M¨¹llerian agenesis with hypohidrotic ectodermal dysplasia syndrome

详细信息    查看全文

• 作者：Katie Whaley ; B.S.^a ; Jordan Winter ; M.D.^b ; Kathleen M. Eyster ; Ph.D.^a ; Keith A. Hansen ; M.D.^a ; ^{kahansen@usd.edu}
• 关键词：Ectoderm ; hypohidrotic ectodermal dysplasia ; mesoderm ; mü ; llerian agenesis
• 刊名：Fertility and Sterility
• 出版年：2012
• 出版时间：April, 2012
• 年：2012
• 卷：97
• 期：4
• 页码：948-949
• 全文大小：60 K

文摘

| ReferencesReferences

Objective

To describe the association of m¨¹llerian 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 m¨¹llerian agenesis with findings of hypohidrotic ectodermal dysplasia.

Conclusion(s)

This is the first description of the association of m¨¹llerian 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.