal hip dislocation and adduct left foot. A molecular study of GNAS gene was done, confirming the family mutation and the diagnosis of PHPIa. The analytic control performed at 18months showed an elevation of PTH, normal serum levels of calciumand phospho- rus (PTH 480,0pg/ml; calcium4,9mEq/L; phosphorus 5,4mg/dl), elevation of TSH and normal freeT4 (TSH 8,3mUI/L; freeT4 1,0ng/dl). Subsequent analytic con- trols revealed ascending PTH and TSH. Case 2: Four-years-old male, referred in the neo- natal period due to congenital hypothyroidism. Sec- ond child of non-consanguineous parents, mother with PHPIa and hypothyroidism, cousin of the first case. Gestational period without complications. In the neonatal period he was diagnosed with transient tachypnoea of the newborn and congenital hypo- thyroidism, having started levothyroxine 6,25mcg/ day. The analytic control performed at 12 months showed an elevation of PTH, normal serum levels of calciumand phosphorus (PTH 109,10pg/ml; calcium 5,0mEq/L; phosphorus 5,3mg/dl), normal TSH and freeT4. Subsequent analytic controls with ascending PTH. The molecular study for de GNAS gene wasn´t performed. During follow up of both, a delay of psychomo- tor development and some physical characteristics (round facies, macrocephaly, hypertelorismand obe- sity) were noticed. Now, theymaintain regular follow- up in physiotherapy, occupational, speech therapy and maintain treatment with vitamin-D. CONCLUSIONES Y COMENTARIOS The PHPIa is an autosomal dominant disease and maternal transmission of GNASmutation is required. In addition to resistance to PTH there is frequently resistance to other hormones, such as TSH. Clinical manifestations are variable and develop progres- sively. Many patients remain asymptomatic for many years, with normal levels of calcium and phospho- rus, as seen in both cases. It is known that an early diagnosis, monitoring and adequate treatment are crucial to prevent complications. The molecular study is also important for clinic and genetic coun- selling.