Precocious puberty in Turner syndrome.
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.
Sabin
Matthew A
MA
Department of Endocrinology and Diabetes, Royal Children's Hospital, Melbourne, Victoria, Australia. matt.sabin@rch.org.au
Zacharin
Margaret R
MR
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
D017273:Goserelin