13.4 Three cases of exceptional human sexual development

Question 1

Describe the case of Anne S., the woman who wasn’t

Answer 1

• treatment for 2 sex related disorders - lack of menstruation and pain during sex
• no kids for 4 years, probs bc of the periods
• only apparant peculiarity - sparseness and fines of pubic and axillary hair
• nothing atypical ab external genitals
• vagina was only 4 cm log
• under developed uterus

Question 2

what did Anne S suffer from

Answer 2

androgen insensitivity syndrome

Question 3

what are the three lines of evidence that proved Anne S was a genetic male

Answer 3

1. mouth cells were XY
2. incision in annes abdomen and look inside - testes, not ovaries
3. Hormone tests revealed she had male typical hormones

Question 4

what is androgen insensitivity syndrome

what is its prevelance

Answer 4

mutation to androgen receptor gene that rendered all androgen receptors unresponsive
- 1/100,000 genetic male births

Question 5

How did Anne’s external and behaviour sexual development proceed?

Answer 5

1. external genitals, brain, behaviour dev along female lines since the lack of androgens didn’t override the female program and testes could not descend into scrotum since it didn’t exist

Question 6

How did Anne’s internal and hormonal development proceed (3)

Answer 6

didn’t dev female repro ducts bc her testes released mullerian inhibiting substance (thus the short vagina and underdevelopped uterus)

• at puberty, testes released enough Estrogen to feminize her body in the absence of counteracting T
• Adrenal androstenedione could not stimulate the growth of pubic and axillary hair

Question 7

How similar are those with complete androgen insensitivity syndrome to genetic females?

Answer 7

all aspects of studied behaviour (gender identity, sex orientation, interests, cognitive abilities) are typical of females

Question 8

Explain the case of the little girl who grew into a boy

(2 forms of treatment

Answer 8

Elaine was born with ambiguous external genitals, raised as a girl without problems until puberty

• began to dev male secondary sex characteristics
• treated with
  1. surgery to increase vagina, decrease clitoris
  2. hormone treatment to suppress androgen so estrogen could feminize
• developed into a typical young female with the only oddities being narrow hips and husky voice

Question 9

what did Elaine (girl who grew up to be a boy) suffer from?

- prevalence?

Answer 9

adrenogenital syndnrome, most common atypical form of sex dev (10/10,000)

Question 10

what is adrenogenital syndrome?

Answer 10

caused by congenital adrenal hyperplasia, deficiency in the release of cortisol from the adrenal cortex

• results inn compensatory adrenal hyperactivity, excessive release of adrenal androgens
• lots of healthy problems, effects on sexual development

Question 11

what are the effects adrenogenital syndrome on males and females, respectively?

Answer 11

males - accelerates onset of puberty
females - enlarged clitoris, partially fused labia, typical gonads and internal ducts bc the adrenal androgens are released too late to stimulate wolffian development

Question 12

when are most female cases of adrenogenital syndrome diagnosed?
what are the outcomes n these cases?

Answer 12

birth,

external genitals are altered, more typically female, cortisol is administered to reduce the levels of circulating adrenal androgens
- grow up to be physically typical, menstruation onset is likely later

Question 13

what does the fact that menstruation onset is later in adrennogenital females diagnosed and treated at birth result in experimentally?

Answer 13

good participants for studies on the effects of fetal androgen exposure in psychosexual dev

Question 14

what are the behavioural differences associated with adrenogenital teenage girls treated at birth? (4)

Answer 14

1. more tomboyishness
2. greater strength
3. more aggression
4. prefer boys clothes, toys, play with boys

Question 15

what are the romantic and sexual preference differences associated with female adrenogenital syndrome?

Answer 15

lag behind typical females in dating and marriage

• maybe bc of delayed onset of menstruaton
• may have higher rates of homosexuality, less interest in heterosexual relationships

Question 16

what further complicates the interesting facts about the romantic and sexual preference differences in females with adrenogentical syndrome

Answer 16

they may not be the result of early androgen exposure
- could be due to the presence of ambiguous genitals and male characteristics which can result in different experiential influences

Question 17

when did we find a treatment for adrenogenital syndrome?

what is it?

Answer 17

1950, cortisol therapy

Question 18

what happens if adrenogenital syndrome is left untreated?

Answer 18

adrenal androgens can predominate and masculinize bodies
OR
ovarian estrogens can predominate and feminize

Question 19

Describe the case of Ablatio Penis

Answer 19

• penis cut off by accident
• castrated the boy, raised as a girl, constructed and artificial vagina, estrogen administered at puberty to feminize
• developed along male lines
• got a phalloplasty and mastectomy the he was older
• heterosexual

Question 20

what does the case of ablation penis and the suicide of the individual involved iindicate about surgical sex procedures

Answer 20

wait until early puberty when their gender identity develops