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. 2022 Jul 12;17(Suppl 1):261. doi: 10.1186/s13023-022-02423-5
Neonatal  < 6 years 6–12 years 12–18 years Adult
Detailed clinical examination, BP, screening for strabismus, kyphosis, scoliosis X X X X X
Standard and Turner growth curves X X X X
FSH ± LH ± estradiol ± AMH

X

FSH, LH

X

FSH, LH

X

E2, FSH, LH, AMH

X

E2, FSH, LH, AMH

X

E2, FSH, LH, AMH

TSH, ± FT4  > 4 years X X X
Anti-TPO antibodies  > 4 years X X X
HbA1c ± fasting blood glucose X (> 10 years) X X
 ± fasting insulin (HOMA)
 ± OGTT Before rhGH treatment if blood glucose and/or HbA1c levels are high Before rhGH treatment if blood glucose and/or HbA1c levels are high Before rhGH treatment if blood glucose and/or HbA1c levels are high
AST, ALT, Gamma-GT, alkaline phosphatase

X

 > 6 years

X X
IgA antitransglutaminases

X

(> 2 years)

X X

X

As a function of symptoms

IgA total
Blood creatinine microalbumin/creatinine in urine If renal malformation If renal malformation or HT If renal malformation or HT If renal malformation or HT If renal malformation or HT
Total cholesterol/HDLc/LDLc/triglycerides X X
CBC X X X
25(OH)D X X X X
Thrombophilia panel Before estrogen/estrogen-progesterone treatments if there are thromboembolic risk factors (in first-degree relative) Before estrogen/estrogen-progesterone treatments if there are thromboembolic risk factors (in first-degree relative)
Cardiology consultation X X X X X
Echocardiogram X X X X X
Electrocardiogram X X X X X
Aortic and cardiac MRI As advised by the cardiologist As advised by the cardiologist As advised by the cardiologist As advised by the cardiologist
Renal ultrasound X X X X X
Thyroid ultrasound If dysthyroidism or nodule If dysthyroidism or nodule If dysthyroidism or nodule If dysthyroidism or nodule
Bone age X X X
Pelvic ultrasound After puberty X
Bone densitometry After puberty X
ENT consultation and hearing assessment (adapted to age) X X X X
Ophthalmologic consultation If suspicious signs 12–15 months and 3–4 yrs If sensory or motor abnormality If sensory or motor abnormality If sensory or motor abnormality
Dental consultation ± panoramic X ray of dentition If there is a clinical abnormality X X X
Consultation with a dietitian If overweight, carbohydrate intolerance, diabetes, dyslipidemia

Psychological consultation

 ± psychometric tests

Parents, if necessary X X X X
Therapeutic education Parents, if necessary X X X X