Mullerian agenesis with hypohidrotic ectodermal dysplasia syndrome

Objective: To describe the association of mullerian 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 mullerian agenesis with findings of hypohidrotic ectodermal dysplasia. Conclusion(s): This is the first description of the association of mullerian 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. (Fertil Steril (R) 2012; 97: 948-9. (C) 2012 by American Society for Reproductive Medicine.)