title: Precocious puberty in Turner syndrome.
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.
authors.affiliation: Department of Endocrinology and Diabetes, Royal Children's Hospital, Melbourne, Victoria, Australia. matt.sabin@rch.org.au
authors.forename: Matthew A
authors.initials: MA
authors.lastname: Sabin
authors.forename: Margaret R
authors.initials: MR
authors.lastname: Zacharin
mesh_terms: D001827:Body Height / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D017273:Goserelin / Q000627:therapeutic use*; D006801:Humans; D009030:Mosaicism; D011629:Puberty, Precocious / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics / Q000517:prevention & control; D014424:Turner Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy
chemical_list: D017273:Goserelin