In some cases, 46, XY females do form a vestigial uterus and have been able to gestate children. A 46,XY female, thus, does not have ovaries, and can not contribute an egg towards conception. The signal disruption could not be corrected by supplementation with any coactivators known at the time, nor was the absent coactivator protein characterized, which left some in the field unconvinced that a mutant coactivator would explain the mechanism of androgen resistance in CAIS or PAIS patients with a typical AR gene. A coactivator protein interacting with the activation function 1 (AF-1) transactivation domain of the androgen receptor may have been deficient in this patient. In another patient, CAIS was the result of a deficit in the transmission of a transactivating signal from the N-terminal region of the androgen receptor to the basal transcription machinery of the cell. In addition, the viability of male germ cells in CAIS is restricted to the first two years of life and for fertility in adult life germ cells should be preserved before this age (46). In CAIS, there is absence of uterus and testes histology reveals incomplete spermatogenesis, increased fibrosis, Leydig cell hyperplasia and low frequency of spermatogonia conferring a very low potential to fertility. The strategy to obtain fertility in AIS individuals has not been defined yet (52). The low incidence of GCTs in CAIS individuals can be explain by the rapid decline of germ cells after the first year of life (46). There is only one documented report of an invasive yolk-sac tumor in a CAIS individual before puberty. Therefore, mutations in the androgen receptor gene have been searched in order to identify possible causes for male infertility. In females, the purpose is the development of secondary sexual characteristics and an adequate and bone mass (2). Sex assignment, external genitalia adequacy for social sex, hormonal replacement, psychosexual outcome, ideal time for gonadectomy, infertility and genetic counseling are issues that need attention in AIS care. Elevated serum AMH and testosterone levels in a newborn suggest the diagnosis of androgen insensitivity and also exclude the diagnosis of complete gonadal dysgenesis (23). Patients with AIS developed breasts with estradiol levels in normal male range suggesting that the lack of androgen action is the main driver of breast development in these patients, rather than an increased estrogen secretion. Androgen Insensitivity Syndrome (AIS) is an X-linked genetic disease and it is the most common cause of disorders of sex development (DSD) in 46,XY individuals (1). During fetal development, a specific and unique environment of hormones results in male or female differentiation of sexual anatomy. DHT (dihydrotestosterone) is a hormone that plays a key role in male sexual development. The androgen sensitivity index (ASI), defined as the product of luteinizing hormone (LH) and testosterone (T), is frequently raised in individuals with all forms of AIS, including MAIS, although many individuals with MAIS have an ASI in the normal range. AIS was first described by Morris, in 1953, with the clinical description of 82 female patients with testes but female phenotype and for this reason Morris named the syndrome as testicular feminization (4). Areas of management include sex assignment, genitoplasty, gonadectomy in relation to tumor risk, hormone replacement therapy, genetic counseling, and psychological counseling.citation needed Mutations in the androgen receptor gene can cause problems with any of the steps involved in androgenization, from the synthesis of the androgen receptor protein itself, through the transcriptional ability of the dimerized, androgen-AR complex. If this enzyme is absent or deficient, then dihydrotestosterone is not created, and the external male genitalia do not develop properly. In the presence of testosterone and functional androgen receptors, the Wolffian ducts develop into the epididymides, vasa deferentia, and seminal vesicles. Without this anti-Müllerian hormone, the Müllerian ducts develop into the female internal genitalia (uterus, cervix, fallopian tubes, and upper vaginal barrel).
