Version July 2025
| Infancy | Childhood (approximately 2 to 9 years) | Peripuberty (approximately 9 to 11 years) | Adolescence (approximately 12 to 17 years) | Young adulthood (approximately 18 to 21 years) | Adulthood | |
| Minimum visit frequency* | Every 3 to 6 months | Every 6 to 12 months | Every 12 months | Every 2 years | ||
| History | ||||||
| Feeding concerns and/or hypoglycemia symptoms | Every visit | |||||
| Sleep concerns; sleep disordered breathing | Every visit | Every 3 to 5 years or other risk factors | ||||
| Lymphedema and skin concerns | Annually | |||||
| Musculoskeletal (pain, fractures) | Annually | |||||
| Ear infections; hearing concerns | Annually | |||||
| Symptoms of autoimmune disease | If high risk¶ | Annually | ||||
| Lifestyle (diet and physical activity) | Annually | |||||
| Developmental and/or academic concerns | Every 3 months | Annually | ||||
| Psychosocial concerns | Annually | |||||
| Physical examination | ||||||
| Weight, height, and weight-for-length or BMI | Every 3 months | Every 6 months | Every 6 to 12 months | Annually | ||
| Blood pressure | Annually | |||||
| Complete cardiovascular examinationΔ | Neonatal | If clinically indicated | Once | If clinically indicated | Once | Every 5 to 10 years |
| Ophthalmology examination | 6 to 12 months | As needed if not done in infancy, new concerns, or follow-up of abnormalities | ||||
| Otoscopy | Annually and with symptoms | If clinically indicated | ||||
| Hip stability | <6 months | |||||
| Back (scoliosis) | Annually until linear growth complete | |||||
| Dental examination and care | Every 6 to 12 months | |||||
| Orthodontic examination | After primary tooth loss | If clinically indicated | ||||
| Breast examination | If clinically indicated | Every 6 to 12 months for pubertal staging | Per local recommendations | |||
| Laboratory | ||||||
| Prefeed blood glucose | First 48 hours | If clinically indicated | ||||
| Anti-Müllerian hormone (AMH) | Consider annually | Offer annually if POI not already established | ||||
| Follicle-stimulating hormone (FSH) | 4 to 12 weeks◊ | Annually | If clinically indicated | |||
| Estradiol (E2) | 4 to 12 weeks◊ | To assist with HRT | Every 5 years to evaluate HRT dose; if clinically indicated | |||
| Thyroid-stimulating hormone (TSH) | Every 1 to 2 years and with new symptoms | |||||
| Tissue transglutaminase (TTG) IgA + total IgA | Every 2 to 5 years and with new symptoms | |||||
| Liver enzymes (ALT ± AST, GGT, alkaline phosphatase) | Once | Once | Every 1 to 2 years | |||
| HbA1c and/or fasting glucose | If clinically indicated | Once | Every 1 to 2 years and with new symptoms | |||
| Complete blood count (CBC) | If clinically indicated | Once | Every 1 to 2 years | |||
| 25-hydroxyvitamin D§ | If clinically indicated | Once | Every 2 to 3 years | |||
| Lipid profile (total cholesterol, triglycerides, HDL) | Per local recommendations | Once | Every 3 years | |||
| Insulin-like growth factor 1 (IGF-1) | Annually if on growth hormone | |||||
| Urine analysis | If kidney anomaly is present | Annually if clinically indicated | Annually if clinically indicated | |||
| Diagnostics | ||||||
| Kidney ultrasound | At diagnosis; repeat if new diagnosis of hypertension or recurrent urinary tract infections | |||||
| Electrocardiogram (ECG) | Once | Once | If clinically indicated | Once | Every 5 to 10 years | |
| Echocardiogram | 2 to 3 days of age | If clinically indicated | Once | If clinically indicated | Once | Every 5 to 10 years |
| Cardiac magnetic resonance (CMR) | If clinically indicated | Once after growth complete | Before planned pregnancy; if clinically indicated | |||
| Tympanometry | Annually until 5 years | If clinically indicated | ||||
| Behavioral audiogram | Every 2 to 3 years and if concerns for hearing | Every 5 years and with symptoms of hearing loss | ||||
