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Androgen Resistance Syndromes - Essay Example

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Clinical syndrome of resistance to androgens (the male hormone) in human beings has been recorded for more than two hundred years. The symptom includes female appearance with both vagina and testes but without uterus, fallopian tubes or ovaries (Definition of Androgen 2011)…
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Androgen Resistance Syndromes

Download file to see previous pages... The external genitalia may appear normal but the vagina is not present or undeveloped and absence of uterus (Bakan 1985, cited in Oakes et al. 2008). The physical symptoms may vary from person to person. Resistance to androgens syndrome is also commonly known as Androgen Insensitivity Syndrome of AIS (Hughes & Deeb 2006) or Testicular feminisation (Androgen Insensitivity Syndrome 2011). Androgen Resistance (AR) syndrome is rooted in the genes of the affected individual. AIS is inherited as a “recessive X-linked single gene syndrome” that may appear in a different form in the children of the same parents (Evans 1997, cited in Diamond & Watson 2009, para. 8). Thus, the parents may raise one child as a boy and another as a girl (Evans 1997, cited in Diamond & Watson 2009). A United Kingdom AIS study on persons 16 years old or younger revealed that 59 percent of those with PAIS condition were determined as males (Viner et al. 1997, cited in Diamond & Watson 2009). However, majority of studies published with clinical-psychiatric engagement refer to persons treated and reared as females (Evans 1997, cited in Diamond & Watson 2009). Studies show that around 20 percent of girls with inguinal hernia have AIS (Androgen Insensitivity Syndrome, OII 2011). ...
It is classified as Complete AIS (CAIS) and Incomplete AIS (IAIS) (Androgen Insensitivity Syndrome 2011). CAIS hinders the growth of penis and other male characteristics, and appears to be a female (Androgen Insensitivity Syndrome 2011). It occurs in one for every 20,000 live births (Androgen Insensitivity Syndrome 2011). The incomplete form (IAIS) has varied sexual ambiguities and includes the infertile male syndrome (associated with androgen receptor disorder) and the Reifenstein syndrome (also Gilbert-Dreyfus syndrome or Lubs syndrome), a condition connected with breast growth in males, inability of one or both testes to move down into the scrotum after birth, and hypospadias (i.e. the urethra opening of the urethra is located under the penis instead of the tip) (Androgen Insensitivity Syndrome 2011). Figure 1 Graded Clinical Classification of AIS (Source: Quigley et al. 1995, cited in Diamond & Watson 2009) Quigley et al. (1995) has provided a clear depiction of AIS syndrome as shown in Figure 1. They graded the classification from 1 to 7 with increasing severity or “more defective masculini(s)ation” as follows – “a) grade 1: normal masculini(s)ation in utero, b) grade 2: male phenotype with mild defect in masculini(s)ation (e.g. isolated hypospadias), c) grade 3: male phenotype with severe defect in masculini(s)ation—small penis, perineoscrotal hypospadias, bifid scrotum or cryptorchidism, d) grade 4: severe genital ambiguity – clitoral-like phallus, labioscrotal folds, single perineal orifice, e) grade 5: female phenotype with posterior labial fusion and clitoromegaly, and f) grade 6/7: female phenotype (grade 6 if pubic hair present in adulthood, grade 7 if no pubic hair in adulthood)” ...Download file to see next pagesRead More
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