puberty and its disorders

Question 1

what is puberty ?

Answer 1

it is the period of transition from sexual immaturity to sexual maturity

Question 2

what are the stages of puberty in order ?

Answer 2

1. breast development ( Thelarche)
2. Accelerated growth
3. appearance of pubic hair (pubarche)
4. Menarche
5. Appearance of axillary hair (Axillarche)
6. regular ovulatory cycles

Question 3

what is the hormone responsible for breast development ?

Answer 3

estrogen effect

Question 4

what hormones are responsible for the accelerated growth phase of puberty ?

Answer 4

growth hormone and oestrogen

Question 5

what is the hormone responsible for the appearance of pubic hair (Pubarche) ?

Answer 5

adrenal androgens effect

Question 6

what is another term used for pubarche ?

Answer 6

adrenarche

Question 7

what is tanner staging used for ?

Answer 7

used to assess adolescents’ physical development during puberty in five stages

Question 8

what does tanner stage 1 indicate ?

Answer 8

prepubertal

Question 9

what does tanner stage 5 indicate ?

Answer 9

adult or mature age

Question 10

what is the definition of delayed puberty ?

Answer 10

no secondary sexual characteristics by the age of 13-14, or no menses by the age of 15-16

Question 11

what are the two main causes of delayed puberty ?

Answer 11

primary hypergonadotrophic hypogonadism

secondary hypogonadotrophic hypogonadism

Question 12

what are the causes of primary hypogonadism ?

Answer 12

Turner syndrome
gonadal dysgenesis or agenesis
premature ovarian failure
autoimmune ovarian failure

Question 13

what are the causes of secondary hypogonadism ?

Answer 13

1. constitutional delay of growth
2. genetic e.g kallman’s syndrome
3. functional: due to stress or malnutrition

Question 14

what is the difference between hypergonadotrophic hypogonadism and hypogonadotrophic hypogonadism ?

Answer 14

1. hypergonadotrophic hypogonadism: sufficient amounts of hormones are being produced but the gonads are unresponsive
2. hypogonadotrophic hypogonadism: not enough sex hormones are being produced due to a problem in the pituitary or the hypothalamus

Question 15

what aspects do we look for when examining a patient with delayed puberty ?

Answer 15

1. secondary sexual characteristics
2. turner syndrome features
3. serial weight and height measured against a growth curve

Question 16

what investigations would you ask for ?

Answer 16

Xray for bone age 
FSH, LH and E2 
genetic analysis ( turner)
olfactory testing ( kallman's syndrome )
pelvic imaging

Question 17

what is the management of delayed puberty ?

Answer 17

treatment of the cause

estrogen therapy to promote the appearance of 2ry sexual characteristics and to induce menses

Question 18

what is precocious puberty ?

Answer 18

appearance of secondary sexual characteristics before 8 years of age with or without onset of menstruation

Question 19

what are the types of precocious puberty ?

Answer 19

central PP
peripheral PP
benign and non progressive pubertal events

Question 20

what is the aetiology behind central PP ?

Answer 20

it is GnRH dependent , due to the premature activation of hypothalamic-pituitary- gonadal axis

Question 21

what is the most common cause of central PP ?

Answer 21

constitutional

Question 22

what is the aetiology behind peripheral PP ?

Answer 22

not GnRH dependent but due to excessive sex hormones

Question 23

what are the types of peripheral PP ?

Answer 23

isosexual precocious puberty

heterosexual precocious puberty

Question 24

what is isosexual precocious puberty ?

Answer 24

secondary sexual characteristics that match with genetic and phenotypic sex

Question 25

what are the causes of isosexual precocious puberty ?

Answer 25

estrogen producing ovarian or adrenal tumors | exogenous intake of oestrogen through foods or drugs

Question 26

what is heterosexual precocious puberty ?

Answer 26

secondary sexual characteristics that do not match up with genetic and phenotypic sex

Question 27

what are the causes of heterosexual precocious puberty ?

Answer 27

androgen producing adrenal and ovarian tumors occult exogenous androgen intake congenital adrenal hyperplasia

Question 28

what is benign and non progressive pubertal events ( or false precocious puberty ) ?

Answer 28

isolated premature : adrenarche or menarche or a combination of them which is usually a benign condition

Question 29

what to look for during the examination of an individual with precocious puberty ?

Answer 29

serial height and weight measured against a growth chart | secondary sexual characteristics

Question 30

what investigations would you carry out for a case of precocious puberty ?

Answer 30

X ray for bone age | FSH LH and E2

Question 31

what is the treatment of precocious puberty ?

Answer 31

aim is to slow down the accelerated growth especially before the closure of epiphyseal plate : long acting GnRH agonist ( histrelin ) otherwise treat the cause ( excise tumor etc ..)

Question 32

what is the presentation of kallman's syndrome

Answer 32

small penis undescended tester loss of smelling sense lack of secondary sexual characteristics

Question 33

what are the features of Turner's syndrome ?

Answer 33

Wide or weblike neck. Low-set ears. Broad chest with widely spaced nipples. High, narrow roof of the mouth (palate)