17 alpha-hydroxylase deficiency differential diagnosis: Difference between revisions

Jump to navigation Jump to search
Line 23: Line 23:
![[FSH]]  
![[FSH]]  
![[Karyotyping]]
![[Karyotyping]]
|-
| colspan="2" |[[Pregnancy]]
| colspan="7" |[[HCG]] positive
|-
|-
|3-beta-hydroxysteroid dehydrogenase type 2 deficiency  
|3-beta-hydroxysteroid dehydrogenase type 2 deficiency  
Line 33: Line 30:
* [[Undervirilization]] in 46,XY individuals due to a block in [[testosterone]] biosynthesis.
* [[Undervirilization]] in 46,XY individuals due to a block in [[testosterone]] biosynthesis.
* Mild [[virilization]] in 46,XX individuals
* Mild [[virilization]] in 46,XX individuals
|Yes in [[female]]
| align="center" style="padding: 5px 5px; background: " |
|Yes in [[female]]
Yes in [[female]]
|Low
| align="center" style="padding: 5px 5px; background: " |
|Normal
Yes in [[female]]
|Normal
| align="center" style="padding: 5px 5px; background: " |
|[[XY]] and [[XX]]
Low
| align="center" style="padding: 5px 5px; background: " |
Normal
| align="center" style="padding: 5px 5px; background: " |
Normal
|align="center" style="padding: 5px 5px; background: " |
[[XY]] and [[XX]]
|-
|-
|[[17-alpha-hydroxylase deficiency]]  
|[[17-alpha-hydroxylase deficiency]]  
Line 50: Line 53:
* Absence of secondary [[sexual characteristics]]
* Absence of secondary [[sexual characteristics]]
* Minimal [[body hair]]
* Minimal [[body hair]]
|No
| align="center" style="padding: 5px 5px; background: " |
|No
No
|Low
| align="center" style="padding: 5px 5px; background: " |
|Normal
No
|Normal
| align="center" style="padding: 5px 5px; background: " |
|[[XY]]
Low
| align="center" style="padding: 5px 5px; background: " |
Normal
| align="center" style="padding: 5px 5px; background: " |
Normal
| align="center" style="padding: 5px 5px; background: " |
[[XY]]
|-
|-
|[[Gonadal dysgenesis]]
|[[Gonadal dysgenesis]]
Line 65: Line 74:
* [[Streak gonads]]
* [[Streak gonads]]
* [[karyotyping ]]
* [[karyotyping ]]
|Yes
| align="center" style="padding: 5px 5px; background: " |
|Yes
Yes
|Low
| align="center" style="padding: 5px 5px; background: " |
|High
Yes
|High
| align="center" style="padding: 5px 5px; background: " |
|[[XY]]
Low
| align="center" style="padding: 5px 5px; background: " |
High
| align="center" style="padding: 5px 5px; background: " |
High
| align="center" style="padding: 5px 5px; background: " |
[[XY]]
|-
|-
|[[Testicular regression syndrome]]
|[[Testicular regression syndrome]]
Line 77: Line 92:
|
|
* Female phenotype with atrophic [[Mullerian ducts]].
* Female phenotype with atrophic [[Mullerian ducts]].
|No
| align="center" style="padding: 5px 5px; background: " |
|No
No
|Low
| align="center" style="padding: 5px 5px; background: " |
|High
No
|High
| align="center" style="padding: 5px 5px; background: " |
|[[XY]]
Low
| align="center" style="padding: 5px 5px; background: " |
High
| align="center" style="padding: 5px 5px; background: " |
High
| align="center" style="padding: 5px 5px; background: " |
[[XY]]
|-
|-
|[[LH receptor|LH receptor defects]]
|[[LH receptor|LH receptor defects]]
Line 94: Line 115:
** Unresponsiveness to [[hCG]]  
** Unresponsiveness to [[hCG]]  
** Normal levels of [[testosterone]] precursors (produced in the [[adrenal glands]]).
** Normal levels of [[testosterone]] precursors (produced in the [[adrenal glands]]).
|No
| align="center" style="padding: 5px 5px; background: " |
|No
No
|Low
| align="center" style="padding: 5px 5px; background: " |
|High
No
|High
| align="center" style="padding: 5px 5px; background: " |
|[[XY]]
Low
| align="center" style="padding: 5px 5px; background: " |
High
| align="center" style="padding: 5px 5px; background: " |
High
| align="center" style="padding: 5px 5px; background: " |
[[XY]]
|-
|-
|[[5-alpha-reductase deficiency|5-alpha-reductase type 2 deficiency]]
|[[5-alpha-reductase deficiency|5-alpha-reductase type 2 deficiency]]
Line 111: Line 138:
* Defective conversion of [[testosterone]] to [[DHT]].  
* Defective conversion of [[testosterone]] to [[DHT]].  
* [[Testosterone]]:[[DHT]] ratio is >10:1
* [[Testosterone]]:[[DHT]] ratio is >10:1
|No
| align="center" style="padding: 5px 5px; background: " |
|No
No
|Normal male range
| align="center" style="padding: 5px 5px; background: " |
|High to normal
No
|High to normal
| align="center" style="padding: 5px 5px; background: " |
|[[XY]]
Normal male range
| align="center" style="padding: 5px 5px; background: " |
High to normal
| align="center" style="padding: 5px 5px; background: " |
High to normal
| align="center" style="padding: 5px 5px; background: " |
[[XY]]
|-
|-
|[[Androgen insensitivity syndrome]] 
|[[Androgen insensitivity syndrome]] 
Line 124: Line 157:
* Female [[external genitalia]]
* Female [[external genitalia]]
* Resistant to [[testosterone]]
* Resistant to [[testosterone]]
|No
| align="center" style="padding: 5px 5px; background: " |
|Yes
No
|Normal male range
| align="center" style="padding: 5px 5px; background: " |
|Normal
Yes
|Normal
| align="center" style="padding: 5px 5px; background: " |
|[[XY]]
Normal male range
| align="center" style="padding: 5px 5px; background: " |
Normal
| align="center" style="padding: 5px 5px; background: " |
Normal
|align="center" style="padding: 5px 5px; background: " |
[[XY]]
|-
|-
|[[Mullerian agenesis]]
|[[Mullerian agenesis]]
Line 137: Line 176:
* Normal female [[genitalia]]
* Normal female [[genitalia]]
* Normal [[breast]] development
* Normal [[breast]] development
|No
| align="center" style="padding: 5px 5px; background: " |
|Yes
No
|Normal [[female]] range
| align="center" style="padding: 5px 5px; background: " |
|Normal
Yes
|Normal
| align="center" style="padding: 5px 5px; background: " |
|[[XX]]
Normal [[female]] range
| align="center" style="padding: 5px 5px; background: " |
Normal
| align="center" style="padding: 5px 5px; background: " |
Normal
| align="center" style="padding: 5px 5px; background: " |
[[XX]]
|-
|-
|[[Ovarian insufficiency|Primary ovarian insufficiency]]
|[[Ovarian insufficiency|Primary ovarian insufficiency]]
Line 149: Line 194:
|
|
* Normal [[female genitalia]]
* Normal [[female genitalia]]
|Yes
| align="center" style="padding: 5px 5px; background: " |
|Yes
Yes
|Normal female range
| align="center" style="padding: 5px 5px; background: " |
|High
Yes
|High
| align="center" style="padding: 5px 5px; background: " |
|[[XX]]
Normal female range
| align="center" style="padding: 5px 5px; background: " |
High
| align="center" style="padding: 5px 5px; background: " |
High
| align="center" style="padding: 5px 5px; background: " |
[[XX]]
|-
|-
|[[Hypogonadotropic hypogonadism]]
|[[Hypogonadotropic hypogonadism]]
Line 162: Line 213:
* Normal [[female genitalia]],
* Normal [[female genitalia]],


