Müllerian agenesis with hypohidrotic ectodermal dysplasia syndrome.
OBJECTIVE
To describe the association of müllerian agenesis with hypohidrotic ectodermal dysplasia.


METHODS
Case report.


METHODS
University medical center.


METHODS
A 17-year-old woman with hypohidrotic ectodermal dysplasia referred for evaluation of primary amenorrhea.


METHODS
History, physical examination, and ultrasound.


METHODS
Physical findings of these two syndromes.


RESULTS
Physical examination and ultrasound demonstrated müllerian agenesis with findings of hypohidrotic ectodermal dysplasia.


CONCLUSIONS
This is the first description of the association of müllerian agenesis with ectodermal dysplasia. This rare case might provide further insight into the development of the uterus and the ectoderm as well as its derivatives.
Sanford School of Medicine, University of South Dakota, Sioux Falls, South Dakota 57105, USA.
Katie
K
Whaley
Jordan
J
Winter
Kathleen M
KM
Eyster
Keith A
KA
Hansen
D000293:Adolescent; D000568:Amenorrhea / Q000209:etiology; D004476:Ectodermal Dysplasia / Q000150:complications / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007007:Hypohidrosis / Q000150:complications / Q000151:congenital / Q000175:diagnosis*; D009095:Mullerian Ducts / Q000002:abnormalities* / Q000000981:diagnostic imaging; D010808:Physical Examination; D014463:Ultrasonography