Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature
نویسندگان
چکیده
Müllerian inhibiting factor that induces regression of Müllerian ducts that in females would differentiate into the uterus. These processes for sex determination do not occur in females in the absence of SRY. Sex differentiation related genes such as SOX9, FGF9, DAX1, WT1, RSPO1, and SOX10, which are located on either autosomes or the X chromosome, may have a role in gonad development and function. These genes were studied in Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature
منابع مشابه
A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication
The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male syndrome, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients; however, approximately 20% of patients with 46,XX testicular DSD are SRY-negative. The SRY-box 9 (SOX9) gene has se...
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Virilisation of the XX foetus is the result of androgen excess, resulting most frequently from congenital adrenal hyperplasia in individuals with typical ovarian differentiation. In rare cases, 46,XX gonads may differentiate into testes, a condition known as 46,XX testicular disorders of sex development (DSD), or give rise to the coexistence of ovarian and testicular tissue, a condition known a...
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BACKGROUND 46,XX testicular disorder of sex development is a rare genetic syndrome, characterized by a complete or partial mismatch between genetic sex and phenotypic sex, which results in infertility because of the absence of the azoospermia factor region in the long arm of Y chromosome. CASE PRESENTATION We report a case of a 14-year-old male with microorchidism and mild bilateral gynecomas...
متن کاملSRY-negative 46,XX male with normal genitals, complete masculinization and infertility.
XX maleness is a rare syndrome with a frequency of 1 in 20,000-25,000 males. XX males exist in different clinical categories with ambiguous genitalia or partially to fully mature male genitalia, in combination with complete or incomplete masculinization. In this study, we report a case of SRY-negative XX male with complete masculinization but infertility. The patient had fully mature male genit...
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Background: Disorders of sex development (DSD) are a medical condition that affects the normal process of sexual Various of the genes needed for gonad development have been identified by investigation of patients with disorders sex development (DSD).Phenotypes of patients with 46,XY DSD range from atonalism in female phenotype with complete external genitalia to male phenotype with testicular...
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