All issues > Volume 44(6); 2001

Case Report

J Korean Pediatr Soc. 2001;44(6):714-717. Published online June 15, 2001.

49, XXXXY Syndrome with Multicystic Kidney in a Neonate

Eun Young EY Park¹, Soo Jee SJ Moon¹

¹Department of Pediatrics, College of Medicine, Hanyang University, Seoul, Korea

Abstract

The 49, XXXXY Klinefelter variant is distinctive; classic findings include mental retardation, hypogonadism and radioulnar synostosis. Its incidence is estimated to be 1/80,000 to 1/100,000 male births. We report a case of 49, XXXXY syndrome confirmed by chromosomal study in neonatal period, whose clinical features included a coarse face, short neck, micropenis, and other multiple minor anomalies including simian creases. Echocardiography showed patent ductus arteriosus (PDA), and pulmonary hypertension. A multicystic kidney was found by abdominal ultrasonography.

Keywords :49, XXXXY syndrome, Multicystic kidney