Endocrinal description of two Chinese Kennedy's disease pedigrees.

Journal of Clinical Neuroscience(2018)

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摘要
•Pedigree 1 is the first Chinese KD pedigree to be diagnosed by endocrinologists.•We suggest that KD should be systematically considered in patients with gynaecomastia, sexual dysfunction, increased serum CK levels and neuromuscular complaints or a positive family history of neuromuscular disease.•The hormonal profile of KD patients without endocrinal complaints also revealed evidence of partial androgen insensitivity. Hence, we suggest that more attention should be paid to endocrinal disorders in KD patients.
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关键词
Muscular Disorders, Atrophic,Receptors, Androgen,Gynaecomastia,Sexual dysfunction,Genetic screening,Genes,Genetic diseases, X-linked
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