J Pediatr Genet 2020; 09(04): 221-226
DOI: 10.1055/s-0040-1713002
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Klinefelter Syndrome Mosaicism 46,XX/47,XXY: A New Case and Literature Review

Chayada Tangshewinsirikul
1  Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
,
Wirada Dulyaphat
1  Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
,
Thipwimol Tim-Aroon
2  Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
,
Rachanee Parinayok
3  Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
,
Takol Chareonsirisuthigul
3  Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
,
Veerawat Korkiatsakul
3  Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
,
Jariya Waisayarat
3  Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
,
Pokket Sirisreetreerux
4  Division of Urology, Department of Surgery, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
,
Yada Tingthanatikul
5  Division of Reproductive Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailands
,
Duangrurdee Wattanasirichaigoon
2  Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
› Author Affiliations
Funding This work was supported by grants from the Department of Pathology, Faculty of Medicine Ramathibodi Hospital.
Further Information

Publication History

02 March 2020

21 April 2020

Publication Date:
17 June 2020 (online)

Abstract

Most cases of Klinefelter syndrome (KS) have 47,XXY karyotype. We reported the first case of 46,XX/47,XXY KS whose genital ambiguity was detected prenatally with postnatal confirmation of the mosaicism and ovotesticular disorder of sex development (OT-DSD). The paternal origin of the extra X chromosome was identified using trio cytogenomic single-nucleotide polymorphism array. Additional 18 cases were also reviewed. The clinical presentation of 46,XX/47,XXY is age-dependent with two age peaks, including ambiguous genitalia during infancy and gynecomastia with or without cyclical hematuria and left scrotal pain and mass in adolescence. The 46,XX is the predominant karyotype both in peripheral blood and gonadal tissue. The risk of germ cell tumor is very high throughout life in these individuals. Individuals with 46,XX/47,XXY mosaicism should be treated more as OT-DSD other than a simple mosaic KS. A multidisciplinary approach and long-term monitoring are necessary.

Authors' Contributions

C.T. designed the study, collected clinical data, performed literature review, and wrote the manuscript. W.D., T.T., P.S., and Y.T. provided clinical data and/or surgical specimens. R.P., T.C., and V.K. performed and analyzed genetic testing. J.W. reviewed histology and D.W. supervised overall concept design and edited the manuscript. All the authors reviewed the manuscript.