Turner syndrome dating

Increased nuchal translucency on ultrasound is frequently seen in TS but may also be observed in autosomal trisomy syndromes.

The presence of cystic hygromas make the diagnosis of TS more likely (8).

Synthesis of the section reports and final revisions were reviewed by e-mail and approved by whole-group consensus.

We suggest that caregivers address the prospect of premature ovarian failure in an open and sensitive manner and emphasize the critical importance of estrogen treatment for feminization and for bone health during the adult years.All individuals with TS require continued monitoring of hearing and thyroid function throughout the lifespan.We suggest that adults with TS be monitored for aortic enlargement, hypertension, diabetes, and dyslipidemia.Individuals with a 45, X cell population but without clinical features are not considered to have TS.Phenotypic males are also excluded from the diagnosis of TS, regardless of karyotype.The paper is divided into sections addressing 1) diagnostic issues, 2) congenital cardiovascular disease, 3) growth and development, 4) psychological and educational issues, and 5) TS in adulthood.The diagnosis of TS requires the presence of characteristic physical features in phenotypic females (3, 4) coupled with complete or partial absence of the second sex chromosome, with or without cell line mosaicism (5).TURNER SYNDROME (TS) affects approximately one in 2500 live-born females (1).This disorder presents the clinician with a challenging array of genetic, developmental, endocrine, cardiovascular, psychosocial, and reproductive issues.Discussions at this conference and the ensuing recommendations have been based upon recent, peer-reviewed scientific publications.However, there are very few TS studies that would qualify as guidance for evidence-based recommendations, and hence most of the following guidelines represent the experts’ consensus judgments given the best information available.

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