SRY-negative 46,XX male with normal genitals, complete masculinization and infertility
نویسندگان
چکیده
منابع مشابه
SRY-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...
متن کاملPrimary infertility in a phenotypic male with 46XX chromosomal constitution.
The case of a 32 year old male with normal male adrenarchal hair pattern, bilateral gynaecomastia, a small phallus, hypospadias and bilateral poorly developed testes presenting with primary infertility secondary to azoospermia and a pelvic cyst is described. Repeated chromosomal analysis showed 46XX chromosomal constitution. Laparotomy revealed a simple cyst between the urinary bladder and the ...
متن کاملXX males SRY negative: a confirmed cause of infertility
BACKGROUND SOX9 is a widely expressed transcription factor playing several relevant functions during development and essential for testes differentiation. It is considered to be the direct target gene of the protein encoded by SRY and its overexpression in an XX murine gonad can lead to male development in the absence of Sry. Recently, a family was reported with a 178 kb duplication in the gene...
متن کاملThree cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature
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 funct...
متن کاملXX males without SRY gene and with infertility.
The case of a 28 year old male with normal male phenotype, in whom repeated seminal analysis showed complete azoospermia, is presented. Peripheral blood culture for chromosome studies revealed 46 chromosomes with XX constitution. Polymerase chain reaction (PCR) analysis of genomic DNA failed to detect the presence of the sex-determining region of the Y chromosome (SRY). A literature review of a...
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ژورنال
عنوان ژورنال: Molecular Human Reproduction
سال: 2006
ISSN: 1360-9947,1460-2407
DOI: 10.1093/molehr/gal030