Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion

• Published in: European journal of pediatrics Vol. 157; no. 1; pp. 34 - 38
• Main Authors: ADACHI, M, TACHIBANA, K, SUWA, S, MASUNO, M, MAKITA, Y, MAESAKA, H, OKADA, T, HIZUKURI, K, IMAIZUMI, K, KUROKI, Y, KURAHASHI, H
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01.01.1998; Berlin Springer Nature B.V
• Subjects: Biological and medical sciences; Birth defects; Child; Child, Preschool; Children; Children & youth; Chromosome Deletion; Chromosomes; Chromosomes, Human, Pair 22; Cleft lip/palate; Cleft Palate - diagnosis; Cleft Palate - genetics; Diagnosis, Differential; DiGeorge Syndrome - diagnosis; DiGeorge Syndrome - genetics; Endocrinopathies; Female; Fluorescence in situ hybridization; Graves disease; Heart; Heart Defects, Congenital - diagnosis; Heart Defects, Congenital - genetics; Heart diseases; Humans; Hybridization; Hypocalcemia; Hypoparathyroidism; Hypoparathyroidism - diagnosis; Hypoparathyroidism - genetics; Idiopathic thrombocytopenic purpura; In Situ Hybridization, Fluorescence; Infant; Infant, Newborn; Male; Medical sciences; Non tumoral diseases. Target tissue resistance. Benign neoplasms; Phosphorus; Purpura; Recurrent infection; Retrospective Studies; Thrombocytopenic purpura; Thyroid. Thyroid axis (diseases); Japan; Endocrinopathy; Human; Chromosome G22; Infant; Concomitant disease; Phenotype; Newborn; Parathyroid diseases; Hypoparathyroidism; Deletion; Clinical investigation; Diagnosis; Child
• ISSN: 0340-6199; 1432-1076
• DOI: 10.1007/s004310050762

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 pertinent follow up of the HP children due to del22q11.2, we tried to delineate the clinical characteristics of such patients. By employing fluorescence in situ hybridization (FISH) to all the patients diagnosed as HP 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 abnormality and intellectual problem had not become evident. Notably, two patients were complicated by Graves disease, while the association of idiopathic thrombocytopenic purpura was also observed in two girls. HP due to del22q11.2 may be misdiagnosed as idiopathic, especially in an infant who lacks apparent complications like cardiac anomaly. They should be closely followed up for auto-immune complications.