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Checklist

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This document provides a checklist for healthcare professionals to use during patient visits for individuals with Turner syndrome. The checklist includes various aspects of medical history, genetic testing, physical examinations, and evaluations for different conditions. Some of the items on the checklist include reviewing and documenting the patient's medical and developmental history, reviewing genetic testing results, documenting the clinical phenotype, performing echocardiogram and renal ultrasound evaluations, monitoring blood pressure, height, weight, growth velocity, and pubertal development at each visit.<br /><br />Additionally, the checklist suggests considerations for further evaluations and referrals, such as referral for laparoscopic gonadectomy if Y-chromosome material is present, evaluating for congenital hip dysplasia in newborns, referral to endocrinology by a certain age, skeletal assessments including spine radiographs at specific time periods, thyroid function tests and lipid profile annually, liver function tests and diabetes screening, and measurement of 25-hydroxyvitamin D levels every few years.<br /><br />The checklist also recommends evaluations for cardiac, ophthalmologic, and audiology conditions at specific time intervals, monitoring skin findings, screening for celiac disease, and assessing bone mineral density in adulthood. It suggests documenting educational and social progress annually and providing Turner syndrome literature to the patient and their family. Additionally, it states the need for a preconception cardiac evaluation with MRI of the aorta and discussing the increased risk of fatal cardiac events during pregnancy. Finally, it suggests referring individuals to fertility specialists for evaluation of ovarian function and discussing reproductive options, as well as providing psychological support and/or referral to support groups.<br /><br />Overall, this checklist aims to ensure comprehensive and regular care for individuals with Turner syndrome, covering various medical, developmental, and psychological aspects.

Keywords

healthcare professionals

Turner syndrome

checklist

genetic testing

physical examinations

evaluations

blood pressure

pubertal development

bone mineral density

psychological support