Complexity in the Diagnosis and Management of 45,X Turner Syndrome Mosaicism

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...

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Published inUrology (Ridgewood, N.J.) Vol. 84; no. 4; pp. 919 - 921
Main Authors Radtke, Andrew C, Sauder, Christina, Rehm, Jennifer L, McKenna, Patrick H
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.10.2014
Subjects
Humans
Infant, Newborn
Karyotyping
Mosaicism
Turner Syndrome - diagnosis
Turner Syndrome - genetics
Turner Syndrome - therapy
Urology
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Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
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ISSN:0090-4295
1527-9995
DOI:10.1016/j.urology.2014.06.030