sexual ambiguity

Question 1

first sign of puberty in boys

Answer 1

testicular growth at 12

Question 2

what indicates onset of puberty in males

Answer 2

testicular volume >4ml

Question 3

first signe puberty females

Answer 3

breast development (thelarche) at 11.5 years

Question 4

what age is average menarche

Answer 4

13

Question 5

normal changes in puberty (3)

Answer 5

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

Question 6

what is precocious puberty

Answer 6

secondary sexual characterstics before 8 in girls and 9 in males

Question 7

what are gonadotrophin dependent causes of precocious puberty

Answer 7

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

Question 8

what are gonadotrophin independent causes of precocious puberty

Answer 8

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

Question 9

what does bilateral testes enlargement in precocious puberty indicate

Answer 9

intracranial legion

Question 10

what does unilateral testes enlargement in precocious puberty indicate

Answer 10

gonadal tumour

Question 11

what does small testes in precocious puberty indicate

Answer 11

adrenal

Question 12

what conditions cause delayed puberty + short

Answer 12

turner, prader willi, noonan

Question 13

what conditions cause delayed puberty + normal stature

Answer 13

PCOS, androgen insensitivity, kallman, klinefelter

Question 14

what gene and chromosome causes development of male genitalia

Answer 14

Y chromosome - SRY gene

Question 15

causes of ambiguous genitalia

Answer 15

CAH, hermaphroditsm

Question 16

inheritance Androgen insensitivity syndrome

Answer 16

x linked

Question 17

genotype and phenotype Androgen insensitivity syndrom

Answer 17

46XY (male), but female phenotype

Question 18

features Androgen insensitivity syndrome

Answer 18

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

Question 19

diagnosis Androgen insensitivity syndrom

Answer 19

buccal smear or chromosome analysis –> 46XY

Question 20

hormone profile Androgen insensitivity syndrome

Answer 20

post puberty testosterone slight raised

Question 21

mx Androgen insensitivity syndrome

Answer 21

bilateral orchidectomy, oestrogen therapy

Question 22

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

Answer 22

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

Question 23

what is male pseudohermaphroditism + what causes it

Answer 23

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

Question 24

what is female pseudohermaphroditism + what causes it

Answer 24

46XX - ovaries but male external genetialia (CAH)

Question 25

what is true hermaphroditism

Answer 25

46XX ir 47XXY (ovarian and testes present)

Question 26

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

Answer 26

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

Question 27

what type of hypogonadism is klinefelters + what hormone profile

Answer 27

primary hypogonadism // high LH, low testosterone

Question 28

genotype klinefelters

Answer 28

47XXY

Question 29

symptoms klinefelters

Answer 29

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

Question 30

diagnosis klinefelters

Answer 30

karyotype

Question 31

what type of hypogonadism is kallmans

Answer 31

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

Question 32

symptoms kallmanns

Answer 32

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

Question 33

mx kallmans

Answer 33

testosterone +/- gonadotrophin supplements

Question 34

type 1 FGM

Answer 34

removal of clitoris

Question 35

type 2 FGM

Answer 35

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

Question 36

type 3 FGM

Answer 36

narrowing of vaginal orifice

Question 37

type 4 FGM

Answer 37

burning, cutting, piercing, fire