Objective: To explore the relationship between micropenis and chromosomal karyotype abnormality.
Methods: We collected the clinical data on 375 children with congenital micropenis treated in Wuhan Children's Hospital from July 2018 to April 2020, analyzed their chromosomal karyotype in the peripheral blood lymphocytes and investigated the correlation of chromosomal karyotype abnormality with micropenis.
Results: Of the 375 cases of micropenis, 28 (7.5%) were found with chromosomal karyotype abnormality, including 21 cases of abnormal sex chromosomal karyotype (2 cases of 47,XXY, 1 case of 47,XYY, 1 case of 48,XXXY, 12 cases of 46,X,Yqh-, 4 cases of 46,X,Yqh+, and 1 case of 46,X,inv［Y］［p11q11］), accounting for 75% of the total cases of abnormal karyotype. Autosomal karyotype abnormality was detected in 7 cases, constituting 25% of the total cases of abnormal karyotype, including 2 cases of 46,XY,inv (9)(p12q13), 1 case of 46,XY,14pstk +, 1 case of 46,XY,15cenh +, 1 case of 46,XY,15ps +, 1 case of 46,XY,13pstk +, and 1 case of 46,XY,1qh +. The detection rate of abnormal sex chromosomal karyotype was significantly higher than that of autosomal abnormal karyotype.
Conclusions: Chromosomal karyotype abnormality, especially the abnormal karyotype of sex chromosome, can cause the abnormality of the reproductive organ, which may be one of the important causes of micropenis.
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