نتایج جستجو برای: androgen insensitivity
تعداد نتایج: 29101 فیلتر نتایج به سال:
We present clinical findings and molecular characterization in two patients previously diagnosed as 46,XY female gonadal dysgenesis with germ cell tumour. Both patients showed a female general phenotype with unambiguously female external genitalia and primary amenorrhoea compatible with complete androgen insensitivity syndrome. The first patient, at the age of 31 years, developed a dysgerminoma...
CONTEXT Only approximately 85% of patients with a clinical diagnosis complete androgen insensitivity syndrome and less than 30% with partial androgen insensitivity syndrome can be explained by inactivating mutations in the androgen receptor (AR) gene. OBJECTIVE The objective of the study was to clarify this discrepancy by in vitro determination of AR transcriptional activity in individuals wi...
The article presents a clinical observation of an extremely rare in gynecological practice androgen insensitivity syndrome (AIS). authors give data on the pathogenesis disease, modern classification and terminology various forms this pathology. phenotypic manifestations results instrumental studies surgical treatment are described. study show possibility diagnosis AIS timely patients with patho...
Laparoscopic orchiectomy was performed in a 16-year-old patient with complete androgen insensitivity syndrome. Pathology revealed in situ carcinoma of the seminiferous tubules.
This review paper highlights important diagnostic and therapeutic concerns for girls with Complete Androgen Insensitivity Syndrome (CAIS). CAIS is an androgen receptor defect disorder associated with vaginal and uterine agenesis in women with a 46,XY karyotype. The major clinical issues surrounding this syndrome include timing of gonadectomy, hormone replacement, vaginal dilation, and attention...
Genetic, gonadal, phenotypic and psychological genderis the basis for gender assignment to an individual. Derangement in genetic makeup, under or over exposure to sex hormones and problems related to sex hormone receptors will lead to abnormal development of the external and internal genitalia. Failure to respond for the endogenous androgen, Androgen Insensitivity Syndrome is one of the common ...
Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome
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