5 Androgen Insensitivity


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Part 5 of "Science & Sexuality." What can we learn about sexual development and sexual identity from XY individuals with testes who have hormone receptor molecules that don't work at all or only partly?

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  • Hi guestb39e8,

    Sorry about the late reply. I just now noticed your comment. I'm glad the slides were informative. And I’m impressed that you told your story on your blog.

    Do you have some questions about AIS that you would like answered? I would be glad to answer any questions you post as part of my blog. Also I don’t know if you realize that the slide show on AIS is just part of a series that constitute one big presentation. You can find all ten slideshows of the series on my blog.

    This PowerPoint presentation is a work in progress and I recognize that many of the slides are crude. When I can find the time, I will add narration to the slides to tell the story more thoroughly and effectively.

    I hope to hear from you.
    Dr. Drantz
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5 Androgen Insensitivity

  1. 1. What If the Androgen Receptor Doesn’t Work? Estrogen Brain organization Aromatase Adpated from Ganong, William F. REVIEW OF MEDICAL PHYSIOLOGY 22 nd ed. Lange Medical Books/McGraw-Hill (2005)
  2. 2. Androgen Insensitivity Syndrome <ul><li>AIS aka testicular feminization syndrome </li></ul><ul><li>Caused by mutations in the gene for the androgen receptor </li></ul><ul><li>X-linked recessive disorder </li></ul><ul><li>Male (46 XY) karyotype </li></ul><ul><li>Testes (abdominal or inguinal) </li></ul><ul><li>Male internal genitalia undeveloped </li></ul><ul><li>No uterus or other internal female genitalia </li></ul>
  3. 4. Complete AIS (CAIS) <ul><li>Appear female at birth and are reared as girls </li></ul><ul><li>Unless there is known or suspected AIS in the family or inguinal testes are detected, these girls typically go undiagnosed until puberty </li></ul><ul><li>Vagina may be short and blind-ending and may or may not need elongation </li></ul><ul><li>Breast development occurs but pubic and axillary hair development is sparse or absent </li></ul><ul><li>When menses fails to occur a remedy is sought </li></ul>
  4. 5. Complete Androgen Insensitivity Syndrome Luria, Z., Friedman, S., and Rose, M.D. HUMAN SEXUALITY. New York: John Wiley & Sons, 1987. Forbes, C.D. and Jackson, W.F. A COLOUR ATLAS AND TEXT OF CLINICAL MEDICINE. England: Mosby-Wolfe (1993)
  5. 6. Partial Androgen Insensitivity Syndrome (PAIS) <ul><li>Usually noticed at, or soon after, birth </li></ul><ul><li>Depending upon the degree of masculinization of the genitals, the child may be raised as a boy or a girl </li></ul><ul><li>AIS is an inherited condition </li></ul><ul><ul><li>Recessive X-linked single gene syndrome </li></ul></ul><ul><ul><li>Manifests differently in children of the same parents; one child can be raised as a boy, another as a girl </li></ul></ul><ul><li>59% PAIS were assigned as males (United Kingdom study, 16 years or younger) </li></ul><ul><li>Most published cases of clinical-psychiatric involvement seem to be related to subjects who were raised as females </li></ul>
  6. 7. AIS Grading Scheme <ul><li>Grade 1: normal masculinization in utero </li></ul><ul><li>Grade 2: male phenotype with mild defect in masculinization (eg, isolated hypospadias) </li></ul><ul><li>Grade 3: male phenotype with severe defect in masculinization—small penis, perineoscrotal hypospadias, bifid scrotum or cryptorchidism </li></ul><ul><li>Grade 4: severe genital ambiguity— clitoral-like phallus, labioscrotal folds, single perineal orifice </li></ul><ul><li>Grade 5: female phenotype with posterior labial fusion and clitoromegaly </li></ul><ul><li>Grade 6/7 female phenotype (grade 6 if pubic hair present in adulthood, grade 7 if no pubic hair in adulthood) </li></ul>Numbered I through 7 in order of increasing severity (more defective masculinization ) Adapted from Quigley CA, DeBellis A, Marschke KB, El-Awady MK, Wilson EM, French FS. Androgen Receptor Defects: Historical, Clinical, And Molecular Perspectives. ENDOCRINE REV, 1 6:282; (1995) with permission. In: Diamond, Milton and Watson, Linda Ann. Androgen Insensitivity Syndrome And Klinefelter’s Syndrome: Sex And Gender Considerations. CHILD ADOLESC PSYCHIATRIC CLIN N AM 13: 623—640 (2004)
