Table 1.

Endocrine Screening in FA

	Annual Screening for All	Detailed Testing in Some Patients
Growth	Height, weight, review of growth chart, BMI monitoring, assess Tanner stage, and nutritional intake	For growth failure: · IGF-1, IGFBP3 · BA radiograph · FT4, TSH For suspected GHD: · GH stimulation tests · Pituitary MRI if there is evidence of any pituitary hormone deficiency
Glucose, insulin, and lipid metabolism	Home glucometer testing with pre-meal and 2-h post-meal glucose levels, HbA1c (after HCT), fasting lipid profile (after age 10 y), blood pressure	If patient is overweight/obese or hyperlipidemic: 2-h OGTT If patient had previous abnormal OGTT but is not diabetic: repeat OGTT yearly
Thyroid	Height, weight, early morning TSH, FT4	For suspected central hypothyroidism: determine ratio of 8 am TSH to afternoon TSH
Cortisol		If there is evidence of other pituitary hormone deficiency or pituitary abnormality on MRI: administer low-dose ACTH stimulation test
Puberty and gonadal function	Pubertal staging; assess menstrual history and clinical evidence for hypogonadism (after usual age of start of puberty)	If there is early/delayed puberty or suspected hypogonadism: · BA radiograph · LH, FSH, E2, and AMH (females), T and inhibin-B (males)
Bone mineral metabolism	25OHD level; assess dietary calcium and vitamin D intake	Consider DXA scan for BMD: · Every 5 y starting at age 14 y if no prior HCT · Before HCT and 1 y after HCT · Repeat in 1 y if low BMD · Every 2 y if hypogonadism or premature ovarian failure

Abbreviations: AMH, anti-Müllerian hormone; FT4, free T₄; 25OHD, 25-hydroxyvitamin D; HbA1c, glycosylated hemoglobin.