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49, XXXXY syndrome with severe vesico-ureteral reflux and hydronephrosis: report of one case.

Abstract

The 49, XXXXY syndrome was first reported in 1960. It represents a rare sex chromosome aneuploidy syndrome. Some consider it as the most severe variant of Klinefelter syndrome (47, XXY). The approximate incidence is 1 in 85,000 male births. The karyotype arises from maternal non-disjunction during both meiosis I and meiosis II. The clinical presentations of 49, XXXXY syndrome include mental deficiency, hypogonadism, severe speech delay, multiple skeletal anomalies, cardiac defects and characteristic facial features. It might be mistaken for Down syndrome and needs chromosome analysis for confirmation. According to literature review, urinary tract anomaly in association with 49, XXXXY syndrome was extremely rare. Here we report a case of 49, XXXXY with Down syndrome-like facial dysmorphism, who was found to have patent ductus arteriosus and hypotonia. Moreover, he also got grade V vesico-ureteral reflux, R't with hydronephrosis and urinary tract infection. We hope to remind clinicians to arrange chromosomal analysis if multiple congenital anomalies exist in a neonate. And remember to exclude congenital genitourinary tract anomaly if karyotype 49, XXXXY is diagnosed.

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Authors+Show Affiliations

,

Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan.

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Source

MeSH

Abnormalities, Multiple
Chromosomes, Human, X
Ductus Arteriosus, Patent
Face
Fatal Outcome
Humans
Hydronephrosis
Infant, Newborn
Karyotyping
Kidney
Male
Muscle Hypotonia
Sex Chromosome Aberrations
Sex Chromosome Disorders
Syndrome
Ultrasonography
Urinary Tract
Urinary Tract Infections
Vesico-Ureteral Reflux

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16302576

Citation

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TY - JOUR T1 - 49, XXXXY syndrome with severe vesico-ureteral reflux and hydronephrosis: report of one case. AU - Chang,Jenn-Tzong, AU - Chiu,Pao-Chin, AU - Chen,Ying-Yao, AU - Chao,Mei-Chyn, AU - Hsieh,Kai-Sheng, PY - 2005/11/24/pubmed PY - 2006/2/4/medline PY - 2005/11/24/entrez SP - 35 EP - 8 JF - Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi JO - Acta Paediatr Taiwan VL - 46 IS - 1 N2 - The 49, XXXXY syndrome was first reported in 1960. It represents a rare sex chromosome aneuploidy syndrome. Some consider it as the most severe variant of Klinefelter syndrome (47, XXY). The approximate incidence is 1 in 85,000 male births. The karyotype arises from maternal non-disjunction during both meiosis I and meiosis II. The clinical presentations of 49, XXXXY syndrome include mental deficiency, hypogonadism, severe speech delay, multiple skeletal anomalies, cardiac defects and characteristic facial features. It might be mistaken for Down syndrome and needs chromosome analysis for confirmation. According to literature review, urinary tract anomaly in association with 49, XXXXY syndrome was extremely rare. Here we report a case of 49, XXXXY with Down syndrome-like facial dysmorphism, who was found to have patent ductus arteriosus and hypotonia. Moreover, he also got grade V vesico-ureteral reflux, R't with hydronephrosis and urinary tract infection. We hope to remind clinicians to arrange chromosomal analysis if multiple congenital anomalies exist in a neonate. And remember to exclude congenital genitourinary tract anomaly if karyotype 49, XXXXY is diagnosed. SN - 1608-8115 UR - https://www.unboundmedicine.com/medline/citation/16302576/49_XXXXY_syndrome_with_severe_vesico_ureteral_reflux_and_hydronephrosis:_report_of_one_case_ DB - PRIME DP - Unbound Medicine ER -