• About Us
    • Contact Us
    • Login
    • ObGFirst
  • COVID-19
  • Alerts
  • OB
  • 2T US Atlas
  • The Genome
  • GYN
    • GYN
    • Sexual Health
  • Primary Care
  • Your Practice
  • GrandRounds
  • My Bookshelf
  • Now@ObG
  • Media
About Us Contact Us Login ObGFirst
  • COVID-19
  • Alerts
  • OB
  • 2T US Atlas
  • The Genome
  • GYN
    • GYN
    • Sexual Health
  • Primary Care
  • Your Practice
  • GrandRounds
  • My Bookshelf
  • Now@ObG
  • Media
Grand Rounds

Just how Common is Nonclassic Congenital Adrenal Hyperplasia?

image_pdfFavoriteLoadingFavorite

BACKGROUND AND PURPOSE:

  • Epidemiology of congenital adrenal hyperplasia (CAH) is well established, due to newborn screening (NBS) programs, now available in over 40 countries
    • 95% of cases related to deficiency in 21-hydroxylase (CYP21A2 gene)
      • While 100s of mutations described, only 12 mutations account for 95% of pathogenic variants
    • Prevalence estimated between 1:10,000 – 1:20,000
    • May be life-threatening with glucocorticoid insufficiency and salt wasting
  • NBS programs do not screen for more mild forms of nonclassic or mild forms of CAH, and rates are based on a paper dating from 1985
    • Ashkenazi Jews; 3.7% affected; 30.9% carrier rate)
    • Caucasians: 0.1% affected
  • Only 3 mutations make up the majority of nonclassic CAH
  • Nonclassic CAH may be asymptomatic or present with signs and symptoms of androgen excess
    • In adults: Hirsutism, menstrual disorders and/or infertility
  • Hannah-Shmouni et al. (Genetics in Medicine, 2017) sought to reassess prevalence of nonclassic CAH in the Ashkenazi Jewish and Caucasian populations using the latest technologies

METHODS:

  • CYP21A2 genotyping was performed on Ashkenazi Jewish subjects and US Caucasians
  • 200 Ashkenazi Jewish individuals: Classification based on having 4 Ashkenazi Jewish grandparents
  • 200 Caucasians who did not self-identify with any ethnicity

RESULTS:

  • Ashkenazi Jews
    • 15% (1/7) were nonclassic carriers (not statistically different than Caucasians)
    • 2.5% (1/40) were classic carriers
    • 0.5% (1/200) affected
  • Caucasians
    • 9.5% (1/11) were nonclassic carriers
    • 1.5% (1/67) were classic CAH carriers
    • 0.5% (1/200) affected

CONCLUSION:

  • Carrier rates for nonclassic CAH is higher in Caucasians and lower in Ashkenazi Jews than previously reported
  • Carrier rates for nonclassic CAH related mutations seen across all ethnicities suggesting there may be some evolutionary advantage to being a carrier
  • Important implications
    • Consider nonclassic CAH in the setting of female hyperandrogenism as treatment different than for that of PCOS
    • Infertility and miscarriage associated with nonclassic CAH can be treated with glucocorticoid therapy
    • 1/200 disease risk of nonclassic CAH suggests benefit of screening regardless of ethnicity in the setting of infertility
  • Nonclassic CAH is a common condition, regardless of ethnicity, and should be considered with preconception and infertility counseling

Learn More – Primary Sources:

Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians

image_pdfFavoriteLoadingFavorite

< Previous
All Grand Rounds Posts
Next >

Related ObG Topics:

Polycystic Ovary Syndrome: Making the Diagnosis
Secondary Amenorrhea: Workup and Diagnosis  
Infertility Evaluation: Who, When and How

Sections

  • COVID-19
  • Alerts
  • OB
  • GYN
    • GYN
    • Sexual Health
  • 2T US Atlas
  • The Genome
  • Primary Care
  • Your Practice
  • Grand Rounds
  • My Bookshelf
  • Now@ObG
  • Media

Are you an
ObG Insider?

Get specially curated clinical summaries delivered to your inbox every week for free

  • Site Map/
  • © ObG Project/
  • Terms and Conditions/
  • Privacy/
  • Contact Us/
© ObG Project
SSL Certificate


  • Already an ObGFirst Member?
    Welcome back

    Log In

    Want to sign up?
    Get guideline notifications
    CME Included

    Sign Up

Get Guideline Alerts Direct to Your Phone
Try ObGFirst Free!

Sign In

Lost your password?

Sign Up for ObGFirst and Stay Ahead

  • - Professional guideline notifications
  • - Daily summary of a clinically relevant
    research paper
  • - Includes 1 hour of CME every month

ObGFirst Free Trial

Already a Member of ObGFirst®?

Please log in to ObGFirst to access the 2T US Atlas

Password Trouble?

Not an ObGFirst® Member Yet?

  • - Access 2T US Atlas
  • - Guideline notifications
  • - Daily research paper summaries
  • - And lots more!
ObGFirst Free Trial

Media - Internet

Computer System Requirements

OBG Project CME requires a modern web browser (Internet Explorer 10+, Mozilla Firefox, Apple Safari, Google Chrome, Microsoft Edge). Certain educational activities may require additional software to view multimedia, presentation, or printable versions of their content. These activities will be marked as such and will provide links to the required software. That software may be: Adobe Flash, Apple QuickTime, Adobe Acrobat, Microsoft PowerPoint, Windows Media Player, or Real Networks Real One Player.

Disclosure of Unlabeled Use

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.

Jointly provided by

NOT ENOUGH CME HOURS

It appears you don't have enough CME Hours to take this Post-Test. Feel free to buy additional CME hours or upgrade your current CME subscription plan

Subscribe

JOIN OBGFIRST AND GET CME/CE CREDITS

One of the benefits of an ObGFirst subscription is the ability to earn CME/CE credits from the ObG entries you read. Tap the button to learn more about ObGFirst

Learn More
Leaving ObG Website

You are now leaving the ObG website and on your way to PRIORITY at UCSF, an independent website. Therefore, we are not responsible for the content or availability of this site