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The Genome
CMECNE

Klinefelter Syndrome: A Wide Range of Clinical Findings

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Learning Objectives and CME/Disclosure Information

This activity is intended for healthcare providers delivering care to women and their families.

After completing this activity, the participant should be better able to:

1. Define the chromosomal complement of an individual with Klinefelter syndrome
2. Counsel patients as to possible hormonal therapeutic approaches in the treatment of Klinefelter syndrome

Estimated time to complete activity: 0.25 hours

Faculty:

Susan J. Gross, MD, FRCSC, FACOG, FACMG
President and CEO, The ObG Project

Disclosure of Conflicts of Interest

Postgraduate Institute for Medicine (PIM) requires instructors, planners, managers and other individuals who are in a position to control the content of this activity to disclose any real or apparent conflict of interest (COI) they may have as related to the content of this activity. All identified COI are thoroughly vetted and resolved according to PIM policy. PIM is committed to providing its learners with high quality CME activities and related materials that promote improvements or quality in healthcare and not a specific proprietary business interest of a commercial interest.

Faculty: Susan J. Gross, MD, receives consulting fees from Cradle Genomics, and has financial interest in The ObG Project, Inc.

Planners and Managers: The PIM planners and managers, Trace Hutchison, PharmD, Samantha Mattiucci, PharmD, CHCP, Judi Smelker-Mitchek, MBA, MSN, RN, and Jan Schultz, MSN, RN, CHCP have nothing to disclose.

Method of Participation and Request for Credit

Fees for participating and receiving CME credit for this activity are as posted on The ObG Project website. During the period from Dec 31 2017 through Dec 31 2021, participants must read the learning objectives and faculty disclosures and study the educational activity.

If you wish to receive acknowledgment for completing this activity, please complete the post-test and evaluation. Upon registering and successfully completing the post-test with a score of 100% and the activity evaluation, your certificate will be made available immediately.

For Pharmacists: Upon successfully completing the post-test with a score of 100% and the activity evaluation form, transcript information will be sent to the NABP CPE Monitor Service within 4 weeks.

Joint Accreditation Statement

In support of improving patient care, this activity has been planned and implemented by the Postgraduate Institute for Medicine and The ObG Project. Postgraduate Institute for Medicine is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physician Continuing Medical Education

Postgraduate Institute for Medicine designates this enduring material for a maximum of 0.25 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Continuing Nursing Education

The maximum number of hours awarded for this Continuing Nursing Education activity is 0.2 contact hours.

Read Disclaimer & Fine Print

WHAT IS IT?

  • Klinefelter syndrome is also known as XXY syndrome
    • Present in 1 in 500 to 1 in 1000 newborn males
  • A sex chromosome abnormality that involves the presence of two or more X chromosomes and one Y chromosome
    • Majority are 47,XXY karyotype
    • Remaining cases are 48, XXXY or mosaic 46,XY/47,XXY
  • Prenatally, usually no obvious physical features detectable on ultrasound
  • In infancy, possible minor findings:
    • Hypospadias and small or undescended testes
  • Clinical features may be subtle and often a diagnosis is not made until adolescence, adulthood, or not at all:
    • Tall stature
    • Small and atrophic testes
    • Gynecomastia (excess breast tissue)
    • Evidence of androgen deficiency such as decreased body hair
    • Increased risk for breast cancer and autoimmune disorders (e.g. lupus)
  • Intellectual development:
    • Individuals who have a 47,XXY karyotype usually have normal intelligence
    • Starting in childhood, educational support may be needed to address learning disabilities, delayed speech and language development
    • Individuals who have more than two X chromosomes are likely to have more severe symptoms
  • Treatment:
    • Testosterone replacement is available and is usually started in early puberty
      • Treatment should be under the care of an endocrinologist and ideally with the collaboration of a multidisciplinary team
      • Recent data suggest treatment early in childhood may have a positive impact on neurodevelopment and social behaviors
    • Removal of excess breast tissue is an option for cosmetic reasons and to reduce the risk for breast cancer
    • Fertility treatment now available using assisted reproductive technology (ART), including testicular sperm extraction with intercytoplasmic sperm injection (TESE-ICSI)
    • Academic educational support to assist with language-based learning disabilities (LLD) and motor planning issues

CAUSE:

Klinefelter syndrome is a condition caused by an abnormal karyotype (2 or more X chromosomes and one Y chromosome) that is present at the time of conception. It usually is the result of non-disjunction during meiosis and is either of maternal (55%) or paternal (45%) origin. It is a sporadic condition, not inherited.

KEY POINTS:

  • ACOG requires all women be offered prenatal screening (biochemical/cfDNA) or invasive testing (amniocentesis; CVS) to detect an increased risk or to diagnose aneuploidy, respectively
  • Currently, the only way to prenatally diagnose Klinefelter syndrome is through invasive testing (amniocentesis or CVS)
  • Klinefelter syndrome is now included on some cfDNA screening tests
    Invasive testing is necessary to confirm any positive result on screening using cfDNA
  • If there is a history of Klinefelter syndrome, refer for genetic counseling

Learn More – Primary Sources:

NIH GARD –Klinefelter syndrome

NICHD – Klinefelter syndrome

US NLM – Genetics Home Reference: Klinefelter syndrome

Management of Klinefelter syndrome During Transition

Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY

Oxandrolone Treatment Results in an Increased Risk of Gonadarche in Prepubertal Boys With Klinefelter Syndrome

Locate a Genetic Counselor or Genetics Services:

Genetic Services Locator-ACMG

Genetic Services Locator-NSGC

Genetic Services Locator-CAGC

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Related ObG Topics:

Genetic Counseling: Who to Refer and What They Should Expect
How Accurate is NIPT as a Screening Test for Chromosomal Aneuploidies?
SMFM Guidance – The Role of Prenatal Ultrasound and NIPT 
Should Amniocentesis or Chorionic Villus Sampling Be Offered to All Pregnant Women?
Practical info on evidence based medicine for your women's healthcare practice
cfDNA vs. Routine Screening – How Do They Compare?

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This educational activity may contain discussion of published and/or investigational uses of agents that are not indicated by the FDA. The planners of this activity do not recommend the use of any agent outside of the labeled indications.

The opinions expressed in the educational activity are those of the faculty and do not necessarily represent the views of the planners. Please refer to the official prescribing information for each product for discussion of approved indications, contraindications, and warnings.

Disclaimer

Participants have an implied responsibility to use the newly acquired information to enhance patient outcomes and their own professional development. The information
presented in this activity is not meant to serve as a guideline for patient management. Any procedures, medications, or other courses of diagnosis or treatment discussed or suggested in this activity should not be used by clinicians without evaluation of their patient’s conditions and possible contraindications and/or dangers in use, review of any applicable manufacturer’s product information, and comparison with recommendations of other authorities.

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