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androgen insensitivity syndrome; testicular feminization syndrome; Goldberg-Maxwell syndrome
Genetics:
- XY male
- associated with defects in androgen receptor
Clinical manifestations:
1) can be
a) complete: when external genitalia are phenotypically female
b) partial: when external genitalia are substantively ambiguous
c) mild when external genitalia are normal male or nearly so
2) partial to full breast development
3) primary amenorrhea
4) ambiguous genitalia
5) hypospadius
Laboratory:
1) increased serum LH
2) moderately increased serum testosterone
3) variable FSH levels
4) azoospermia
Complications:
-> gonadal tumors
Management:
1) surgery
2) rearing in accordance with their phenotype
3) hormonal replacement therapy if feminine phenotype
Related
androgen or anabolic steroid
hypospadius
Specific
partial androgen insensitivity (Reifenstein syndrome)
General
genetic disease of the endocrine system
Database Correlations
OMIM correlations
References
- Medical Knowledge Self Assessment Program (MKSAP) 11, American
College of Physicians, Philadelphia 1998
- Wikipedia: Androgen insensitivity syndrome
https://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome