Androgen Insensitivity Syndrome: Drawbacks of the Medical Services Insensivity Estrogenic Placement Androgen

Androgen Insensitivity Syndrome (Testicular Feminization Syndrome, Morris syndrome), except for occasional spontaneous mutations, is an X-linked recessive genetic disorder that markedly influences sexual development in utero, during puberty and beyond with significant degree of feminization and reciprocally undermusculinzation of the extertnal genitalia. They usually have external female sex characteristics, male or ambiguous sex development. They do not have ovaries and the Mullerian structures that include the tubes, uterus, cervix and upper part of the vagina. Therefore, they do not ovulate nor gestate and bear a child contrary to the expectation of otherwise a phenotypically full-blown woman. These case reports initially presented with complaints of female sexual dysfunction with their partners failing to perform deep penetrative vaginal sexual intercourse and the personal inability of the alleged women to menstruate and also achieve a clinically verified pregnancy. With the exception of the only male patient with MAIS ( Mild Androgen Insensitivity Syndrome) with male sexual dysfunction, infertility and gynaecomastia, their sex of rearing was as women and their phenotypic presentations was like women although in retrospect their broad shoulders, medium to tall statures, ambiguous external genitlia and coarse skinfolds could trigger a rise in one’s eye brows in line with a disorder of sex development. They were married to men as females just to find out during their workup, short of the social sex, that the Y chromosome was present and their Karyotype XY, negative for Barr bodies and that they are genotypically males with Androgen Insensitivity Syndrome. In a country like ours where marriages are usually arranged at family level, the inadvertent same sex consensual marriages may remain unnoticed, undiagnosed and contributing to marital disharmony and breakdowns. In addition to the CAIS (Complete Androgen Insensitivity Syndrome) cases, we shall also


Introduction
The normal embryological development, anatomical structural setup and physiological functionality of the genital system and the germ cells developments assures and ensures the perpetuation of the human species. The sex of an individual is genetically predestined at the time of fertilization and its development is critical between 8-14 weeks of gestation in utero. If, however, the interplay of the chromosomal, chromatin and gonadal sexes are not fully and properly expressed, the alternatives of sex assignment may assume that of the sex of rearing and phenotypic appearance (social sex) of the individual [1][2][3][4][5][6][7].
It is not an uncommon societal practice in Ethiopia to assign sex of the opposite gender, out of shear desire of the family, when the offspring are repetitively of the same sex. Their hairdos, dressings and behaviours tend to simulate the assigned sex and These case reports initially presented with complaints of female sexual dysfunction with their partners failing to perform deep penetrative vaginal sexual intercourse and the personal inability of the alleged women to menstruate and also achieve a clinically verified pregnancy. With the exception of the only male patient with MAIS ( Mild Androgen Insensitivity Syndrome) with male sexual dysfunction, infertility and gynaecomastia, their sex of rearing was as women and their phenotypic presentations was like women although in retrospect their broad shoulders, medium to tall statures, ambiguous external genitlia and coarse skinfolds could trigger a rise in one's eye brows in line with a disorder of sex development. They were married to men as females just to find out during their workup, short of the social sex, that the Y chromosome was present and their Karyotype XY, negative for Barr bodies and that they are genotypically males with Androgen Insensitivity Syndrome. In a country like ours where marriages are usually arranged at family level, the inadvertent same sex consensual marriages may remain unnoticed, undiagnosed and contributing to marital disharmony and breakdowns.
In addition to the CAIS (Complete Androgen Insensitivity Syndrome) cases, we shall also include the only MAIS obese, inferile male client with severe gynaecomastia and a micropenis. No such cases have been published in Ethiopia and this presentation will illucidate the pitfalls of the medical services vis-à-vis the psychosocial and psychosexual orientation of the population and the available medical services.
are addressed as a she-woman in case of a male and a he-man if a girl. It is a traditional practice that does not entail discrimination, stigmatization, abuses or legal challenges. The reversal of roles usually resumes and normalise after puberty. Androgen Insensitivity syndrome (AIS), the largest single entity which is a rare sex-linked recessive inheritance formerly referred to as Testicular Feminization Syndrome (TFS) or Morris syndrome is a form of a disorder of sex development that results in a complete or partial inability of the body cell to respond to the male hormone, androgens. It thus occurs in more frequently with phenotypically women segment of the population with well-developed secondary sex characteristics that includes normal breast development, normal or ambiguous external genitalia, a vagina of variable depth, absent uterus, sparse or absent pubic and axillary hair. Thus, the testes do not normally develop and function like a male and the individual will develop female genital organs whether the ovaries are present or not, thereby depicting the female sex as a neutral sex.
The male testes could be abdominal, inguinal or labial in locations and functionally will be redundant and not expressed as a male. The penis does not form or is underdeveloped (micropenis), and the child may appear female or end up with an ambiguous external genitalia [5,7,8].
AIS is divided into three categories that includes CAIS with the external genitalia being complete female and testosterone has   A right-sided retroperitoneal mass with invasion of the right renal hilum was also diagnosed. The karyotyping appears to be 46 XY. for discussion from our perspective. As in our subjects, they are sterile as they lack the structures, being incapable of contributing an egg towards conception or inherently experiencing impaired spermatogenesis and hence not capable of gestating of own or surrogate a child of others [13,14]. at birth and early neonatal health care service providers whether paediatricians or gynaecologists [12,[15][16][17][18][19][20].
Primary amenorrhoea at puberty, the absence of pubic and axillary hair, no temporal balding and coarseness of the skin texture may herald the likelihood of the presence of a disorder of sex development. In the best interest of parents and specialists, paediatric age groups ought to be examined and make sure that such disorders are excluded. We were not very much impressed with the height and weight of the patients since only one of them was noticeably tall and sturdy. to the patients. It was not an easy undertaking in our situation as sexuality is very much self-contained, not expressed in any form at its highest level from rights perspective and as such difficult to manage as was the case in our patients [9,10,16,24,25].
Clitoral length and width are shorter in CAIS because of the absence of prenatal and postnatal action of androgens. A monthly testosterone injection may be useful when given especially for MAIS cases under the assumption that it may improve their spermatogenesis and male sexual function. Sex hormone at pubery and beyond for the females should be provided in a form of estragon replacement therapy as they are predisposed for osteoporosis and ethinylestradiol of 2 ug daily from 11 years onward with incremental doses to reach to a daily dose of 30ug is a well thought of approach [26,27]. Genetic counselling is essential and psychological support and openness in disclosure as part of a multipronged multidisciplinary approach is highly advocated.
The focused and highly individualized management scheme is the central theme to be strived at but above all the diagnosis should never come so late.