5α-Reductase Deficiency

Overview

4.7 out of 5 (174 Reviews)

Credits

1.00

Post-Assessment Questions

6

Start Date

1 Sep 2023

Last Review Date

10 Jan 2026

Expiration Date

31 Aug 2026

Estimated Time To Finish

60 Minutes


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Activity Description

Deficiency of 5α-reductase type 2 is a rare autosomal recessive disorder of sex development characterized by impaired conversion of testosterone to dihydrotestosterone, a critical step in androgen synthesis, and is implicated in male genital differentiation, degree of masculinization, and later development of secondary sexual characteristics. This enzymatic defect results in a spectrum of undervirilization in individuals with a 46,XY karyotype, ranging from isolated micropenis at one end to severe hypospadias and or a female-appearing external phenotype. During puberty, partial virilization may occur due to rising testosterone levels, increased dihydrotestosterone production via 5α-reductase type 1, and residual activity of the abnormal 5α-reductase type 2 enzyme, often leading to diagnostic uncertainty and psychosocial distress.

This activity provides a comprehensive overview of the pathophysiology, genetics, clinical manifestations, and diagnostic approach to 5α-reductase type 2 deficiency. Learners will be guided through early recognition of signs, appropriate biochemical and genetic investigations, and individualized approaches to sex assignment and management. The activity emphasizes the importance of culturally sensitive communication, long-term psychological support, and evidence-based endocrine and surgical decision-making. By participating in this activity, healthcare professionals will enhance their competence in coordinating care as part of an interprofessional team, applying current guidelines, and navigating the ethical complexities inherent in diagnosing and managing 5α-reductase type 2 deficiency.


Target Audience

This activity has been designed to meet the educational needs of physicians, physician associates, nurses, pharmacists, and nurse practitioners.

Learning Objectives

At the conclusion of this activity, the learner will be better able to:

  • Differentiate 5α-reductase type 2 deficiency from other disorders of sex development based on genotype, hormonal profile, and phenotypic presentation across developmental stages. 

  • Apply evidence-based clinical and ethical frameworks to guide sex assignment, endocrine therapy, and surgical intervention in patients with 5α-reductase type 2 deficiency.

  • Interpret the diagnostic utility of biochemical assays and genetic testing to confirm 5α-reductase type 2 deficiency and inform individualized treatment.

  • Collaborate with interprofessional team members, including endocrinologists, urologists, genetic counselors, mental health professionals, and ethicists to formulate and implement coordinated, culturally sensitive care plans for individuals with disorders of sexual development.

Disclosures

StatPearls, LLC requires everyone who influences the content of an educational activity to disclose relevant financial relationships with ineligible companies that have occurred within the past 24 months. Ineligible companies are organizations whose primary business is producing, marketing, selling, re-selling, or distributing healthcare products used by or on patients. All relevant conflict(s) of interest have been mitigated. Hover over contributor names for financial disclosures. Others involved in planning this educational activity have no relevant financial relationships to disclose.

Commercial Support: This activity has received NO commercial support.

Continuing Education Accreditation Information

In support of improving patient care, StatPearls, LLC 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.

 

Physicians and Physician Associates: StatPearls, LLC designates this enduring material for a maximum of 1.00 AMA PRA Category 1 Credit(s)TM. Physicians and PAs should only claim credit commensurate with the extent of their participation in the activity.

American Board of Anesthesiology: This activity contributes to the CME component of the American Board of Anesthesiology’s redesigned Maintenance of Certification in AnesthesiologyTM (MOCA®) program, known as MOCA 2.0®. Please consult the ABA website, www.theABA.org, for a list of all MOCA 2.0 requirements.

American Board of Internal Medicine: Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to 1.00 MOC points in the American Board of Internal Medicine’s (ABIM) Maintenance of Certification (MOC) program. It is the CME activity provider’s responsibility to submit participant completion information to ACCME for the purpose of granting ABIM MOC credit.

American Board of Otolaryngology–Head and Neck Surgery: Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn their required annual part II self-assessment credit in the American Board of Otolaryngology–Head and Neck Surgery’s Continuing Certification program (formerly known as MOC). It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of recognizing participation.

American Board of Pathology: Successful completion of this Continuing Certification activity, which includes participation in the evaluation component, enables the participant to earn up to 1.00 Lifelong Learning (CME) credits in the American Board of Pathology’s Continuing Certification Program.

American Board of Pediatrics: Successful completion of this CME activity, which includes participation in the evaluation component, enables the learner to earn up to 1.00 MOC points in the American Board of Pediatrics’ (ABP) Maintenance of Certification (MOC) program. It is the CME activity provider’s responsibility to submit learner completion information to ACCME for the purpose of granting ABP MOC credit.

American Board of Surgery: Successful completion of this CME activity, which includes participation in the evaluation component, enables the learner to earn credit toward the CME and Self-Assessment requirement(s) of the American Board of Surgery’s Continuous Certification program. It is the CME activity provider's responsibility to submit learner completion information to ACCME for the purpose of granting ABS credit.

Royal College of Physicians and Surgeons of Canada: Through an agreement between the Accreditation Council for Continuing Medical Education and the Royal College of Physicians and Surgeons of Canada, medical practitioners participating in the Royal College MOC Program may record completion of accredited activities registered under the ACCME’s “CME in Support of MOC” program in Section 3 of the Royal College’s MOC Program.

Please consult your professional licensing board for information on the applicability and acceptance of continuing education credit for this activity.

Method of Participation and Credit

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  2. Review the target audience, learning objectives, and disclosure information.
  3. Study the educational content of the enduring material.
  4. Choose the best answer to each activity test question. To receive credit and a certificate, you must pass the test questions with a minimum score of 100%.
  5. Complete the post-activity assessment survey.

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Disclaimer

This educational activity was planned and produced in accordance with the ACCME Standards for Integrity and Independence in Accredited Continuing Education. Faculty may discuss investigational products or off-label uses of products regulated by the FDA. Readers should verify all information before employing any therapies described in this educational activity.

The information provided for this activity is for continuing education purposes only and is not meant to substitute for the independent medical/clinical judgment of a healthcare provider relative to diagnostic and treatment options of a specific patient’s medical condition. The information presented does not necessarily reflect the views of StatPearls or any commercial supporters of educational activities on statpearls.com. StatPearls expressly disclaims responsibility for any adverse consequences resulting directly or indirectly from information in the course, for undetected error, or through a participant's misunderstanding of the content.

Unapproved Uses of Drugs/Devices: In accordance with FDA requirements, the audience is advised that information presented in this continuing education activity may contain references to unlabeled or unapproved uses of drugs or devices. Please refer to the FDA-approved package insert for each drug/device for full prescribing/utilization information.

Cancellation Policy: Please see the cancellation policy. StatPearls, LLC reserves the right to cancel any course due to unforeseen circumstances.

 

 
 

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Unlimited Physician CME

Stay up to date on the latest medical knowledge with 6344 CME activities. In these online self-assessment activities, read our reference articles and test your knowledge with more than 7563 hours of CME.

Learn About Lifetime CME

Single Activity

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$49 1 activity

6 Month Unlimited Physician CME

Access to all the Unlimited Physician CME activities in all specialties.

$399 per half year per user

1 Year Unlimited Physician CME

Access to all the Unlimited Physician CME activities in all specialties.

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