17 alpha-hydroxylase deficiency differential diagnosis

Congenital adrenal hyperplasia main page
17 alpha-hydroxylase deficiency Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating 17 alpha-hydroxylase deficiency from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Physical Examination
Laboratory Findings
CT
MRI
Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
17 alpha-hydroxylase deficiency differential diagnosis On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of 17 alpha-hydroxylase deficiency differential diagnosis All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on 17 alpha-hydroxylase deficiency differential diagnosis
CDC on 17 alpha-hydroxylase deficiency differential diagnosis
17 alpha-hydroxylase deficiency differential diagnosis in the news
Blogs on 17 alpha-hydroxylase deficiency differential diagnosis
Directions to Hospitals Treating Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency
Risk calculators and risk factors for 17 alpha-hydroxylase deficiency differential diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]

Overview

Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency must be differentiated from other diseases that cause similar clinical features, such as 5-alpha-reductase deficiency and hypogonadism.

Differentiating 17 alpha-hydroxylase deficiency from other Diseases

17 alpha-hydroxylase deficiency must be differentiated from diseases with primary amenorrhea, in female phenotype. These diseases include androgen insensitivity syndrome,

Category	Disease name	Cause	Differentiating
Congenital adrenal hyperplasia	3-beta-hydroxysteroid dehydrogenase type 2 deficiency	HSD3B2 gene mutation		XY and XX
	17-alpha-hydroxylase deficiency	CYP17A1 gene mutation	In addition to primary amenorrhea: hypertension (which can be severe), absence of secondary sexual characteristics, or minimal body hair	XY
Disorders with abnormal testicular activity	Gonadal dysgenesis	Undeveloped gonads	Female external genitalia Intact Mullerian ducts Streak gonads karyotyping	XY
	Testicular regression syndrome	Loss of testicular function and tissue early in development	Female phenotype with atrophic Müllerian ducts.	XY
Disorders with abnormal androgen synthesis or response	LH receptor defects	LH receptor gene mutation on chromosome 2p21	Female external genitalia Lack a uterus and fallopian tubes Epididymis and vas deferens may be present Laboratory evaluation: Low testosterone Elevated concentration of LH Unresponsiveness to hCG Normal levels of testosterone precursors (produced in the adrenal glands).
	5-alpha-reductase type 2 deficiency	Autosomal recessive	Female external genitalia Bilateral testes and normal testosterone formation Impaired external virilization during embryogenesis Defective conversion of testosterone to DHT. Testosterone:DHT ratio is >10:1
	Androgen insensitivity		Female external genitalia
	AMH receptor defect