17 alpha-hydroxylase deficiency differential diagnosis: Difference between revisions

Jump to navigation Jump to search
No edit summary
No edit summary
Line 30: Line 30:
|3-beta-hydroxysteroid dehydrogenase type 2 deficiency  
|3-beta-hydroxysteroid dehydrogenase type 2 deficiency  
|
|
* HSD3B2  [[gene]] [[mutation]]
* HSD3B2  gene mutation
|
|
* Undervirilization in 46,XY individuals due to a block in testosterone biosynthesis.
* Undervirilization in 46,XY individuals due to a block in testosterone biosynthesis.
Line 43: Line 43:
|17-alpha-hydroxylase deficiency  
|17-alpha-hydroxylase deficiency  
|
|
* [[CYP17A1|CYP17A1 gene mutation]]
* CYP17A1 gene mutation
|
|
* Female external genitalia
* Female external genitalia
Line 60: Line 60:
|[[Gonadal dysgenesis]]
|[[Gonadal dysgenesis]]
|
|
* Mutations in [[SRY]], FOG2/ZFPM2, and WNT1
* Mutations in SRY, FOG2/ZFPM2, and WNT1
|
|
* Female external genitalia  
* Female external genitalia  
Line 75: Line 75:
|[[Testicular regression syndrome]]
|[[Testicular regression syndrome]]
|
|
* Loss of [[testicular]] function and tissue early in development  
* Loss of testicular function and tissue early in development  
|
|
* Female phenotype with atrophic Müllerian ducts.
* Female phenotype with atrophic Müllerian ducts.
Line 87: Line 87:
|[[LH receptor|LH receptor defects]]
|[[LH receptor|LH receptor defects]]
|
|
* [[LH receptor]] [[gene]] [[mutation]] on [[chromosome 2]]
* LH receptor gene mutation on chromosome 2p21
|
|
* Female external genitalia  
* Female external genitalia  
Line 102: Line 102:
|XY
|XY
|-
|-
|[[5-alpha-reductase deficiency|5-alpha-reductase type 2 deficiency]]
|5-alpha-reductase type 2 deficiency
|
|
* [[Autosomal recessive]]
* Autosomal recessive
|
|
* Female external genitalia or ambiguous  
* Female external genitalia or ambiguous  
Line 119: Line 119:
|XY
|XY
|-
|-
|[[Androgen insensitivity syndrome]] 
|Androgen insensitivity syndrome 
|
|
* [[Androgen receptor]] defect
* Androgen receptor defect
|
|
* Female external genitalia
* Female external genitalia
Line 132: Line 132:
|XY
|XY
|-
|-
|[[Mullerian agenesis]]
|Mullerian agenesis
|
|
* Mutations in ''[[WNT4]]''
* Mutations in ''WNT4''
|
|
* Normal female genitalia
* Normal female genitalia
Line 145: Line 145:
|XX
|XX
|-
|-
|[[Ovarian insufficiency|Primary ovarian insufficiency]]
|Primary ovarian insufficiency
|
|
* [[Genetic defects]] such as [[turner syndrome]], [[fragile X syndrome]], some other chromosomal defects
* Genetic defects such as turner syndrome, fragile X syndrome, some other chromosomal defects
|
|Normal female genitalia
* Normal female genitalia
|Yes
|Yes
|Yes
|Yes
Line 157: Line 156:
|XX
|XX
|-
|-
|[[Hypogonadotropic hypogonadism]]
|Hypogonadotropic hypogonadism
|
|
* Functional, sellar masses
* Functional, sellar masses
|
|Normal female genitalia,
* Normal female genitalia,
No puberty
 
* No puberty
|Yes
|Yes
|No
|No
Line 171: Line 168:
|XX
|XX
|-
|-
|[[Turner syndrome]]
|Turner syndrome
|
|
* Chromosomal
* Chromosomal
|
|
* Female external genitalia
|Yes
|Yes
|Yes
|Yes

Revision as of 14:37, 7 August 2017

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.[1]

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 Pregnancy, androgen insensitivity syndrome, 3-beta-hydroxysteroid dehydrogenase type 2 deficiency, 17-alpha-hydroxylase deficiency, gonadal dysgenesis, testicular regression syndrome, LH receptor defects, 5-alpha-reductase type 2 deficiency, AMH receptor defect,

Mullerian agenesis

, [2]

Disease name Cause Differentiating
Findings Uterus Breast development Testosterone LH FSH Karyotyping
Pregnancy HCG positive
3-beta-hydroxysteroid dehydrogenase type 2 deficiency
  • HSD3B2 gene mutation
  • Undervirilization in 46,XY individuals due to a block in testosterone biosynthesis.
  • Mild virilization in 46,XX individuals
Yes in female Yes in female Low Normal Normal XY and XX
17-alpha-hydroxylase deficiency
  • CYP17A1 gene mutation
  • Female external genitalia
  • Primary amenorrhea
  • Hypertension
  • Absence of secondary sexual characteristics
  • Minimal body hair
No No Low Normal Normal XY
Gonadal dysgenesis
  • Mutations in SRY, FOG2/ZFPM2, and WNT1
  • Female external genitalia
  • Intact Mullerian ducts
  • Streak gonads
  • karyotyping
Yes Yes Low High High XY
Testicular regression syndrome
  • Loss of testicular function and tissue early in development
  • Female phenotype with atrophic Müllerian ducts.
No No Low High High XY
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:
    • Unresponsiveness to hCG
    • Normal levels of testosterone precursors (produced in the adrenal glands).
No No High High XY
5-alpha-reductase type 2 deficiency
  • Autosomal recessive
  • Female external genitalia or ambiguous
  • Bilateral testes and normal testosterone formation
  • Impaired external virilization during embryogenesis
  • Defective conversion of testosterone to DHT.
  • Testosterone:DHT ratio is >10:1
No No High to normal High to normal XY
Androgen insensitivity syndrome 
  • Androgen receptor defect
  • Female external genitalia
  • Resistant to testosterone
No Yes Normal male range XY
Mullerian agenesis
  • Mutations in WNT4
  • Normal female genitalia
  • Normal breast development
No Yes Normal female range Normal XX
Primary ovarian insufficiency
  • Genetic defects such as turner syndrome, fragile X syndrome, some other chromosomal defects
Normal female genitalia Yes Yes Normal female range High High XX
Hypogonadotropic hypogonadism
  • Functional, sellar masses
Normal female genitalia,

No puberty

Yes No Normal female range Low Normal XX
Turner syndrome
  • Chromosomal
Yes Yes Normal female range High High XO

References

  1. Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. Wikipedia (2016. https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_17_alpha-hydroxylase_deficiency Accessed on February 4, 2016
  2. Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, Fenichel P, Cartigny M, Pienkowski C, Polak M, Skordis N, Mazen I, Ocal G, Berberoglu M, Reynaud R, Baumann C, Cabrol S, Simon D, Kayemba-Kay's K, De Kerdanet M, Kurtz F, Leheup B, Heinrichs C, Tenoutasse S, Van Vliet G, Grüters A, Eunice M, Ammini AC, Hafez M, Hochberg Z, Einaudi S, Al Mawlawi H, Nuñez CJ, Servant N, Lumbroso S, Paris F, Sultan C (2011). "Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients". J. Clin. Endocrinol. Metab. 96 (2): 296–307. doi:10.1210/jc.2010-1024. PMID 21147889.