Complete Androgen Insensitivity in two Filipino siblings: A case report
Philippine Journal of Internal Medicine
;
: 327-334, 2021.
Article
in English
| WPRIM
| ID: wpr-961199
ABSTRACT
@#Androgen insensitivity syndrome is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in a chromosomally male individual. We describe two phenotypically female siblings aged 27 and 18 years, who presented with primary amenorrhea. The older sibling first consulted because of her desire to be pregnant while her younger sibling consulted upon the physician’s advice. Clinical presentation, physical examination, hormonal and imaging studies and a male (46XY) karyotype confirmed the diagnosis of Complete Androgen Insensitivity Syndrome (AIS) in both individuals. Both of them underwent exploratory laparotomy with histopathology confirming presence of immature testicular tissue. Hormone replacement therapy was then started. Both were advised to undergo psychosocial counseling and both chose to be women. This case report is significant since there are only a few local case reports about siblings presenting with this condition.
Search on Google
Index:
WPRIM (Western Pacific)
Main subject:
Androgen-Insensitivity Syndrome
/
Karyotyping
Language:
English
Journal:
Philippine Journal of Internal Medicine
Year:
2021
Type:
Article
Similar
MEDLINE
...
LILACS
LIS