Genetic analysis in a true hermaphrodite: A case report

International Journal of Biomedical and Advance Research

Debasis Bandopadhyay¹  Arundhati Sharma¹  Yogesh Rewari¹ 

关键词: True hermaphrodite;    Mullerian derivatives;    karyotype;    mosaicism;   

DOI  :  10.7439/ijbar.v4i12.585

学科分类：药学、药理学、毒理学（综合）

来源: Scholar Science Journals

【 摘 要 】

Background : True hermaphrodite is one of the rarest variety of disorders of sexual differentiation (DSD) and represents only 5% cases of all. True hermaphroditism is characterized by the development of ovarian and testicular tissue in the same individual. M?llerian and Wolffian structures are usually present, and external genitalia are often ambiguous. The most frequent karyotype is 46, XX or various forms of mosaicism. We report a 7yrs old child of a serving soldier reared as male. He underwent orchidectomy for right undescended testis at 18 months of age. The biopsy of the testis showed presence of granulosa cells. The external genitalia was clearly identified as male penis with hypospadius. The patient reported to us for cyto-molecular analysis. Methods : Cytogenetic analysis of peripheral blood revealed mosaic karyotype with 90% 46, XX and 10% 47, XXY cell line. Molecular method included PCR for SRY gene which showed presence of SRY gene. Conclusion : An early gender assessment of true hermaphrodites is of utmost importance for proper psychosocial development of child. Though phallic size is the single most important criteria for gender assessment, a multidisciplinary team of specialists in consultation with parents must assign sex of the child on basis of genitalia, gonads and genetic factors.

【 授权许可】

CC BY