SPR Unknown # 86 -- FINAL

Ethan A. Smith, M.D.

C.S. Mott Children's Hospital

University of Michigan

Keywords

spr unknown 86


Publication Date: 2013-04-12

History

16 year old with primary amenorrhea

Findings

1. Ovaries and normal uterus not identified 2. T2 hyperintense, oval shaped structures in both inguinal canals

Diagnosis

Androgen insensitivity syndrome (a.k.a. testicular feminization)

Discussion

Androgen insensitivity syndrome (AIS), formerly known as testicular feminization, is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in chromosomally male individuals due to an abnormality of androgen receptors. Two types exist, depending on the amount of residual receptor function: 1) complete androgen insensitivity syndrome (CAIS); 2) partial androgen insensitivity syndrome (PAIS).

All individuals with AIS have male (46,XY) karyotypes. Individuals with complete androgen insensitivity syndrome have female external genitalia with normal labia, clitoris, and vaginal introitus. The phenotype of individuals with partial androgen insensitivity syndrome ranges from mildly virilized female external genitalia (clitorimegaly without other external anomalies) to mildly undervirilized male external genitalia (hypospadias and/or small phallus).

Files

Differential Diagnosis

Mayer-Rokitansky-Kuster-Hauser Syndome (vaginal aplasia with other müllerian duct abnormalities) – ovaries should be present.

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