| Uterine ultrasound | To assist with HRT | If clinically indicated (abnormal uterine bleeding, etc) | ||||
| DXA: spine and hip | Once¥ | Every 5 to 10 years | ||||
| Comprehensive neuropsychological assessment | Once at 5 to 11 years of age‡ | Once | ||||
| Psychosocial screening/evaluations | Refer to the ‡ footnote definition | |||||
| Counseling | ||||||
| Healthy lifestyle (diet, physical activity) | Annually | |||||
| Genetic counseling | With caregivers at diagnosis and as needed | With patient and as needed | If new diagnosis, preconception planning, and as needed | |||
| Transition planning | Start discussing transition at approximately 12 to 15 years | Continue transition and transfer | ||||
| Fertility counseling | At diagnosis with family; as developmentally appropriate (patient) | With patient and as needed | If clinically indicated | |||
| Sexual health and sexual well-being | Intermittently | |||||
| Contraception/preconception counseling | If clinically indicated | Prior to pregnancy | ||||
This table represents a suggested approach to routine outpatient care of persons with Turner syndrome (TS) who do not have identified pathology including (but not limited to) congenital heart disease, structural kidney anomalies, hearing loss, hypertension, autoimmune disease, etc. In patients with these conditions (or other chronic disease), the relevant clinical guidelines should be followed. White boxes are universal recommendations in TS (as permitted by clinical environment and available resources), yellow-shaded boxes may be recommended in specific circumstances, and orange-shaded boxes are generally not recommended. "If clinically indicated" means that there are indications other than a TS diagnosis alone, such as other risk factors or symptoms.
ADHD: attention deficit hyperactivity disorder; ALT: alanine aminotransferase; AST: aspartate aminotransferase; BMI: body mass index; DXA: dual-energy X-ray absorptiometry; GGT: gamma-glutamyl transferase; HbA1c: hemoglobin A1c; HDL: high-density lipoprotein; HRT: hormone replacement therapy; IgA: immunoglobulin A; POI: premature ovarian insufficiency.
* Visits do not necessarily need to occur with a specific specialist, but clinicians should be familiar with TS care and competent to conduct the recommended evaluations.
¶ Examples of high risk include presence of one or more autoimmune conditions, strong family history of autoimmunity, isochromosome, etc.
Δ Complete cardiovascular examination includes auscultation, femoral pulses, four extremity blood pressure, pulse oximetry.
◊ Obtaining laboratory tests during the mini-puberty period of infancy offers an opportunity to evaluate ovarian function at a time when the hypothalamic-pituitary-gonadal axis is active; however, clinical significance has not yet been shown.
§ Alternatively, universal vitamin D supplementation may be advised rather than laboratory assessment.
¥ Calculate height-adjusted Z-score; obtain baseline T-score.
‡ Neurocognitive and neuropsychological screening and counseling may include (at the time of diagnosis [as applicable]): anticipatory guidance about the course of TS, developmental milestone assessment, assessment for learning differences (including ADHD and nonverbal learning disorders), screening for social cognition deficits (eg, autism spectrum disorder), screening for mood disorders (anxiety/depression), reproductive/sexual health counseling, and counseling about the transition to adult care. Patients in whom there are concerns about neuropsychological development from clinicians, parents/caregivers, or teachers should undergo a comprehensive neuropsychological evaluation. Screening is repeated periodically throughout childhood and adolescence. Please refer to table 18 in European Journal of Endocrinology's 2024 "Clinical practice guidelines for the care of girls and women with Turner syndrome: Proceedings from the 2023 Aarhus International Turner Syndrome Meeting."
