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FINALS - OBS, GYNAE, BREAST > sexual ambiguity > Flashcards

sexual ambiguity Flashcards

1
Q

first sign of puberty in boys

A

testicular growth at 12

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2
Q

what indicates onset of puberty in males

A

testicular volume >4ml

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3
Q

first signe puberty females

A

breast development (thelarche) at 11.5 years

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4
Q

what age is average menarche

A

13

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5
Q

normal changes in puberty (3)

A

gynaecomastia (boys), asymmetrical growth in girls, enlarged thyroid

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6
Q

what is precocious puberty

A

secondary sexual characterstics before 8 in girls and 9 in males

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7
Q

what are gonadotrophin dependent causes of precocious puberty

A

(central) // premature activation of HPG axis - raised FSH + LH

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8
Q

what are gonadotrophin independent causes of precocious puberty

A

(psuedo) // excess sex hormones, low FSH + low FH

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9
Q

what does bilateral testes enlargement in precocious puberty indicate

A

intracranial legion

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10
Q

what does unilateral testes enlargement in precocious puberty indicate

A

gonadal tumour

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11
Q

what does small testes in precocious puberty indicate

A

adrenal

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12
Q

what conditions cause delayed puberty + short

A

turner, prader willi, noonan

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13
Q

what conditions cause delayed puberty + normal stature

A

PCOS, androgen insensitivity, kallman, klinefelter

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14
Q

what gene and chromosome causes development of male genitalia

A

Y chromosome - SRY gene

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15
Q

causes of ambiguous genitalia

A

CAH, hermaphroditsm

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16
Q

inheritance Androgen insensitivity syndrome

A

x linked

17
Q

genotype and phenotype Androgen insensitivity syndrom

A

46XY (male), but female phenotype

18
Q

features Androgen insensitivity syndrome

A

primary amenorrhoea // little or no pubic or armpit hair // undescended testes –> groin swelling // breast development maybe

19
Q

diagnosis Androgen insensitivity syndrom

A

buccal smear or chromosome analysis –> 46XY

20
Q

hormone profile Androgen insensitivity syndrome

A

post puberty testosterone slight raised

21
Q

mx Androgen insensitivity syndrome

A

bilateral orchidectomy, oestrogen therapy

22
Q

what mutation causes Persistent Mullerian duct syndrome and what genotype is present

A

AMH gene // 46XY // born with female genitalia, undescended testes, no ovaries or uterus

23
Q

what is male pseudohermaphroditism + what causes it

A

male = 46XY (testes but external female or ambiguous genitalia) - usually androgen insensitivity

24
Q

what is female pseudohermaphroditism + what causes it

A

46XX - ovaries but male external genetialia (CAH)

25
Q

what is true hermaphroditism

A

46XX ir 47XXY (ovarian and testes present)

26
Q

what inheritence, genotype, and phenotype is 5-α reductase deficiency

A

46XY // recessive // cant convert testosterone –> DHT // ambiguous genitalia

27
Q

what type of hypogonadism is klinefelters + what hormone profile

A

primary hypogonadism // high LH, low testosterone

28
Q

genotype klinefelters

A

47XXY

29
Q

symptoms klinefelters

A

tell // no secondary characteristics // small testes, infetile // gynaecomastia (breast cancer)

30
Q

diagnosis klinefelters

A

karyotype

31
Q

what type of hypogonadism is kallmans

A

secondary (hypogonadotrophic hypogonadism) // low LH and low testosterone

32
Q

symptoms kallmanns

A

delayed puberty // undescended testes // anosmia // normal or above height

33
Q

mx kallmans

A

testosterone +/- gonadotrophin supplements

34
Q

type 1 FGM

A

removal of clitoris

35
Q

type 2 FGM

A

removal of clitoris and labia minora +/- removal of labia majora

36
Q

type 3 FGM

A

narrowing of vaginal orifice

37
Q

type 4 FGM

A

burning, cutting, piercing, fire

FINALS - OBS, GYNAE, BREAST (27 decks)

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