| Literature DB >> 17924940 |
Matthew A Sabin1, Margaret R Zacharin.
Abstract
Turner syndrome (TS) affects approximately 1 in 2000 liveborn girls. It is a common cause of short stature and is often, but not universally, associated with characteristic dysmorphic features and ovarian dysgenesis. Genotype/phenotype correlation in TS is generally poor and girls with TS may occasionally have normal functioning ovarian tissue, with approximately 30-40% entering puberty, 4% achieving menarche and 1% being fertile. In this report, we describe a girl with mosaic TS who unusually experienced spontaneous precocious puberty with associated accelerated longitudinal growth during mid childhood. This case acts as a useful clinical vignette with which to highlight important aspects of diagnosis and treatment in children with TS, particularly in relation to future growth potential and issues relating to fertility.Entities:
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Year: 2007 PMID: 17924940 DOI: 10.1111/j.1440-1754.2007.01219.x
Source DB: PubMed Journal: J Paediatr Child Health ISSN: 1034-4810 Impact factor: 1.954