A Case of 46,XY Female Sexual Reversal Syndrome and Literature Review

doi:10.12280/gjszjk.20220259

Abstract

Abstract:

By reviewing the clinical data of an adolescent female with primary amenorrhea, including the abdominal color ultrasound, chromosomal karyotype and peripheral blood chromosomal aberration detection (chip) analysis, and by reviewing the related literature, we discussed the clinical etiology, diagnosis and treatment of 46,XY female sex inversion. Abdominal color ultrasound showed no sexual organs; karyotype was 46,X,max?; and chromosomal aberration detection (chip) analysis of peripheral blood was 46,XY. Therefore, the clinical etiology of this child is related to the abnormal process of chromosomal sex-determining gonadal differentiation. Traditional karyotype detection has certain limitations, and the peripheral blood chromosomal aberration detection (chip) analysis can be used to identify the cause.

Key words: Abnormal karyotype, Sex inversion syndrome, Karyotyping, Sexual development, Primary amenorrhea

HE Juan-juan, LIU Kun, WANG Pei-chen, SHEN Meng-dan, ZHANG Xue-hong. A Case of 46,XY Female Sexual Reversal Syndrome and Literature Review[J]. Journal of International Reproductive Health/Family Planning, 2022, 41(5): 386-388.

Figures/Tables 2

References 7

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