Klinefelter Syndrome (KS) Resources

General Information

• American Association for Klinefelter Syndrome 
  The association maintains information about the condition, current studies, and connections to support groups.
• Mayo Clinic 
  The clinic’s website describes how to prepare for your first appointment to check for KS. It also summarizes symptoms, diagnoses, treatments, and complications.
• InterNational Council on Infertility Information Dissemination, Inc. (INCIID) 
  The Infertility: Male Factor section of the website is a collection of fact sheets, research papers, personal stories, and other information. INCIID also maintains a forum for online discussion .
• Association for X and Y Chromosome Variations (AXYS) 
  AXYS, formerly known as Knowledge, Support, and Action, is an organization that provides information, education, and support for individuals with KS and other sex chromosome variations, including trisomy X (47,XXX) and XYY syndrome. The website features downloadable brochures, FAQs, and other resources on topics related to sex chromosome variations, including general support for parents .
• National Library of Medicine
  The MedlinePlus information page on Klinefelter syndrome is a compilation of resources with research and general information on KS.
• National Human Genome Research Institute (NHGRI)
  NHGRI maintains an information page, What is Klinefelter syndrome?
• Endocrine Society 
  The network is a leading source of hormone-related health information for the public, health care providers, and the media :
  • Gynecomastia
  • Reproductive Infertility
  • Hypogonadism in Men
  • Osteoporosis
  • Use the foundation’s search tool to find an endocrinologist 
     

Services, Resources, and Support

• American Association for Klinefelter Syndrome 
  The association is a national volunteer organization that offers information and connections to support groups for those affected.
• Daily Strength 
  This online community has a support group dedicated to KS.
• Klinefelter Syndrome X and Y Variations Support, Information, and Education 
  In addition to general KS information, this site has links to email lists, a research survey, and email-based mailing lists for various networks, support groups, and international KS organizations.

Resources on Infertility and Other Health Conditions Linked with KS

• Centers for Disease Control and Prevention (CDC)
  CDC studies issues related to infertility and has information about assisted reproductive technology.
• RESOLVE: The National Infertility Association 
  RESOLVE provides timely, compassionate support and information to women and men who are affected by infertility.
  • Join one of RESOLVE’s online support communities .
  • Find a professional to help with fertility consultation, third-party reproduction (such as in vitro fertilization with egg donation), or adoption.
  • Contact the helpline .
• Society for Assisted Reproductive Technology (SART) 
  SART is an organization of professionals dedicated to assisted reproductive technology, which includes in vitro fertilization. Read SART’s patient guide to assisted reproductive technology.
• National Cancer Institute (NCI)
  Part of NIH, NCI conducts and supports research, training, health information dissemination, and other programs with respect to the cause, diagnosis, prevention, and treatment of cancer; rehabilitation from cancer; and the continuing care of cancer patients and their families.
  • Learn more about breast cancer.
• National Osteoporosis Foundation 
  The foundation has information about how to reduce bone weakness. Join a support community .

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

For Researchers

• Mammalian Reproductive Genetics Database 
  This database holds information regarding genes and literature related to mammalian reproduction.
• National Center for Biotechnology Information 
  This NIH center has resources for sex chromosome variations, including XXY.
• Orphanet 
  This international website maintains, updates, and develops free information about rare diseases and orphan drugs.
• Reproductive Genomics Program: Mouse Models of Infertility 
  This program, at the Jackson Laboratory, uses ENU mutagenesis to produce mouse models of infertility and includes mutagenesis of the mouse genome, phenotypic screening for infertility mutations, and regional mapping of each mutation to a chromosome. Breeding stock is available for scientists interested in using these models in their own research programs.
• University of Virginia Center for Research in Reproduction Ligand Assay and Analysis Core 
  The core provides high-quality, cost-effective assay services for Reproductive Sciences Branch–supported projects, both internal and external.

For Health Care Providers and Other Caregivers

• American Academy of Family Physicians: Review Article on KS  
  A review article describes Klinefelter syndrome to help family physicians recognize, diagnose, and know how to treat children and adults with KS.
• American Association of Clinical Endocrinologists Medical Guidelines for Clinical Practice for the Evaluation and Treatment of Hypogonadism in Adult Male Patients—Update
  This resource for physicians covers how to manage low testosterone.
• The Endocrine Society 
  This organization for endocrinologists has a clinical practice guideline for physicians.
• Testosterone Therapy in Adult Men with Androgen Deficiency Syndromes

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