case_images: PMC10884290_01
case_images: Chromosome analysis reveals an abnormal karyotype 47, XXY.
case_images: fneur-15-1340694-g001.jpg
case_images: PMC10884290_01_fneur-15-1340694-g001.jpg
case_images: fig1
case_images: Chromosome analysis revealed an abnormal karyotype 47, XXY and he was diagnosed with Klinefelter syndrome (Figure 1).
case_images: Family tree. The patient's maternal uncle was diagnosed with SBMA.
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case_images: PMC10884290_01_fneur-15-1340694-g002.jpg
case_images: fig2
case_images: During this initial visit, we noticed that he had a family history of SBMA: his maternal uncle was diagnosed with SBMA at age 47 and was treated with LHRH analogs (Figure 2).
case_images: Polymerase chain reaction test using capillary electrophoresis (A) shows the expansion of 46 CAG repeats. Only one peak was detected, indicating that both alleles of the AR gene had the same expanded CAG repeats. Normal control is shown in the lower panel (B).
case_images: fneur-15-1340694-g003.jpg
case_images: PMC10884290_01_fneur-15-1340694-g003.jpg
case_images: fig3
case_images: Only one peak was detected in the polymerase chain reaction test using capillary electrophoresis, indicating that both alleles of the AR gene had the same expanded CAG repeats (Figure 3).
case_images: Timeline of evaluations and diagnosis. Serum CK levels and motor symptoms worsened after the initiation of androgen replacement therapy. Upon the discontinuation of androgen replacement therapy and initiation of leuprorelin, the serum CK levels decreased and symptoms became stable.
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case_images: PMC10884290_01_fneur-15-1340694-g004.jpg
case_images: fig4
case_images: SBMA. Since that time, his symptoms have remained stable, his CK levels have trended downward, and his testosterone is now at a castrate level (Figure 4).