Journal article
Long Term Follow-up of a Child with Ambiguous Genitalia, Mixed Gonadal Dysgenesis, and Unusual Mosaicism
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, Vol.22(9), pp.863-866
01 Sep 2009
PMID: 19960897
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Mixed gonadal dysgenesis (MGD) is a condition of abnormal and asymmetrical gonadal development. This disorder is typically associated with 45,X/46,XY mosaicism; however, other karyotypes have been rarely reported. The phenotype characterizing MGD is highly variable, although in most cases ambiguous genitalia are found. In addition, many individuals with MGD exhibit stigmata of Turner's syndrome. We describe a patient with MGD, found to have a 45,X/47,XYY karyotype, with the majority of the cell lines being 47,XYY. To our knowledge, our report is the first to describe the long-term follow-up of a patient with ambiguous genitalia diagnosed at birth with 45,X/47,XYY mosaicism.
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Details
- Title
- Long Term Follow-up of a Child with Ambiguous Genitalia, Mixed Gonadal Dysgenesis, and Unusual Mosaicism
- Creators
- Vlady Ostrow - St. Christopher's Hospital for ChildrenFrancesco De Luca - Drexel Univ, Coll Med, St Christophers Hosp Children, Sect Endocrinol & Diabet,Dept Pediat, Philadelphia, PA 19134 USA
- Publication Details
- JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, Vol.22(9), pp.863-866
- Publisher
- Walter De Gruyter
- Number of pages
- 4
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics
- Identifiers
- 991019168131504721
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- Web of Science research areas
- Endocrinology & Metabolism
- Pediatrics