night before exam

Question 1

name 8 causes of delayed puberty

Answer 1

PCOS
turners
noonan
androgen insensitivity 
5 alpha reductase
prader willi syndrome
kallmans
kleinfelters

Question 2

a short child with delayed puberty
webbed neck
low set ears and triangle face
pulmonary valve stenosis
bleeding disorder

Answer 2

noonans syndrome

Question 3

short female with webbed neck
delayed puberty
amenorrhoea
bicuspid arotic valve and coartctation of aorta
horse shoe kidneys

Answer 3

turners syndrome

Question 4

turners syndrome genes?

Answer 4

45, X

1 X chromosome deleted

Question 5

infant with hypotonia and dysmorphic features turns into a short fat kid with learning difficulty, behavioural issues and infertility

Answer 5

prader willi syndrome

chromosome 15 gene deletion

Question 6

female genitalia at birth then when hits puberty has testicular descent/ willy growth and male characteristic development

Answer 6

5 alpha reductase deficiency = genetically male but cant convert testosterone to di hydroxytestosterone so isnt male-ified until puberty when testosterone levels increase

Question 7

born with female genitalia but presents with primary amenorrhoea, with sexual characterisitics present (boob development) however no pubes and bilateral groin swellings

Answer 7

androgen insensitivity syndrome

genetically male but resistant to testosterone so looks like a female
groin swellings are undescended testes

Question 8

a boy presents with delayed puberty and a lack of sense of smell.
had undescended testes as a child

Answer 8

kallmans syndrome =
x linked recessive, failure of GnRH secreting neurons to migrate to hypothalamus causing low LH, low FSH and low testosterone

= hypogonadotrophic hypogonadism

Question 9

a tall male with small testicles experiences delayed puberty with a lack of sexual characteristics. He develops boobs.

Answer 9

kleinfelters syndrome = 47xxy

extra x so extra female = high LH and FSH but low testosterone = infertile

Question 10

Patau syndrome (trisomy 13)

Answer 10

microcephaly 
polydactyly 
small eyes
cleft lip/palate
scalp lesions

Question 11

edwards syndrome (trisomy 18)

Answer 11

rocker bottom feet
microganthia
low set ears
overlapping fingers

Question 12

fragile X syndrome

Answer 12

learning difficulties
macrocephaly
long head
long ears
macroorchadism = big balls

Question 13

pierre robin sequence

Answer 13

cleft lip
cleft palate
micrognathia
posterior displacement of tongue

Question 14

williams syndrome

Answer 14

SHORT
learning difficulty
friendly extrovert personality
supravalvular aortic stenosis

Question 15

median nerve compression

Answer 15

carpal tunnel
sensory loss in thumb n first 2.5 fingers
pain
tinnels test
loss of thumb across palm

Question 16

ulnar nerve compression

Answer 16

loss of sensation over last 1.5 fingers on both sides
can’t splare fingers out
CLAW HAND

Question 17

radial nerve compression

Answer 17

loss of sensation in back of hand/anatomical snuff box
causes wrist drop
weak supination