disorders of sexual development

Question 1

normal sexual differentiation

Answer 1

genetic/chromosome , gonodal sex and phenotypic

Question 2

turners syndrome

Answer 2

XO female only has 1 X chromosome

shorter than average underdeveloped ovaries

Question 3

klinefelter syndrome

Answer 3

`XXY - occurs in males often have extreme female characteristics

Question 4

1950’s

Answer 4

found the importance of y chromosomes - responsible for male characteristics

Question 5

1990’s

Answer 5

specific region - location of SRY on Y chromosome - encodes testis determining factor

Question 6

we all start off as

Answer 6

female - gonad= XX
female- gonads develop into ovaries = mullerian system
no hormones

Question 7

male gonads develop into

Answer 7

testes . androgens - male sex steroid hormone ef-testosterone begin masculinisation
mullerian system is switched off

Question 8

sex

Answer 8

biological status - differences between males and females - sex chromosomes x and y

Question 9

gender

Answer 9

cultural associated attitudes , feelings, behaviours with biological sex

Question 10

gender identity

Answer 10

ones sense of self as male, female or transgender

Question 11

intersex/DSD

Answer 11

People who are born with any range of biological sex characteristics that may not fit typical notions about male or female bodies

Question 12

intersex - abnormality of variation

Answer 12

of chromosomal, gonodal or anatomical features

Question 13

prevalence

Answer 13

1.7% people born with atypical sexual characteristics

Question 14

what kind of DSDS are there

Answer 14

chromosomal , hormonal and internal

Question 15

chromosomal

Answer 15

XY with masculine body or XY with female seeming body or combinations XXY or XXX

Question 16

hormonal

Answer 16

intersex individuals do not process hormones

Question 17

internal

Answer 17

could possess both testicular and ovarian tissues

Question 18

klinefelter syndrome prevalence

Answer 18

XXY occurs about 1 per 500 male births - most common

Question 19

Klinefelter syndrome appearance

Answer 19

taller, less physically strong and coordinated, language and learning problems , quieter and more shy

Question 20

treatment for Klinefelter syndrome

Answer 20

testosterone replacement therapy helps with physical symptoms

Question 21

Turner syndrome prevalence

Answer 21

X chromosome . no Y chromosome about 1 in 2500 live female births

Question 22

turners syndrome characteristics

Answer 22

ovaries - non functional - sterile- no production of hormones, problems with spatial reasoning and maths, social difficulties - inability to understand others emotions

Question 23

XYY Prevalence

Answer 23

about 1 in 1000 live male births . once thought to create hyper aggressive males with a tendency towards criminal behaviour . but generally normal in appearance

Question 24

XXX prevalence

Answer 24

super female- about 1 in 1000 live female births

Question 25

XXX characteristics

Answer 25

more passive, quiet , less assertive, delayed motor and linguistic skills, decreased intelligence and fertility is normal

Question 26

5- alpha reductase deficiency 5-ARD

Answer 26

auto recessive disorder - both parents must be carriers - an enzyme that converts testosterone into DHT- responsible for male external genitalia

Question 27

CAH

Answer 27

congenital adrenal hyperplasia - missing enzyme that stimulates adrenal glands to release the cortisol hormone- less able to cope with stress

Question 28

female patients with classic CAH have been found to have

Answer 28

more male typical childhood play than unaffected girls | good spatial and maths ability, interested in male characteristics , physically aggressive

Question 29

unusual case of David reimer

Answer 29

born male, had an operation on his penis but went wrong, sex reassigned - turned into a female

Question 30

aims of surgery

Answer 30

restore functional genital anatomy to allow future penetrative intercourse, reduce risk of ganadal cancers , avoids stigmatisation

Question 31

ovotesticular disorder of sex development

Answer 31

parents wanted their children to have early ganadal surgery - no one had gender identity disorder

Question 32

hypospadias

Answer 32

male but incomplete fusion of the urethral folds

Question 33

hypospadias linked to

Answer 33

specific genes, substances that interfere with natural hormones , placental abnormality