Sex differences are well known to be determinants of development, health and disease. Epigenetic mechanisms are also known to differ between men and women through X-inactivation in females. We hypothesized that epigenetic sex differences may also result from sex hormone functions, in particular from long-lasting androgen programming. We aimed at investigating whether inactivation of the androge...

Complete Androgen Insensitivity Syndrome (CAIS) is a rare X-linked recessive disorder. Patients have 46 XY karyotype, and the external genitalia of normal female. In this manuscript, we describe nine year old child diagnosed at three years age with Autoimmune Polyendocrine type-1 (APS-1). The was female no hernia. Parents initially declined any endocrine disorder in family. Genetic study, which...

Testicular feminization, or the androgen insensitivity syndrome, is a rare disease. Because of various abnormalities of the X chromosome, a male, genetically XY, has some physical characteristics of a woman or a full female phenotype. Indeed the androgen insensitivity syndrome occurs because of a resistance to the actions of the androgen hormones, which in turn switches the development towards ...

Androgen insensitivity syndrome (AIS) was first described in details by Morris [1], who provided the descriptive terms—testicular feminization syndrome for this disorder, which is inherited as X-linked recessive disorder. The underlying pathology is the inability of the end organs to respond to androgens, either due to lack of androgen cytosol receptor or defect in the receptor. Genotypically t...

Abstract Background Pathogenic variants in the androgen receptor (AR) gene located on chromosome Xq11-12, are known to cause varying degrees of undermasculinization 46, XY individuals. The aim this study was investigate frequency pathogenic AR a cohort undermasculinized individuals from Indonesia who were suspected having insensitivity syndrome (AIS). All patients with DSD referred our center b...

Genetic aberrations of the androgen receptor (AR) caused by mutations, rearrangements, and polymorphisms result in a mutant receptor that has varied functions compared to wild type AR. To date, over 1,000 mutations have been reported in the AR with most of these being associated with androgen insensitivity syndrome (AIS). While mutations of AR associated with prostate cancer occur less often in...

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Androgen receptor (AR) function is critical for the development of male reproductive organs, muscle, bone and other tissues. Functionally impaired AR results in androgen insensitivity syndrome (AIS). The interaction between AR and microRNA (miR) signaling pathways was examined to understand the role of miRs in AR function. Reduction of androgen levels in Sprague-Dawley rats by castration inhibi...

BACKGROUND Androgen insensitivity syndrome (AIS), a disorder of sexual development in 46, XY individuals, is caused by loss-of-function mutations in the androgen receptor (AR) gene. A variety of tumors have been reported in association with AIS, but no cases with colorectal cancer (CRC) have been described. CASE PRESENTATION Here, we present a male patient with AIS who developed multiple earl...