sexual ambiguity Flashcards
first sign of puberty in boys
testicular growth at 12
what indicates onset of puberty in males
testicular volume >4ml
first signe puberty females
breast development (thelarche) at 11.5 years
what age is average menarche
13
normal changes in puberty (3)
gynaecomastia (boys), asymmetrical growth in girls, enlarged thyroid
what is precocious puberty
secondary sexual characterstics before 8 in girls and 9 in males
what are gonadotrophin dependent causes of precocious puberty
(central) // premature activation of HPG axis - raised FSH + LH
what are gonadotrophin independent causes of precocious puberty
(psuedo) // excess sex hormones, low FSH + low FH
what does bilateral testes enlargement in precocious puberty indicate
intracranial legion
what does unilateral testes enlargement in precocious puberty indicate
gonadal tumour
what does small testes in precocious puberty indicate
adrenal
what conditions cause delayed puberty + short
turner, prader willi, noonan
what conditions cause delayed puberty + normal stature
PCOS, androgen insensitivity, kallman, klinefelter
what gene and chromosome causes development of male genitalia
Y chromosome - SRY gene
causes of ambiguous genitalia
CAH, hermaphroditsm
inheritance Androgen insensitivity syndrome
x linked
genotype and phenotype Androgen insensitivity syndrom
46XY (male), but female phenotype
features Androgen insensitivity syndrome
primary amenorrhoea // little or no pubic or armpit hair // undescended testes –> groin swelling // breast development maybe
diagnosis Androgen insensitivity syndrom
buccal smear or chromosome analysis –> 46XY
hormone profile Androgen insensitivity syndrome
post puberty testosterone slight raised
mx Androgen insensitivity syndrome
bilateral orchidectomy, oestrogen therapy
what mutation causes Persistent Mullerian duct syndrome and what genotype is present
AMH gene // 46XY // born with female genitalia, undescended testes, no ovaries or uterus
what is male pseudohermaphroditism + what causes it
male = 46XY (testes but external female or ambiguous genitalia) - usually androgen insensitivity
what is female pseudohermaphroditism + what causes it
46XX - ovaries but male external genetialia (CAH)
what is true hermaphroditism
46XX ir 47XXY (ovarian and testes present)
what inheritence, genotype, and phenotype is 5-α reductase deficiency
46XY // recessive // cant convert testosterone –> DHT // ambiguous genitalia
what type of hypogonadism is klinefelters + what hormone profile
primary hypogonadism // high LH, low testosterone
genotype klinefelters
47XXY
symptoms klinefelters
tell // no secondary characteristics // small testes, infetile // gynaecomastia (breast cancer)
diagnosis klinefelters
karyotype
what type of hypogonadism is kallmans
secondary (hypogonadotrophic hypogonadism) // low LH and low testosterone
symptoms kallmanns
delayed puberty // undescended testes // anosmia // normal or above height
mx kallmans
testosterone +/- gonadotrophin supplements
type 1 FGM
removal of clitoris
type 2 FGM
removal of clitoris and labia minora +/- removal of labia majora
type 3 FGM
narrowing of vaginal orifice
type 4 FGM
burning, cutting, piercing, fire
