Müllerian agenesis with hypohidrotic ectodermal dysplasia syndrome

The coexistence of m€ullerian agenesis and ectodermal dysplasia suggests a role in disrupted ectodermalmesodermal communication as a cause of this combination of anomalies.

Authors

Katie Whaley, B.S., Jordan Winter, M.D., Kathleen M. Eyster, Ph.D., Keith A. Hansen, M.D.

Volume 97, Issue 4, Pages 948-949

Abstract

Objective:

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

Design:

Case report.

Setting:

University medical center.

Patient(s):

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

Intervention(s):

History, physical examination, and ultrasound.

Main Outcome Measure(s):

Physical findings of these two syndromes.

Result(s):

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

Conclusion(s):

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.

Read the full text at: http://www.fertstert.org/article/S0015-0282(12)00176-8/fulltext