androgen insensitivity syndrome; testicular feminization syndrome; Goldberg-Maxwell syndrome

Genetics

• XY male
• associated with defects in androgen receptor

Clinical manifestations

• can be
  • complete: when external genitalia are phenotypically female
  • partial: when external genitalia are substantively ambiguous
  • mild when external genitalia are normal male or nearly so
• partial to full breast development
• primary amenorrhea
• ambiguous genitalia
• hypospadius

Laboratory

• increased serum LH
• moderately increased serum testosterone
• variable FSH levels
• azoospermia

Complications

• gonadal tumors

Management

• surgery
• rearing in accordance with their phenotype
• hormonal replacement therapy if feminine phenotype

More general terms

• genetic disease of the endocrine system

More specific terms

• partial androgen insensitivity (Reifenstein syndrome)

Additional terms

• androgen or anabolic steroid
• hypospadius

Database

• OMIM: https://mirror.omim.org/entry/300068
• OMIM: https://mirror.omim.org/entry/308370