A Case of CATCH22 Syndrome with Normal Parathyroid Function

Abstract

CATCH 22 is a medical acronym for cardiac defects, abnormal faces, thymic hypoplasia, cleft palate, and hypocalcemia, and a variable deletion on chromosome 22. It includes DiGeorge syndrome, conotruncal anomaly face syndrome, and velo-cardio-facial syndrome. It has a prevalence estimated at 1:3,000-1:6,000. Most deletions occur at de novo, but autosomal dominant inheritance is observed in 6-10% of cases. Hormonal disorders are common in patients with CATCH22 syndrome. While hypoparathyroidism was the predominant endocrine disturbance that has been documented in the DiGeorge syndrome, other hormonal defects, such as growth hormone deficiency, hypothyroidism, and hyperthyroidism have been occurred in patients with CATCH22 syndrome. The spectrum of parathyroid gland dysfunction in this syndrome ranges from severe neonatal hypocalcemia to normal parathyroid function. Most patients are usually diagnosed in young age, but a few patients with mild abnormality are presented later in life. We report a case of CATCH22 syndrome with normal parathyroid hormone and calcium level in an adult. The diagnosis of CATCH22 syndrome was confirmed by fluorescence in situ hybridization analysis.

저자들은 부갑상선기능이 정상이고 저칼슘혈증이 동반되지 않으며 정상 면역기능을 갖고 있으나, 선천성 심장기형, 언어발달지연, 구개인두기능부전, 저신장, 특징적인 얼굴 모양을 동반하고 있는 성인환자를 염색체검사를 통하여 CATCH22 증후군으로 진단하였기에 문헌 고찰과 함께 보고하는 바이다.