OBJECTIVE: To explore the clinical features and genetic basis of a male patient with Kennedy disease(KD) presenting as secondary infertility. METHODS: A male patient who had presented at Yantai Yuhuangding Hospital in August 2023 for secondary infertility for 5 years was selected as the study subject. Clinical data, laboratory findings, and auxiliary examination of the patient were collected. Peripheral blood samples were obtained from the patient and his family members. Following DNA extraction, whole-exome sequencing (WES) was carried out. Pathogenicity of candidate variant was predicted by bioinformatics analysis. Fluorescence probe PCR-capillary electrophoresis was employed to analyze the trinucleotide CAG repeat sequence variation in the AR gene to rule out dynamic mutation. This study was approved by the Ethics Committee of Yantai Yuhuangding Hospital (Ethics No.: 2024-697). RESULTS: The patient had presented with non-obstructive azoospermia and elevated androgen sensitivity index. Ultrasound scan indicated small testicular volume and seminal vesicle atrophy. WES and bioinformatics analysis revealed abnormal amplification in the patient's AR gene. Fluorescence probe PCR and capillary electrophoresis confirmed that both the proband and his nephew had harbored 52 CAG trinucleotide repeats in exon 1 of the AR gene, confirming the diagnosis of KD. The proband's mother, elder sister, and daughter were identified as carriers of the variant, while his second elder sister did not carry the mutation. CONCLUSION As a rare X-linked recessive genetic disease, KD mainly manifests with muscle weakness, myasthenia gravis and myofascial tremor, while cases with infertility and non-obstructive azoospermia as the initial symptoms are rare and can be easily missed. Diagnosis made by genetic testing needs to be taken seriously by the clinicians.
Humans ; Male ; Bulbo-Spinal Atrophy, X-Linked/diagnosis* ; Adult ; Infertility, Male/genetics* ; Receptors, Androgen/genetics* ; Exome Sequencing ; Mutation ; Pedigree ; Trinucleotide Repeats

Objective: To observe the effects of music electro-acupuncture and pulsed electro-acupuncture on locomotor avtivity and hippocampal astrocytes in fast-aging (SAMP8) mice, and to compare the anti-dementia mechanism.Methods: Thirty 8-month-old male SAMP8 mice were randomly divided into model group (group M), music electroacupuncture group (group MA), pulsed electro-acupuncture group (group EA) (n=10), with homologous normal aging SAMR1 mice as control group (group C) (n=10) . Acupuncture stimulation was applied to"Baihui" (GV20) 、"Yintang" (GV29) and"Renzhong" (DU26) for 20 min per day for 15 days. The Morris water maze was used to assess learningmemorize ability. Immunohistochemical DAB staining was used to observe GFAP exptession in hippocampus. Detect GFAP protein levels by Western blot in hippocampus. Results: The Morris water maze test showed: Compared with group C, the escape latency were increased (P ＜ 0.01), swimming distance were increased in space exploration experiment in group M (P ＜ 0.01) . Compared with group M, the escape latency were reduced in group MA and EA (P ＜ 0.01, P ＜ 0.05) and the swimming distance were shortened (all P ＜ 0.05) . The immunohistochemical DAB staining showed: Compared with group C, the average optical density of GFAP in the hippocampal CA1 area of group M increased significantly (P ＜0.01); the optical density of GFAP in CA1 area of hippocampus in both groups MA and EA was significantly decreased (all P ＜ 0.01), while the optical density of GFAP in MA group was lower than that of EA group (P ＜ 0.05) . Western blot test showed: Compared with group C, the expression of GFAP protein obviously increased (P ＜ 0.01) . Compared with group M, the expression of GFAP protein obviously decreased and had a downregulation tendency in group MA and EA (all P ＜ 0.05), while the expression of GFAP protein decreased in MA group compare with EA group (P ＜ 0.05) .Conclusion: Both music electro-acupuncture and pulsed electro-acupuncture can improve the learning and memory abilities of SAMP8 mice and decrease the expression of GFAP, which may be related to its mechanism of reducing neuroinflammatory reaction, improving apoptosis and eventually protecting neurons, and music electro-acupuncture has a better tendency than pulsed electro-acupuncture.