We studied a family with two cousins who were diagnosed with complete androgen insensitivity syndrome, an X-linked disorder caused by mutations in the androgen receptor gene. A pedigree analysis and a molecular study using PCR and DNA sequencing clarified each female family member's androgen receptor status and revealed a mutation consisting of the deletion of exon 2 and surrounding introns of ...

Androgen insensitivity (testicular feminization) syndrome is a rare inherited form of male pseudohermaphroditism that occurs in phenotypically normal woman with male karyotype (XY). The undescended testis may go into malignant transformation. The androgen insensitivity syndrome with malignant testicular disorder is very rare. A thirty-one year old female was admitted to the hospital with the co...

Androgen insensitivity (testicular feminization) syndrome is a rare inherited form of male pseudohermaphroditism that occurs in phenotypically normal women with adequate breast development, normal external genitalia, a vagina of variable depth, absent uterus, and sparse or absent pubic hair and axillary hair. These patients have male karyotype (XY) and negative sex chromatin. The gonad (undesce...

INTRODUCTION Androgen is a generic term usually applied to describe a group of sex steroid hormones. Androgens are responsible for male sex differentiation during embryogenesis at the sixth or seventh week of gestation, triggering the development of the testes and penis in male fetuses, and are directed by the testicular determining factor: the gene SRY (sex determining region on Y chromosome) ...

BACKGROUND Understanding how androgen receptor (AR) function is modulated by exposure to steroids, growth factors or small molecules can have important mechanistic implications for AR-related disease therapies (e.g., prostate cancer, androgen insensitivity syndrome, AIS), and in the analysis of environmental endocrine disruptors. METHODOLOGY/PRINCIPAL FINDINGS We report the development of a h...

The US has witnessed significant growth among urban American Indian (AI) populations in recent decades, and concerns have been raised that these populations face equal or greater degrees of disadvantage than their reservation counterparts. Surprisingly little urban AI research or community work has been documented in the literature, and even less has been written about the influences of urban s...

The present experiment investigated whether the gambling of American Indian (AI) and non-AI participants would be sensitive to the actions and/or ethnicity of another gambler (i.e., a confederate) when playing a slot-machine simulation. Eight male AIs and eight male non-AIs participated in five gambling sessions. In one, the participant gambled alone. In the other four, the participant played i...

abnormalities. Therefore, the proband was confirmed to have AIS by clinical presentations, biochemistry, ultrasonography, and pathology. Genomic DNA was extracted from peripheral blood leukocytes using standard methods. All eight exons of AR were amplified by polymerase chain reaction (PCR) using appropriate primers designed by Primer Premier and Oligo (Premier Biosoft Co. Ltd., Palo Alto, Cali...

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...

The partial androgen insensitivity syndrome occurs in 46,XY subjects with phenotypes ranging from perineoscrotal hypospadias with cryptorchidism and micropenis (mild undervirilisation) to clitoromegaly and partial labial fusion (marked undervirilisation). Within an affected family, wide variation in the degree of genital ambiguity between individuals can be seen. Two cousins of a previously rep...