3-Year-old phenotypic female with campomelic dysplasia and bilateral gonadoblastoma.

Abstract:

:The authors report the case of bilateral gonadoblastomas in a phenotypic female, with a 46,XY karyotype, with campomelic dysplasia. Although campomelic dysplasia with gonadal dysgenesis should be expected to contribute to an increased risk of gonadoblastoma, this is the first documented case report of campomelic dysplasia and gonadoblastoma. Phenotypic females with campomelic dysplasia should be karyotyped once the skeletal dysplasia is recognized. phenotypic females with campomelic dysplasia should undergo gonadectomy if their karyotype includes a Y chromosome or fragment.

journal_name

J Pediatr Surg

authors

Hong JR,Barber M,Scott CI,Guttenberg M,Wolfson PJ

doi

10.1016/0022-3468(95)90468-9

subject

Has Abstract

pub_date

1995-12-01 00:00:00

pages

1735-7

issue

12

eissn

0022-3468

issn

1531-5037

pii

0022-3468(95)90468-9

journal_volume

30

pub_type

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