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 should be differentiated from other more common forms of male undervirilization, including Leydig cell hypoplasia, several uncommon defects of testosterone synthesis, and 5α-reductase deficiency which can produce similar genital anatomy must be excluded.

Differentiating Androgen insensitivity syndrome from other Diseases

• Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is diagnosed in phenotypic females who exhibit amenorrhea and have a partial or complete absence of the cervix, uterus, and vagina. Individuals with MRKH can be distinguished from those with CAIS by confirmation of a 46,XX karyotype.

• Hypospadias resulting from an AR pathogenic variant (and thus a part of the spectrum of PAIS) cannot be distinguished from hypospadias resulting from other (largely undefined) causes by the examination of the genitalia alone. AR variants associated with hypospadias are likely rare.

• MAIS caused by single-nucleotide variants of AR may be clinically indistinguishable from MAIS caused by expansion of the polymorphic CAG repeat in AR. Pathogenic expansion of this triplet repeat is the cause of spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease (see Genetically Related Disorders).

• Undermasculinization of the external genitalia and pubertal undervirilization are components of many different syndromes that have no etiologic relation to AR. They may or may not have a pathogenic relation to the androgen receptor protein. The one exception is a contiguous gene deletion syndrome that includes the AR locus and results in intellectual disability and genital abnormalities.

• 46,XY infants born small for gestational age may have clinical features of PAIS with no identifiable AR pathogenic variant. It has been suggested that this association be termed ‘XY DSD with fetal growth restriction, as yet unexplained.

• 5-Alpha-Reductase Deficiency
• Klinefelter syndrome
• Mutations in SRY, NR5A1, WT1
• 17,20-lyase deficiency
• 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
• Congenital Adrenal Hyperplasia
• 17beta-hydroxysteroid dehydrogenase deficiency type 3
• Frasier syndrome
• 17-Hydroxylase Deficiency Syndrome
• p450 oxidoreductase deficiency
• Mutations in the luteinizing hormone receptor
• Smith-Lemli-Opitz syndrome
• Denys-Drash syndrome