Androgen insensitivity syndrome physical examination

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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 (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype.

Physical Examination

Following physical examination findings are observed:

• Extragenital abnormalities are absent.
• A pair of nondysplastic testes.
• The presence of short vagina and absence of or rudimentary müllerian structures (i.e., Fallopian tubes, uterus, and cervix).
• Undermasculinization of external genitalia at birth.
• To some extent, impaired virilization is observed at puberty whch includes impaired spermatogenesis and/or somatic virilization.
• In an adolescent female, CAIS typically presents as primary amenorrhoea and in infancy it presents less commonly with bilateral inguinal/labial swellings due to testes.
• In partial androgen insensitivity syndrome (PAIS), mild differences in the genital structure is observed.
• Phallus is smaller than a typical penis but larger than a typical clitoris. The labioscrotal folds are almost but not completely fused in the midline of the perineum, producing a small perineal pouch termed a "pseudovagina". Instead of being on the tip of the phallus, the urethra remains in this pseudovagina of the perineum (a position termed a 3rd degree hypospadias). The labioscrotal skin flanking the pseudovagina remains less prominent than labia but less thinned, rugated, and fused than a scrotum. The testes usually remain in the abdomen but occasionally can be felt in the inguinal canal. This genital configuration has traditionally been referred to as a pseudovaginal perineoscrotal hypospadias (PPSH) and can occur in other intersex conditions. - in Reifenstein syndrome.
• Variants of Reifenstein syndrome occur with greater or less androgen sensitivity and correspondingly more or less genital masculinization. The common feature is that they have enough ambiguity that they are not simply assumed to be normal female infants, as is usual in CAIS and PAIS.

Classification of Androgen Insensitivity Syndrome Phenotypes:'

Classification of Androgen Insensitivity Syndrome Phenotypes
Type	External Genitalia	Findings
CAIS - (Complete androgen insensitivity syndrome)	Female (“testicular feminization”)	Absent or rudimentary wolffian duct derivatives. Absence or presence of epididymides and/or vas deferens. Inguinal, labial, or abdominal testes. Short blind-ending vagina. Scant OR absent pubic AND/OR axillary hair.
Predominantly female (“incomplete AIS”)	Inguinal OR labial testes. Clitoromegaly and labial fusion. Distinct urethral and vaginal openings OR a urogenital sinus.
PAIS - (Partial androgen insensitivity syndrome)	Ambiguous	Microphallus (<1 cm) with clitoris-like underdeveloped glans; labia majora-like bifid scrotum. Descended OR undescended testes. Perineoscrotal hypospadias OR urogenital sinus. Gynecomastia (development of breasts) in puberty.
Predominantly male	Simple (glandular or penile) OR severe (perineal) “isolated” hypospadias with a normal-sized penis and descended testes OR severe hypospadias with micropenis, bifid scrotum, and either descended OR undescended testes. Gynecomastia in puberty.
MAIS - (Mild androgen insensitivity syndrome)	Male (“undervirilized male syndrome”)	Impaired spermatogenesis AND/OR impaired pubertal virilization. Gynecomastia in puberty.