Precocious puberty in a patient with mosaic Turner syndrome

Genet Couns. 2014;25(2):183-7.


Turner syndrome (TS) is one of the most common human chromosome abnormalities, occurring in approximately 1:2500 live female births. Short stature, ovarian dysgenesis and infertility are clinical hallmarks in the majority of patients with TS. The incidence of spontaneous puberty in TS is reported to be about one third. Precocious puberty in TS patients is very rare. Herein, we report precocious puberty in a case with TS.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Disorders*
  • Female
  • Humans
  • Mosaicism
  • Puberty, Precocious / etiology*
  • Puberty, Precocious / genetics
  • Turner Syndrome / complications*
  • Turner Syndrome / genetics

Supplementary concepts

  • Mosaic variegated aneuploidy syndrome