* No [[puberty]]
* Delayed [[puberty]]
|Yes
| align="center" style="padding: 5px 5px; background: " |
|No
Yes
|Normal female range
| align="center" style="padding: 5px 5px; background: " |
|Low
No
|Normal
| align="center" style="padding: 5px 5px; background: " |
|[[XX]]
Normal female range
| align="center" style="padding: 5px 5px; background: " |
Low
| align="center" style="padding: 5px 5px; background: " |
Normal
| align="center" style="padding: 5px 5px; background: " |
[[XX]]
|-
|-
|[[Turner syndrome]]
| align="center" style="padding: 5px 5px; background: " |
[[Turner syndrome]]
|
|
* Chromosomal
* Chromosomal
|
|
* Female [[external genitalia]]
* Female [[external genitalia]]
|Yes
| align="center" style="padding: 5px 5px; background: " |
|Yes
Yes
|Normal [[female]] range
| align="center" style="padding: 5px 5px; background: " |
|High
Yes
|High
| align="center" style="padding: 5px 5px; background: " |
|[[Turner syndrome|45 XO]]
Normal [[female]] range
| align="center" style="padding: 5px 5px; background: " |
High
| align="center" style="padding: 5px 5px; background: " |
High
|align="center" style="padding: 5px 5px; background: " |
[[Turner syndrome|45 XO]]
|}
|}


