Lecture 8 Flashcards

Question

What are the psychological and behavioral affects of CAH? (of females) Do these behaviors differ from the norm?

Answer 1

Childhood/Adolescence: Increase in testosterone levels / increased male typical play More aggressive Females less interested in marriage, motherhood, feminine appearance than controls Lower levels of empathy, intimacy Less stereotypical female traits Female sexuality Less heterosexual activity Homosexual fantasies and increased occurrence of homosexuality and bisexuality. CAH-SW > CAH-nSW > control Gender identity is more ambiguous with increased severity

Answer 2

Provide glucocorticoids to reduce excess CRH and ACTH Cortisol, etc… something to activate neg feedback Hydrocortisone: infancy, childhood Dex/Prednisone: adolescents, adults (bedtime dose) Mineralocorticoids for salt-wasting form e.g. fludrocortisone

Answer 3

Trisomic Anomalies: 47 Chromosomes Instead of having the usual XY chromosome, males have an extra X in their cells (only males) **Note: Not every male with XXY chromosome has KS Physical, endocrinologic, reproductive, cognitive, and behavioral disabilities. This affects males over their development.

Answer 4

Between 1 in 500 and 1 in 1000 males 0 female SRY region on Y chromosome means all are male Other variants of Klinefelter syndrome: 1 out of 50,000 males e.g. some are XXXY for example Rare cos the effects of all these are cumulative and many do not survive

Answer 5

XXY syndrome is not clear - Increased risk in mother over 35 - KS is NOT an inherited disorder During meiosis 46 chromosomes divide into 2 cells with 23 chromosomes each In female, each cell gets a X In male, one cell gets the X and the other gets the Y For XXY there is non-disjunction from one parent Contribute an extra X May be mosaic – 2 genotypes in 1 person If this is so the relative concentration of XY vs XXY determines severity

Answer 6

May be mosaic – 2 genotypes in 1 person If this is so the relative concentration of XY vs XXY determines severity

Answer 7

Do not make as much testosterone (hypogonadism) - Incomplete virilisation - Can have normal sex lives, but they make little or no sperm (so often infertile if untreated) - Penis does not reach adult size - Small firm testicles (microorchidism) - Enlarged breasts (gynecomastia) - Less facial and body hair - Less muscular body (underdeveloped muscles) - Pear shaped (long arms and legs, narrow shoulders, broad hips) - Taller (long legs) - Weaker bones

Answer 8

IQ within normal range, but ~15pts lower Verbal IQ < Performance IQ Lower verbal IQ Androgynous or feminine feelings that can develop at an early age Higher proportion consider themselves transgendered In individuals who ID as male and want treatment testosterone can masculinize and may aid in fertility

Answer 9

Has a bad rep but actually the best of the trisomys

Answer 10

XYY discovered in 1961 by Avery Sandberg Incidental finding: man was karyotyped because daughter born with Down syndrome 47, XYY last common sex chromosome abnormalities discovered No consistent differences from general public

Answer 11

The incidence is reported to be ~1 in 1,000 males 80-90% of the time will be 47, XYY 10-20% of the time 46,XY/47, XYY; also known as mosaic. May be diagnosed both prenatally and postnatally

Answer 12

A study by Robinson et al, 1999 28 47,XYY males Error during meiosis, but where? Prime illustration of the most common origin of this syndrome ~85% of cases additional Y chromosome was generated by non-disjunction at paternal meiosis II, after a normal meiosis I

Answer 13

Also affected by XYY: Physical Attributes Height Psychological and Cognitive Intelligence normal, but learning difficulties (verbal) IQ lower than siblings… Behavioral Aggression/Criminality are not above normal but they get caught more Explained by IQ deficit

Answer 14

If stress hormones are given to the fetus, there is a change in stress responses later in life. Greater hormonal stress response Possibly set points in the brain-pit-adrenal axis are edited by prenatal stress and permanently change.

Answer 15

testes determining factor

Answer 16

Verified normal sex differences in behavior include the following: Males are more aggressive than females across cultures and from childhood through adulthood, more so in children. Boys are more active and display more playful aggression. For toys, boys prefer vehicles, weapons, and building toys, whereas girls prefer dolls, kitchen accessories, and cosmetics. As adults in most cultures, women are more interested in parenting than men are. Men are more likely to be left-handed than women, and women are less likely to have exclusive left cerebral language dominance. Whereas there is no sex difference in general intelligence, some differences in specific cognitive measures have been found. Females have slightly better overall verbal ability. Males are slightly better on analogies, whereas females are slightly better in speech production and verbal fluency. From childhood through adulthood, males rotate mental images more accurately and rapidly than do females. Females solve mathematical problems slightly better in childhood, whereas males’ problem-solving ability is slightly better in adulthood. There is no sex difference in comprehension of mathematical concepts at any age. Finally, females show better perceptual speed and accuracy than do males, but the magnitude of the difference has been declining since the 1940s, likely related to evolution of the tests used to measure this performance characteristic

Answer 17

The anabolic events at puberty, in particular the increase ill muscle mass, the growth of the phallus and scrotum, and the voice change, appear to be mediated by testosterone and occur in the aSected males ( 11, 13 ) . Prostate growth, facial hair, temporal recession of the hairline, and acne do not occur and appear to be mediated by dihydro- testosterone (14).

Answer 18

Change from female (raised ) to male Begin liking girls Maybe sex drive is test mediated