PMC10020625_01
The bone age radiograph of the patient's left wrist.
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The patient's bone age radiograph showed that there are already eight left carpal bones, which corresponds to a bone age of approximately 12.5 years according to the standard bone age atlas ( Figure 1 ).
MRI image of the pituitary gland. A nodule in the lower left pituitary is observed.
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Doppler ultrasound examination, his breast development was detected. Dynamic enhanced pituitary MRI indicated a 4x3mm nodule in the lower left pituitary, indicating a high possibility of microadenoma ( Figure 2 ).
The peak map of gene sequencing.
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Eventually, the GLI2 gene c.527A>G (p.Tyr176Cys) heterozygous mutation was detected, and the same mutation was detected in the patient's mother, which was a missense mutation in the coding region of the GLI2 gene, resulting in a change of the amino acid tyrosine to cysteine at position 176 of the encoded protein ( Figure 3 ).