title: A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman.
abstract: CATCH 22 Syndrome is caused by chromosome 22q11.2 microdeletion, characterized by developmental abnormalities of the third and fourth pharyngeal pouches. It has a prevalence estimated at 1:3,000-1:9,000. Most deletions occurs sporadic, but autosomal dominant inheritance observed in 6-10% of cases. CATCH22 often diagnosed due to hypocalcemia during neonatal period or decreased immunity or facial defect, so it is very rare being diagnosed CATCH22 in adulthood. We report a 57 year old female who referred to mental change due to hypocalcemia and is diagnosed CATCH22. She was presented with hypoparathyroidism, single kidney due to renal agenesis, and mild facial defect. Our patient responded well to calcium and vitamin D treatment and she is on follow-up in outpatient clinic.
authors: Department of Endocrinology and Metabolism, Ajou University School of Medicine, Suwon, Korea.
authors: Seung Kyung
authors: SK
authors: Lee
authors: Department of Endocrinology and Metabolism, Ajou University School of Medicine, Suwon, Korea.
authors: Min Jeong
authors: MJ
authors: Lee
authors: Department of Endocrinology and Metabolism, Ajou University School of Medicine, Suwon, Korea.
authors: Hyo Jin
authors: HJ
authors: Lee
authors: Department of Endocrinology and Metabolism, Ajou University School of Medicine, Suwon, Korea.
authors: Bu Kyung
authors: BK
authors: Kim
authors: Department of Medical Genetics, Ajou University School of Medicine, Suwon, Korea.
authors: Young Bae
authors: YB
authors: Sohn
authors: Department of Endocrinology and Metabolism, Ajou University School of Medicine, Suwon, Korea.
authors: Yoon-Sok
authors: YS
authors: Chung
keywords: DiGeorge Syndrome; Hypocalcemia; Hypoparathyroidism