Turner syndrome and osteoporosis

Maturitas. 2019 Dec:130:41-49. doi: 10.1016/j.maturitas.2019.09.010. Epub 2019 Sep 25.


Turner syndrome is one of the most common sex chromosomal anomalies, characterized by the complete or partial loss of one X chromosome. Females with Turner syndrome are characterized by skeletal abnormalities, short stature and primary ovarian insufficiency. The aim of this narrative review was to identify the underlying mechanisms of osteoporosis in Turner syndrome, summarize its clinical manifestations and provide suggestions regarding the management of osteoporosis. Girls and women with Turner syndrome have lower bone mineral density and a higher fracture rate than healthy individuals. The most important risk factors for osteoporosis are inadequately treated primary ovarian insufficiency, followed by intrinsic bone abnormalities. Comorbidities that further increase the risk of osteoporosis include vitamin D deficiency, celiac disease and inflammatory bowel disease. In addition, hearing problems can predispose to falls. Early initiation of hormone replacement therapy (HRT) at the age of 11-13 years, prompt titration to the adult dose after 2 years and long-term follow-up to ensure compliance with HRT are the cornerstones of osteoporosis prevention in women with Turner syndrome.

Keywords: Bone mineral density; Fracture; Hormone replacement therapy; Osteoporosis; Turner syndrome.

Publication types

  • Review

MeSH terms

  • Bone Density
  • Bone and Bones / abnormalities
  • Celiac Disease / complications
  • Female
  • Fractures, Bone / etiology
  • Fractures, Bone / prevention & control
  • Hormone Replacement Therapy*
  • Humans
  • Inflammatory Bowel Diseases / complications
  • Menopause, Premature
  • Osteoporosis / etiology*
  • Osteoporosis / prevention & control*
  • Primary Ovarian Insufficiency / complications
  • Turner Syndrome / complications*
  • Turner Syndrome / diagnosis
  • Turner Syndrome / drug therapy
  • Vitamin D Deficiency / complications
  • Vitamin D Deficiency / drug therapy