PMC9772268_01
Pedigree of the family in the present study. (Patients with typical clinical symptoms of AHC are shown by darkened symbols. The black arrow indicates the proband.).
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Sanger sequencing of NR0B1 revealed an inserted mutation (c.572_575dup) in exon 1, resulting in a frameshift with premature termination (p.Thr193GlyfsX13,  Supplementary Figure 1 ).
PMC9772268_02
Pedigree of the family in the present study. (Patients with typical clinical symptoms of AHC are shown by darkened symbols. The black arrow indicates the proband.).
fendo-13-961322-g001.jpg
PMC9772268_02_fendo-13-961322-g001.jpg
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Sanger sequencing of NR0B1 revealed an inserted mutation (c.572_575dup) in exon 1, resulting in a frameshift with premature termination (p.Thr193GlyfsX13,  Supplementary Figure 1 ).
Radiographs of the patient with AHC. (A-D) Multiple vertebral compression fractures. (E, F) The white arrow shows the pseudofracture line in the left and right femurs. (G) Right femoral shaft fracture at the site of the pseudofracture line. (H) Right femoral shaft fracture after internal fixation. (I, J) The white arrow shows that the adrenal glands on both sides were small, and the structure was unclear. (K) Right femoral shaft fracture healing in 2022.
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Imaging examination indicated multiple compression fractures of the thoracolumbar spine and crumpled adrenal glands without calcification ( Figure 2 ), which were detected by x-ray, bone scintigraphy, and abdominal CT scans. Aclasta, Novartis Pharma Stein AG, Switzerland) yearly was recommended in the next year. After treatment with zoledronic acid for nearly 1 year, the patient complained of pain in the right proximal femur, and a pseudofracture line was detected by x-ray ( Figure 2E ). AFF occurred in the right femur at the site of the pseudofracture line due to an accidental fall, and internal fixation was performed ( Figure 2H ). A pseudofracture line in the middle of the left femur and a significant decrease in
Bone turnover markers during treatment (alendronate orally at the beginning of treatment; a single infusion of intravenous zoledronic acid by the 12th month; right femur fracture by the 14th month; atypical fracture of left femur by the 20th month; menatetrenone orally by the 21st month). beta-CTX: beta-isomerized C-terminal telopeptide of type I collagen; OC: serum osteocalcin in the form of an N-terminal mid-molecule fragment.
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During the subsequent follow-up, the level of serum osteocalcin was significantly elevated, bone pain was relieved, and no pathological fractures appeared ( Figure 3 ).