disorders of sexual development Flashcards

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1
Q

normal sexual differentiation

A

genetic/chromosome , gonodal sex and phenotypic

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2
Q

turners syndrome

A

XO female only has 1 X chromosome

shorter than average underdeveloped ovaries

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3
Q

klinefelter syndrome

A

`XXY - occurs in males often have extreme female characteristics

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4
Q

1950’s

A

found the importance of y chromosomes - responsible for male characteristics

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5
Q

1990’s

A

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

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6
Q

we all start off as

A

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

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7
Q

male gonads develop into

A

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

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8
Q

sex

A

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

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9
Q

gender

A

cultural associated attitudes , feelings, behaviours with biological sex

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10
Q

gender identity

A

ones sense of self as male, female or transgender

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11
Q

intersex/DSD

A

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

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12
Q

intersex - abnormality of variation

A

of chromosomal, gonodal or anatomical features

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13
Q

prevalence

A

1.7% people born with atypical sexual characteristics

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14
Q

what kind of DSDS are there

A

chromosomal , hormonal and internal

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15
Q

chromosomal

A

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

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16
Q

hormonal

A

intersex individuals do not process hormones

17
Q

internal

A

could possess both testicular and ovarian tissues

18
Q

klinefelter syndrome prevalence

A

XXY occurs about 1 per 500 male births - most common

19
Q

Klinefelter syndrome appearance

A

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

20
Q

treatment for Klinefelter syndrome

A

testosterone replacement therapy helps with physical symptoms

21
Q

Turner syndrome prevalence

A

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

22
Q

turners syndrome characteristics

A

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

23
Q

XYY Prevalence

A

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

24
Q

XXX prevalence

A

super female- about 1 in 1000 live female births

25
Q

XXX characteristics

A

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

26
Q

5- alpha reductase deficiency 5-ARD

A

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

27
Q

CAH

A

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

28
Q

female patients with classic CAH have been found to have

A

more male typical childhood play than unaffected girls

good spatial and maths ability, interested in male characteristics , physically aggressive

29
Q

unusual case of David reimer

A

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

30
Q

aims of surgery

A

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

31
Q

ovotesticular disorder of sex development

A

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

32
Q

hypospadias

A

male but incomplete fusion of the urethral folds

33
Q

hypospadias linked to

A

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