guidebook. - Fanconi Anemia Research Fund

138
Fanconi Anemia: Guidelines for Diagnosis and Management
Table 2: Endocrine Screening in Fanconi Anemia (for therapy, see
text)
Thyroid hormone
Growth hormone
Glucose and insulin
Puberty, gonadal
function
Bone mineral
Annual Screening
Height, weight
0800h TSH, FT4
Height, weight
IGF-I (if over age 4 years),
IGFBP3 if growth rate slow
One-hour post-prandial
glucose and insulin;
After HSCT, HgbA1c
may be useful
Pubertal staging
DXA every 5 years starting
at age 14 year or one year
after BMT
Repeat in one year if Z-score
below -1 SD for age and
height.
Detailed testing
Bone age x-ray every 2
years if the child is small
or puberty is early or late.
Arginine, clonidine
stimulation test
MRI pituitary if peak GH