Skip to main content
. 2022 Jul 12;17(Suppl 1):261. doi: 10.1186/s13023-022-02423-5
Adult period
Endocrinology ± gynecology consultation 1-2x/year
Clinical examination 1x/year
Measurement of BP 1x/year and more frequently if on antihypertensive medication
Follow-up karyotyping (± FISH) If karyotyping was first performed more than 20 years ago
Anti-TPO antibodies AB: every 1–2 years if anti-TPO Ab testing is negative
TSH TSH, annual check if anti-TPO Ab are detected or if on levothyroxine treatment
HbA1c ± fasting blood glucose concentration 1x/year
± fasting insulinemia HbA1C once every 3 months if diabetes
Serum estradiol, FSH, LH, AMH determinations 1x/year in patients with spontaneous cycles, after such cycles have stopped for at least two months or if on estrogen-progestagen contraceptive pill
AST, ALT, Gamma-GT, alkaline phosphatase 1x/year
Creatininemia, microalbumin/creatinine in urine Frequency as advised by nephrologist (depending on the malformation)
If high blood pressure
IgA antitransglutaminases, total IgA 1 × every 2–3 years or if there are suggestive symptoms
Cholesterol (Total/HDLc/LDLc/), triglycerides 1×/year
Cardiology consultation + echocardiogram 1 × every 5 years in the absence of cardiopathy and with normal annual BP measurements
1 × every 6 months to 1×/year in cases of known cardiac disease and/or HT
Aortic and cardiac MRI As advised by the cardiologist
Thyroid ultrasound If dysthyroidism/palpated nodule/goiter
Pelvic ultrasound Pre-conception
Also helpful in the event of abnormal bleeding on THS or other gynecological symptoms
ENT consultation and hearing tests Every 2–3 years, or more frequently if recommended by the ENT specialist
Ophthalmologic consultation As a function of symptoms
Dermatological consultation As a function of symptoms
Dental consultation Annually (monitoring of periodontal condition)
Consultation with a dietitian If overweight, carbohydrate intolerance, diabetes, dyslipidemia
Psychological consultation and social worker If necessary
Therapeutic education Every 1–5 years and otherwise as needed
Routine mammograms and cervical smears Identical to recommendations for the general population
Colonoscopy Recommended every five years from the age of 45 years
Bone densitometry 1 × every 5 years (more frequent if there is an abnormality)