Androgen insensitivity syndrome differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aravind Reddy Kothagadi M.B.B.S[2]

Overview

Androgen insensitivity syndrome must be differentiated from other conditions based on the genotype, phenotype and developmental characteristics.

Differentiating Androgen insensitivity syndrome from other Diseases

  • Undermasculinization of the external genitalia and pubertal undervirilization
  • 46,XY infants born small for gestational age
  • Deficiency of the 5α-reductase enzyme [2]
  • Leydig cell agenesis due to LH receptor anomalies:[2]
Disease name Cause Differentiating
Findings Uterus Breast development Testosterone LH FSH Karyotyping
Androgen insensitivity syndrome 

No

Yes

Normal male range

Normal

Normal

XY

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

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

3-beta-hydroxysteroid dehydrogenase type 2 deficiency

Yes in female

Yes in female

Low

Normal

Normal

XY and XX

References

  1. Londra L, Chuong FS, Kolp L (2015). "Mayer-Rokitansky-Kuster-Hauser syndrome: a review". Int J Womens Health. 7: 865–70. doi:10.2147/IJWH.S75637. PMC 4636170. PMID 26586965.
  2. 2.0 2.1 2.2 Mendoza N, Motos MA (2013). "Androgen insensitivity syndrome". Gynecol Endocrinol. 29 (1): 1–5. doi:10.3109/09513590.2012.705378. PMID 22812659.

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