Turner Syndrome: For Researchers and Health Care Providers

General Information about Turner Syndrome

• NICHD: Clinical features of Turner syndrome
• NICHD: Genetic features of Turner syndrome
• Genetics Home Reference: Turner syndrome
• Medline Plus Encyclopedia: Intersex
  • Complex or undetermined intersex disorders of sexual development include cases of Turner syndrome 45,XO, where only one X chromosome is present and fully functional.

Practice and Laboratory Guidelines

• NICHD Clinical Practice Guidelines (2007)
  • Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group (PDF - 156 KB)
• American College of Medical Genetics (ACMG)
  • Short stature is a common indication for genetic evaluation. The ACMG provides evaluation guidelines for short stature and common associated diagnoses, including Turner syndrome.
    • ACMG practice guideline: Genetic evaluation of short stature. (PDF - 270 KB) (2009). Genetics in Medicine, 11, 465-470.
  • Diagnosis of Turner syndrome has both clinical and laboratory components. These publications provide laboratory guidance for the diagnosis/study of patients with Turner syndrome and its variants.
    • Laboratory guideline for Turner syndrome (PDF - 137 KB). (2010). Genetics in Medicine, 12, 52-55.
    • Turner syndrome corrigendum (PDF - 149 KB). (2012). Genetics in Medicine, 7, 571-583.
• American Association of Clinical Endocrinologists (AACE)
  • AACE statement on growth hormone usage in short children (2003) (PDF - 136 KB)
  • Medical guidelines for clinical practice for growth hormone use in growth hormone-deficient adults and transition patients — 2009 update (PDF - 473 KB)
• Consortium on the Management of Disorders of Sex Development
  • Clinical guidelines for the management of disorders of sexual development in childhood, 2006

References

• Reviews on Turner syndrome
  • Bondy, C. A. (2010). Turner syndrome. In: Carrell, D. T., & Peterson, C. M. (Eds.), Reproductive Endocrinology and Infertility: Integrating Modern Clinical and Laboratory Practice, Part 2, 307-324. New York, NY: Springer-Verlag New York Inc. doi: 10.1007/978-1-4419-1436-1-19.
  • Bondy, C. A. (2009). Turner syndrome 2008. Hormone Research, 71, 52-56.
• Guidance for health care professionals on the diagnosis and treatment of primary ovarian insufficiency
  • Nelson, L. M. (2009). Clinical practice: Primary ovarian insufficiency. New England Journal of Medicine, 360, 606-614 (PDF - 430 KB)

Research Networks

• Reproductive Medicine Network
  • The Reproductive Medicine Network, founded in 1990, carries out large, multicenter clinical trials of diagnostic and therapeutic interventions for male and female infertility and reproductive diseases and disorders.
• Specialized Cooperative Centers Program in Reproduction and Infertility Research (SCCPIR)
  • The SCCPIR is a national network of research-based centers that promotes multidisciplinary interactions between basic and clinical scientists interested in establishing high-quality translational research programs in the reproductive sciences.
• Stillbirth Collaborative Research Network (SCRN)
  • The SCRN, funded through the NICHD Pregnancy & Perinatology Branch, seeks to understand the causes of stillbirth, improve stillbirth reporting, and develop preventive interventions for the condition.

Please note: Links to organizations and information included on this page do not indicate endorsement from the NICHD, NIH, or HHS.