  7. 8. Complete AIS & Gender Identity <ul><li>39 subjects: </li></ul><ul><li>100% lived as women and believed that it was the best decision for them; however, this was not a simple solution for all </li></ul><ul><li>“ Acceptance of assignment does not mean that assignment has been correct. It just means that most are able to adapt and live with the handicap; however, they might have preferred other options” </li></ul>* Indicates to me that androgen receptor is required for “alteration” of human gender identity brain region(s). Diamond, Milton and Watson, Linda Ann. Androgen Insensitivity Syndrome And Klinefelter’s Syndrome: Sex And Gender Considerations. CHILD ADOLESC PSYCHIATRIC CLIN N AM 13: 623—640 (2004) published statements from ALIAS, an AIS newsletter. Agree Disagree “ I don’t think I am any different in feeling than if I were born XX, feel very female.” 82%* 18% “ All my efforts over the years in presenting a female persona have left me completely exhausted. I might just as well have had a mastectomy, cut my hair short and lived as a celibate man. It would actually have been easier I think.” 10% 90% I have to “work at being a woman” 56% (dressing in a feminine way or using cosmetics or hair styles in a way to signal “female” unambiguously, altering selection of clothes; 30% did above much of the time) 44% Considered suicide 62% 38% Attempted suicide 23% 77%
  8. 9. Partial AIS & Gender Identity <ul><li>18 subjects: </li></ul><ul><li>Often ambivalent about assigned gender </li></ul><ul><li>67% believed that the gender in which they were raised was best for them, whereas the others voiced reservations </li></ul><ul><li>“ Gender switch” occurred at mean age of 33, range 18-46) </li></ul>* Now angry about castration, vaginal reconstruction surgery, and somatic feminization by estrogen treatment since puberty **Attempted before switching Diamond, Milton and Watson, Linda Ann. Androgen Insensitivity Syndrome And Klinefelter’s Syndrome: Sex And Gender Considerations. CHILD ADOLESC PSYCHIATRIC CLIN N AM 13: 623—640 (2004) PARTIAL AIS 8 raised as boys 4 live as women 10 raised as girls 2 live as men* Considered suicide 61% **Attempted suicide 17%
  9. 10. Milton Diamond Admonished Germaine Greer for Ignoring Brain/Mind <ul><li>“ A portion of your current book &quot;The Whole Woman&quot; dealing with androgen insensitivity (AIS) has been brought to my attention. While you write with conviction, you unfortunately also write with ignorance…” </li></ul><ul><li>“ While you might readily admit that feminists can differ in their views toward their own femininity or identification with their woman-ness (whatever that might mean) you deny that right to others and see it as some sort of charade. You see it as a weakness that other women accept AIS individuals (and male to female transsexuals) as bone fide women.” </li></ul><ul><li>“ Indeed individuals with AIS are biologically male. That derives from the anatomical consideration of their chromosomes and gonads. Male or female refer to biological sexual characteristics. Gender is a social-psychological-cultural characteristic. Sex and gender might or might not coincide. Yes, for the majority of persons the similarity exists. For intersexuals -- and AIS individuals are intersexed-- their biological variant sexuality disturbs your view of the conventional. Educated to think in binary terms, you are slow to recognize that there are common medical conditions that move human beings away from the typical male and female. AIS is just one such condition. CAH (congenital adrenal hyperplasia), hermaphroditism and many orders of pseudohermaphroditism are other such.” </li></ul><ul><li>“ AIS women are doing the best they can to follow their hearts and head in the face of a natural, although relatively rare, medical condition. It is a pity that you miss the forest for the trees when all you look at is an individual's chromosomes and gonads and ignore the most central part of a person which makes them human, their brain and mind.” </li></ul>