Turner Syndrome: For Researchers and Health Care Providers

General Information

• Genetics Home Reference: Turner syndrome
• The National Library of Medicine's Genetics Home Reference provides basic information about Turner syndrome and other genetic disorders.
• Demystifying Medicine: Turner's Syndrome: The X Chromosomes, April 2, 2013
  The Demystifying Medicine series, supported by the Foundation for Advanced Education in the Sciences and NIH, presents patients, pathology, diagnosis, and therapy in the context of major diseases like 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)
  These guidelines were developed by the Turner Syndrome Study Group under the aegis of the NICHD.
  • 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.
   
• American Association of Clinical Endocrinologists (AACE)
  This professional organization produces guidelines for clinical endocrinologists that are relevant for providers who treat patients with Turner syndrome.
  • 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.
• National Centers for Translational Research in Reproduction and Infertility (NCTRI)
  The NCTRI (Formerly the Specialized Cooperative Centers Program in Reproduction and Infertility Research [SCCPIR]) is a national network of research-based centers, supported by the FI Branch, that aims to promote interactions between basic and clinical scientists with the goal of improving reproductive health.
• Stillbirth Collaborative Research Network (SCRN)
  The SCRN, funded through the NICHD Pregnancy and 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.