disorders of sexual development Flashcards
normal sexual differentiation
genetic/chromosome , gonodal sex and phenotypic
turners syndrome
XO female only has 1 X chromosome
shorter than average underdeveloped ovaries
klinefelter syndrome
`XXY - occurs in males often have extreme female characteristics
1950’s
found the importance of y chromosomes - responsible for male characteristics
1990’s
specific region - location of SRY on Y chromosome - encodes testis determining factor
we all start off as
female - gonad= XX
female- gonads develop into ovaries = mullerian system
no hormones
male gonads develop into
testes . androgens - male sex steroid hormone ef-testosterone begin masculinisation
mullerian system is switched off
sex
biological status - differences between males and females - sex chromosomes x and y
gender
cultural associated attitudes , feelings, behaviours with biological sex
gender identity
ones sense of self as male, female or transgender
intersex/DSD
People who are born with any range of biological sex characteristics that may not fit typical notions about male or female bodies
intersex - abnormality of variation
of chromosomal, gonodal or anatomical features
prevalence
1.7% people born with atypical sexual characteristics
what kind of DSDS are there
chromosomal , hormonal and internal
chromosomal
XY with masculine body or XY with female seeming body or combinations XXY or XXX
hormonal
intersex individuals do not process hormones
internal
could possess both testicular and ovarian tissues
klinefelter syndrome prevalence
XXY occurs about 1 per 500 male births - most common
Klinefelter syndrome appearance
taller, less physically strong and coordinated, language and learning problems , quieter and more shy
treatment for Klinefelter syndrome
testosterone replacement therapy helps with physical symptoms
Turner syndrome prevalence
X chromosome . no Y chromosome about 1 in 2500 live female births
turners syndrome characteristics
ovaries - non functional - sterile- no production of hormones, problems with spatial reasoning and maths, social difficulties - inability to understand others emotions
XYY Prevalence
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
XXX prevalence
super female- about 1 in 1000 live female births
XXX characteristics
more passive, quiet , less assertive, delayed motor and linguistic skills, decreased intelligence and fertility is normal
5- alpha reductase deficiency 5-ARD
auto recessive disorder - both parents must be carriers - an enzyme that converts testosterone into DHT- responsible for male external genitalia
CAH
congenital adrenal hyperplasia - missing enzyme that stimulates adrenal glands to release the cortisol hormone- less able to cope with stress
female patients with classic CAH have been found to have
more male typical childhood play than unaffected girls
good spatial and maths ability, interested in male characteristics , physically aggressive
unusual case of David reimer
born male, had an operation on his penis but went wrong, sex reassigned - turned into a female
aims of surgery
restore functional genital anatomy to allow future penetrative intercourse, reduce risk of ganadal cancers , avoids stigmatisation
ovotesticular disorder of sex development
parents wanted their children to have early ganadal surgery - no one had gender identity disorder
hypospadias
male but incomplete fusion of the urethral folds
hypospadias linked to
specific genes, substances that interfere with natural hormones , placental abnormality
