Complexity in the diagnosis and management of 45,X Turner Syndrome mosaicism

Abstract

Diagnosis, decision making, and counseling for patients with disorders of sexual development pose challenges for physicians and families. Accurate antenatal evaluation combined with effective communication between the family and multidisciplinary team is important to provide the best patient outcome. We reviewed 2 cases from our institution that illustrate the complexity of antenatal and postnatal management in Turner Syndrome patients who have 45,X mosaicism. We concluded that because of the complexity involved in providing appropriate care to these individuals, it is critical that accurate and universally accessible counseling materials are available to providers and families at the time of diagnosis and management decision making.