17-Hydroxylase Deficiency

Overview

4.7 out of 5 (170 Reviews)

Credits

1.00

Pharmacology Credits

0.0

Post-Assessment Questions

5

Start Date

1 Sep 2023

Last Review Date

17 Mar 2025

Expiration Date

31 Aug 2026

Estimated Time To Finish

60 Minutes


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Activity Description

Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders caused by a deficiency in one of the enzymes required for steroid biosynthesis in the adrenal glands. The most common cause of CAH is 21-hydroxylase (21-OH) deficiency, resulting from mutations or deletions of the CYP21A2 gene, which accounts for over 90% of CAH cases. In contrast, 17-hydroxylase (17-OH) deficiency is a rare form of CAH, accounting for about 1% of cases. This condition results from biallelic mutations in the CYP17A1 gene, leading to impaired cortisol and sex steroid biosynthesis. Notably, 17-OH deficiency is not detected by newborn screening and is typically identified around puberty due to symptoms such as ambiguous genitalia, delayed sexual maturation, hypertension, or hypokalemia.

In general, 17-OH deficiency presents as sexual infantilism in individuals with both 46,XX and 46,XY chromosomes, along with hypertension and hypokalemia. In cases of partial deficiency, 46,XY individuals may also present with ambiguous genitalia. Diagnosis involves hormonal evaluation, genetic testing, and imaging. Management involves lifelong glucocorticoid replacement to suppress excess adrenocorticotropic hormone and control mineralocorticoid excess, with antihypertensives if necessary. This activity provides a comprehensive review of the etiology, epidemiology, pathophysiology, clinical features, evaluation, and treatment of 17-OH deficiency. This activity also highlights the importance of collaboration among interprofessional healthcare providers in ensuring early diagnosis, prompt management, and a thorough understanding of the prognosis and potential complications to rate patients with this rare genetic disorder.


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:

  • Identify the clinical manifestations of 17-hydroxylase deficiency, including hypertension, hypokalemia, and lack of secondary sexual development.

  • Implement appropriate glucocorticoid and sex hormone replacement therapy to manage adrenal insufficiency and promote normal sexual development.

  • Assess the need for antihypertensive therapy and adrenocorticotropic hormone stimulation tests in patients who do not achieve adequate blood pressure control with glucocorticoid replacement alone.

  • Collaborate with the interprofessional healthcare team to optimize patient outcomes and manage long-term reproductive health concerns in individuals with 17-hydroxylase deficiency.

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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.

 

Nurse Practitioners: StatPearls designates this activity for 1.00 ANCC contact hour(s), which includes 0 hour(s) of pharmacology. NPs should only claim credit commensurate with the extent of their participation in the activity.

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Unlimited Nurse Practitioner CE

Stay up to date on the latest medical knowledge with 6709 CE activities. In these online self-assessment activities, read our reference articles and test your knowledge with more than 7979.5 hours of CE.

Single Activity

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6 Month Unlimited Nurse Practitioner CE

Access to all the Unlimited Nurse Practitioner CE activities in all specialties.

$299 per half year per user

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Access to all the Unlimited Nurse Practitioner CE activities in all specialties.

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