delayed puberty

Question 1

delayed puberty in boys definition

Answer 1

no testicular enlargement by 14yrs

Question 2

delayed puberty in girls definition

Answer 2

lack of breast development by 13

Question 3

first line investigations in delayed puberty

Answer 3

bone age assessment
- hand + wrist
- evaluate skeletal maturity

serum gonadotrophins
sex steroid levels
TFTs
karotype analysis

Question 4

causes of delayed puberty with short stature

Answer 4

turners
prader willi
noonans

Question 5

causes of delayed puberty with NORMAL stature

Answer 5

PCOS
androgen insensitivity
Kallmans syndrome
Klinefelters syndrome

Question 6

Kallman’s syndrome

Answer 6

delayed puberty secondary to hypOgonadotrophic hypOgonadism
- sex hormone low
- LH, FSH inappropriately normal/low

• X linked recessived

Question 7

Kallman’s syndrome presentation

Answer 7

delayed puberty
hypogonadism, cryptorchidism
anosmia
tall

lack of smell in boy with delayed puberty

Question 8

management of Kallman’s

Answer 8

testosterone supplementation
gonadotrophin supplementation - for sperm production if fertility desired later in life

Question 9

Kallman vs Klinefelter inheritance

Answer 9

Kallmann = X-linked recessive

Klinefelter = 47 XXY (extra X)

Question 10

Klinefelters presentation

Answer 10

taller than average
lack of secondary characteristics
small, firm testes
infertile
gynaecomastia - increase incidence of breast cancer

elevated gonadotrophin levels but LOW testosterone

Question 11

diagnosis of klinefelter

Answer 11

karyotype (chromosomal analysis)