Format

Send to

Choose Destination
J Pediatr Surg. 2015 Jul;50(7):1220-3. doi: 10.1016/j.jpedsurg.2015.03.056. Epub 2015 May 7.

45,X mosaicism with Y chromosome presenting female phenotype.

Author information

1
Department of Urology, Nara Prefecture General Medical Center, 1-30-1, Hiramatsu, Nara city, Nara, 631-0846, Japan. Electronic address: doubletruth0922@yahoo.co.jp.
2
Department of Urology, Aichi Children's Health and Medical Center, 7-426, Morioka-cho, Obu, Aichi, 474-8710, Japan.

Abstract

Prophylactic gonadectomy is recommended in patients with 45,X mosaicism with the Y chromosome and presenting a female phenotype because of the risk of gonadoblastoma development. The characteristics of this disorder remain unclear because of its low incidence. We report 4 patients with 45,X mosaicism with the Y chromosome and presenting complete female external genitalia. We analyzed the characteristics and the macroscopic and histopathological findings of their gonads and performed hormonal assays of the 4 patients. All 4 patients were referred to us with short stature as the chief complaint. Chromosomal studies revealed 45,X/47,XYY in 1, and the others had a 45,X/46,XY karyotype. Three patients (6 gonads) underwent laparoscopic bilateral gonadectomy. The macroscopic appearance of gonads of 1 patient was similar to an ovary, whereas gonads of the rest appeared as streak gonads. The histopathological findings revealed bilateral gonadoblastoma in 1 patient, although the macroscopic findings did not show tumor characteristics. It is impossible to distinguish the histopathological findings of gonads according to their macroscopic appearance among patients with 45,X mosaicism with the Y chromosome and presenting a female phenotype.

KEYWORDS:

45,X mosaicism; Gonadoblastoma; Prophylactic gonadectomy; Turner syndrome; Y chromosome

PMID:
26002715
DOI:
10.1016/j.jpedsurg.2015.03.056
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center