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Revision as of 13:28, 15 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

17 alpha-hydroxylase deficiency must be differentiated from diseases with primary amenorrhea and female external genitalia. Some of these causes include Pregnancy, androgen insensitivity syndrome, 3beta-hydroxysteroid dehydrogenase type 2 deficiency, 17-alpha-hydroxylase deficiency, gonadal dysgenesis, testicular regression syndrome, LH receptor defects, 5-alpha-reductase type 2 deficiency, mullerian agenesis, primary ovarian insufficiency, hypogonadotropic hypogonadism and turner syndrome.

Differentiating 17 alpha-hydroxylase deficiency from other Diseases

17 alpha-hydroxylase deficiency must be differentiated from diseases with primary amenorrhea and female external genitalia. Some of these causes include Pregnancy, androgen insensitivity syndrome, 3beta-hydroxysteroid dehydrogenase type 2 deficiency, 17-alpha-hydroxylase deficiency, gonadal dysgenesis, testicular regression syndrome, LH receptor defects, 5-alpha-reductase type 2 deficiency, mullerian agenesis, primary ovarian insufficiency, hypogonadotropic hypogonadism and turner syndrome.[1][2][3][4][5][6][7][8]


Disease name Cause Differentiating
Findings Uterus Breast development Testosterone LH FSH Karyotyping
3-beta-hydroxysteroid dehydrogenase type 2 deficiency

Yes in female

Yes in female

Low

Normal

Normal

XY and XX

17-alpha-hydroxylase deficiency

No

No

Low

Normal

Normal

XY

Gonadal dysgenesis
  • Mutations in SRY, FOG2/ZFPM2, and WNT1

Yes

Yes

Low

High

High

XY

Testicular regression syndrome
  • Loss of testicular function and tissue early in development

No

No

Low

High

High

XY

LH receptor defects

No

No

Low

High

High

XY

5-alpha-reductase type 2 deficiency

No

No

Normal male range

High to normal

High to normal

XY

Androgen insensitivity syndrome 

No

Yes

Normal male range

Normal

Normal

XY

Mullerian agenesis

No

Yes

Normal female range

Normal

Normal

XX

Primary ovarian insufficiency

Yes

Yes

Normal female range

High

High

XX

Hypogonadotropic hypogonadism
  • Functional, sellar masses

Yes

No

Normal female range

Low

Normal

XX

Turner syndrome

  • Chromosomal

Yes

Yes

Normal female range

High

High

45 XO

References

  1. 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.
  2. Moreira AC, Leal AM, Castro M (1990). "Characterization of adrenocorticotropin secretion in a patient with 17 alpha-hydroxylase deficiency". J. Clin. Endocrinol. Metab. 71 (1): 86–91. doi:10.1210/jcem-71-1-86. PMID 2164530.
  3. Heremans GF, Moolenaar AJ, van Gelderen HH (1976). "Female phenotype in a male child due to 17-alpha-hydroxylase deficiency". Arch. Dis. Child. 51 (9): 721–3. PMC 1546244. PMID 999330.
  4. Biglieri EG (1979). "Mechanisms establishing the mineralocorticoid hormone patterns in the 17 alpha-hydroxylase deficiency syndrome". J. Steroid Biochem. 11 (1B): 653–7. PMID 226795.
  5. Saenger P (1996). "Turner's syndrome". N. Engl. J. Med. 335 (23): 1749–54. doi:10.1056/NEJM199612053352307. PMID 8929268.
  6. Bastian C, Muller JB, Lortat-Jacob S, Nihoul-Fékété C, Bignon-Topalovic J, McElreavey K, Bashamboo A, Brauner R (2015). "Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis". Fertil. Steril. 103 (5): 1297–304. doi:10.1016/j.fertnstert.2015.01.043. PMID 25813279.
  7. Imperato-McGinley J, Guerrero L, Gautier T, Peterson RE (1974). "Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism". Science. 186 (4170): 1213–5. PMID 4432067.
  8. Schnitzer JJ, Donahoe PK (2001). "Surgical treatment of congenital adrenal hyperplasia". Endocrinol. Metab. Clin. North Am. 30 (1): 137–54. PMID 11344932.