Table 3.

Recommended assessment of additional organ functions

OrganAssessmentInterval
Growth Height, weight, and body mass index Yearly ×2 
Hormone levels if short stature (IGF-1 and IGFBP-3) Subsequently yearly if abnormal and within growth period 
Bone age  
Thyroid function Thyroid-stimulating hormone At 6 months, 1 year, and then annually 
Free thyroxine level  
Glucose metabolism Fasting blood sugar Annual 
Glucose tolerance test As needed 
Lipid metabolism Fasting lipid panel Annual 
Bone health Vitamin D3 level Annual 
Bone mineral density 2 years and subsequently if intervention planned 
Dental health Dental evaluation Annual 
Visual function Vision test Annual 
Glaucoma screening  
Retinal vessel assessment  
Iron accumulation Serum ferritin and transferrin saturation Before intervention 
Cardiac and liver MRI 6 months, 1 year, and yearly until normal with therapy/phlebotomy 
OrganAssessmentInterval
Growth Height, weight, and body mass index Yearly ×2 
Hormone levels if short stature (IGF-1 and IGFBP-3) Subsequently yearly if abnormal and within growth period 
Bone age  
Thyroid function Thyroid-stimulating hormone At 6 months, 1 year, and then annually 
Free thyroxine level  
Glucose metabolism Fasting blood sugar Annual 
Glucose tolerance test As needed 
Lipid metabolism Fasting lipid panel Annual 
Bone health Vitamin D3 level Annual 
Bone mineral density 2 years and subsequently if intervention planned 
Dental health Dental evaluation Annual 
Visual function Vision test Annual 
Glaucoma screening  
Retinal vessel assessment  
Iron accumulation Serum ferritin and transferrin saturation Before intervention 
Cardiac and liver MRI 6 months, 1 year, and yearly until normal with therapy/phlebotomy 

IGF-1, insulin-like growth factor 1; IGFBP-3, insulin-like growth factor binding protein-3.

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