Management of Turner syndrome in adult life and beyond

Abstract

Objective: To describe in practical terms the clinical management in adult life of patients with Turner syndrome.

Material & methods: Systematic review of the literature and practical issues. An evaluation of clinical trials, meta-analysis, case reports and reviews assessing the management of different conditions related to Turner syndrome was done using the following data sources: Medline, PubMed (from 1966 to July 2014) and the Cochrane Controlled Clinical Trials Register, Embase (up to July 2014).

Results: Extracted information is summarized here on karyotype, screening of malformations, malformations debuting in adult life, final height, treatments with growth hormone, cardiovascular risk, endocrino-metabolic and liver abnormalities, sensorineural disorders and osteoporosis and its treatment.

Conclusions: This review provides recommendations for the management of adult patients with Turner syndrome and insight into the associated medical complaints. A link between karyotypes and clinical features suggests a novel hypothesis to explain the different phenotypes and clinical abnormalities of these patients.

Keywords: Congenital malformations; Gonadal dysgenesis; Metabolic abnormalities; Osteoporosis; Primary amenorrhea; Turner syndrome.