Turner Syndrome Resources

General Information

• National Library of Medicine
  Produced by the National Library of Medicine, MedlinePlus provides information from the National Institutes of Health about diseases, conditions, and wellness issues.
  • Health Topics: Turner syndrome
  • Encyclopedia: Turner syndrome
  • Genetics Home Reference: Turner syndrome
• National Human Genome Research Institute (NHGRI)
  The NHGRI was developed in collaboration with the U.S. Department of Energy as part of NIH's role in the International Human Genome Project. The institute created the Division of Intramural Research at NIH to apply genomic technologies to the study of specific diseases.
  • Learning about Turner syndrome
  • About the Genetic and Rare Diseases Information Center

Services, Resources, and Support

• Turner Syndrome Society of the United States (TSSUS)
  TSSUS offers support groups and chapters nationwide and provides health-related resources to patients, families, and healthcare providers for the diagnosis and treatment of Turner syndrome.
  • What is TS? (PDF 4.14 MB)
  • Fact sheet (PDF 570 KB)
  • TS: A guide for families (PDF 1.37 MB)
• Novo Nordisk
  Novo Nordisk is a global healthcare company specializing in diabetes care, growth hormone therapy, and hormone replacement therapy.
  • Turner Syndrome Foundation : This non-profit organization offers a wide variety of information about Turner syndrome, including patient handbooks, videos, and peer-to-peer support.
• The Hormone Foundation
  The Hormone Health Network provides endocrinology resources and information for patients and health professionals.
  • Turner Syndrome

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

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 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)
  • Medical guidelines for clinical practice for growth hormone use in growth hormone-deficient adults and transition patients — 2009 update
• 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 healthcare 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

• 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.

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