CLINICAL CHARACTERISTICS OF CHILDREN WITH HYPOPARATHYROIDISM DUE TO 22Q11.2 MICRODELETION

The phenotypes of chromosomal 22q11.2 microdeletion are quite variable among individuals and hypoparathyroidism (HP) constitutes a definite portion of the clinical spectrum. For the correct diagnosis and pertin ent follow up of the HP children due to del22q11.2, we tried to deline ate the clinical characteristics of such patients. By employing fluore scence in situ hybridization (FISH) to all the patients diagnosed as H P in our clinic, ten possessed the 22q11.2 microdeletion. Among them, the incidence of cardiac defect (5/10), recurrent infection (1/10) and cleft palate (1/10) was modest. Additionally, seven of them had been diagnosed as HP during the infantile period, when their facial abnorma lity and intellectual problem had not become evident. Notably, two pat ients were complicated by Graves disease, while the association of idi opathic thrombocytopenic purpura was also observed in two girls. Concl usion HP due to del22q11.2 may be misdiagnosed as idiopathic, especial ly in an infant who lacks apparent complications like cardiac anomaly. They should be closely followed up for auto-immune complications.