- NICHD Program in Developmental Endocrinology and Genetics – Turner Syndrome
This intramural program conducts research on Turner syndrome and provides information about the syndrome to professionals.
- 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.
- 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.
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.
- 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:
Please note: Links to organizations and information included on this page do not indicate endorsement from the NICHD, NIH, or HHS.