Title: Turner Syndrome (TS)

Version: November 2023

Description: This module assesses the appropriate following of guidelines for diagnosis and clinical management of Turner syndrome. This MOC provides practice performance assessment for a total of 3 patients with TS.

Target Audience: Clinical/Medical geneticists

Learning Objectives

1. Evaluate the clinical diagnosis of individuals with Turner syndrome
2. To assess the appropriate use of guidelines for clinical management of this disorder

Introduction:

Turner syndrome is a common disorder due to aneuploidy of the sex chromosomes. Turner syndrome (TS) is used to describe phenotypic females who have characteristic physical features and complete or partial absence of the second sex chromosome, with or without cell line mosaicism. It occurs in 1 in 2500 to 1 in 4000 live-born females. The clinical features of Turner syndrome vary widely among affected females and typically include growth failure, pubertal delay, infertility, lymphedema of the hands and/or feet, structural heart defects (most commonly coarctation of the aorta and/or bicuspid aortic valve) and learning disabilities. Although the traditional definition of TS implies the presence of typical features such as facial, lymphedema and webbing of the neck, the proceedings from 2016 Cincinnati International Turner Syndrome meeting recommend to broaden the inclusion criteria and include features such as linear growth failure, pubertal delay, early sensorineural hearing loss, distinctive congenital cardiovascular, skeletal, digital and renal anomalies, a particular neurodevelopmental profile, and a constellation of other disorders that are more common in TS, including hypothyroidism and celiac disease.

Women with Turner syndrome all lack X- chromosome material and can present with different karyotypes.  About 40 to 50% of women with TS present with 45,X karyotype, 15 - 25% have mosaicism with 45,X/46,XX, 3% have mosaicism with “47,XXX”. Ten to 12% of women have mixed gonadal dysgenesis 45,X/46,XY, deletion of Xp22.3 and ring X chromosome. About 10% have isochromosome Xq,isodicentric Xp. Unbalanced X-autosome translocation contributes to rare cases of TS.

Within the definition of Turner syndrome, the following are specifically excluded:

• Those with a 45,X cell line but without clinical features of TS
• Phenotypic males, regardless of karyotype
• Small terminal deletions of Xp that do not include Xp22.3, which may lead only to short stature
• Individuals with either primary or secondary amenorrhea with deletion of Xq distal to Xq24 but without short stature or other TS features. The diagnosis of premature ovarian failure (POF) is more appropriate for these individuals.

Multidisciplinary care of Turner syndrome individuals may help in reducing the morbidity and mortality as different systems are affected with aging.

Engagement in Improving Health and Health Care (formerly CCP Part IV)

Developed by the Continuing Certification Program (CCP) Committee

ACMG and ABMGG collaborate to offer Diplomates a comprehensive range of practice improvement modules. Choose from Medical, Prenatal, Cancer, or Laboratory Genetics to elevate your expertise alongside fellow professionals in the field.

Process:

1. Educational Content – Review module, literature, and practice checklist
2. Charting – Each module requires the learner to review 3 patient charts and document certain findings according to the module questions.
3. Assessment and Self-reflection Questions (N/A responses are not acceptable and credits will be revoked)
4. Evaluation

Completion of these modules should be based on actual patient care as documented in your patient chart. The process is not meant to be punitive but designed to help assess practice and facilitate practice improvement. The modules should be completed honestly based on documentation in the chart. An audit process may be implemented by ACMG to document compliance. Learners should keep track of the specific charts used to complete the practice module so that these charts could be reproduced in the setting of an audit.

Self-reflections should be meaningful and provide evidence that the diplomate has considered the practice guidelines contained in the exercise in the context of their own clinical practice. Answers to reflection questions should be 2-3 full sentences long and have thoughtful content. Answers to reflection questions will be anonymized and reviewed for content by the MOC committee. Reflections that do not meet these guidelines will be returned to the diplomate for revision. Revisions that do not meet guidelines may result in forfeiture of MOC credit for a given module and a request to repeat the module.

• Do you think this module reflects best practice?  Please elaborate whether you agree or disagree and state why.
• Did you identify any gaps in your practice?  If so, please elaborate.
• If you identified gaps in your practice, what changes do you plan make to your practice based on this module?
• What if any barriers do you foresee for implementing change if you identified gaps in your practice? For example, short staffing, time factors etc.

Add a Process/Procedure Timeline:
work with workgroup on this

This activity involves engaging with the module literature and practice checklist, completing the patient checklist, responding to self-reflection questions, and filling out the evaluation form. To finalize the patient checklist, download it from the specified location, fill it out, and upload it as a single PDF file. The CCP Committee will assess your submissions. Upon thorough completion of the self-reflection questions and patient checklists, you will receive email confirmation granting access to your AMA PRA Category 1 Credits™ and CCP Part IV certificates. These certificates can be downloaded for your records. Additionally, for CCP Part IV, you may upload the completion certificate to the ABMGG portal to receive Part IV credit.

 
Engagement in Improving Health and Health Care (formerly CCP Part IV) 
Need to discuss with ABMGG about what certificate qualifies for upload.

The American College of Medical Genetics and Genomics (ACMG) is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide Accredited Continuing Education (ACE) for physicians. ACMG is an organization committed to the improvement of patient care and general health by the incorporation of genetics and genomics into clinical practice.

ACMG has implemented the following procedures to ensure the independence of ACE activities from commercial influence/promotional bias, the Accreditation Council for Continuing Medical Education (ACCME) requires that providers (ACMG) must be able to demonstrate that: 1) everyone in a position to control the content of an ACE activity has disclosed all financial relationships that they have had in the past 24 months with ineligible* companies; 2) ACMG has implemented a mechanism to mitigate relevant financial relationships; and 3) all relevant financial relationships with ineligible companies are disclosed to the learners before the beginning of the educational activity. The learners must also be informed if no relevant financial relationships exist.
*Ineligible companies are defined as those whose primary business is producing, marketing, selling, re-selling, or distributing healthcare products used by or on patients.

ACMG Education Policies

Please review the policies below regarding the ACMG Education program

• Financial Disclosures and Mitigation Procedure
• ACMG Content Validation Policy
• ACMG Content Branding Policy

All of the relevant financial relationships listed for these individuals have been mitigated.

Disclaimer

ACMG educational programs are designed primarily as an educational tool for health care providers who wish to increase their understanding of the application of genomic technologies to patient care. The ACMG does not endorse or recommend the use of this educational program to make patient diagnoses, particular by individuals not trained in medical genetics. Adherence to the information provided in these programs does not necessarily ensure a successful diagnostic outcome. The program should not be considered inclusive of all proper procedures and or exclusive of other procedures and that are reasonably directed at obtaining the same results. In determining the propriety of any specific procedure or, a healthcare provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.

Questions regarding CE credit should be directed to education@acmg.net