Reproductive - Disorders of Puberty

Question 1

What is the normal age range for entering puberty in girls?

Answer 1

8 - 13 years

Question 2

What is the normal age range for entering puberty in boys?

Answer 2

9 - 14 years

Question 3

Is delayed puberty more common in boys or girls?

Answer 3

Boys

Question 4

Is precocious puberty more common in boys or girls?

Answer 4

Girls

Question 5

Define what is meant by delayed puberty in girls?

Answer 5

The lack of any breast development by the age of 13 years

Question 6

Define what is meant by delayed puberty in boys?

Answer 6

A testicular volume < 4mls by 14 years

Question 7

What is the most common cause of delayed puberty in both sexes?

Answer 7

Constitutional delay

Question 8

Is a pathological cause for delayed puberty more likely in boys or girls?

Answer 8

Girls

Question 9

What are some central causes of delayed puberty, with an intact hypothalamic-pituitary axis?

Answer 9

Constitutional delay, chronic disease, malnutrition

Question 10

What are some central causes of delayed puberty, caused by secondary hypogonadism?

Answer 10

Pituitary disease, GnRH deficiency

Question 11

What are some peripheral causes of delayed puberty?

Answer 11

Turner’s/Klinefelter’s syndrome, bilateral testicular damage

Question 12

What physical sign may be seen in adolescents with constitutional pubertal delay?

Answer 12

Short stature

Question 13

What investigation may be useful to support a diagnosis of constitutional pubertal delay?

Answer 13

Bone age radiograph

Question 14

Why should TFTs be performed in individuals with delayed puberty?

Answer 14

Hypothyroidism can be a cause

Question 15

How can puberty be induced in those with constitutional pubertal delay?

Answer 15

A short course of oestrogen or testosterone

Question 16

Precocious puberty is defined as signs of puberty before what age in girls?

Answer 16

8 years

Question 17

Precocious puberty is defined as signs of puberty before what age in boys?

Answer 17

9 years

Question 18

What are some peripheral (gonadotrophin-independent) causes of precocious puberty?

Answer 18

Ovarian/testicular/adrenal tumours or CAH

Question 19

Is the cause of central precocious puberty more likely to be pathological in boys or girls?

Answer 19

Boys

Question 20

What will a bone radiograph show in children with precocious puberty?

Answer 20

Advanced bone age

Question 21

What imaging investigation is indicated in all boys, and girls aged < 6 years, with precocious puberty?

Answer 21

Pituitary MRI

Question 22

What blood test is a reliable indicator of whether a boy has entered puberty or not?

Answer 22

Early morning testosterone

Question 23

In a child with precocious puberty, very high levels of either testosterone or oestrogen with suppressed gonadotrophin levels suggests what?

Answer 23

Peripheral precocious puberty

Question 24

Which gonadotrophin is the most reliable indicator of whether a child’s gonadotrophins are at pubertal or pre-pubertal levels?

Answer 24

Serum LH

Question 25

If the picture of precocious puberty is unclear, what stimulation test can be used?

Answer 25

GnRH stimulation test

Question 26

In the GnRH stimulation test, what will happen if there is central precocious puberty?

Answer 26

Gonadotrophin levels will rise

Question 27

In the GnRH stimulation test, what will happen if there is peripheral precocious puberty?

Answer 27

No change in gonadotrophin levels

Question 28

What medication can be used to halt puberty in children with idiopathic precocious puberty?

Answer 28

Gonadotrophin agonists

Question 29

What is the main complication of precocious puberty?

Answer 29

Diminished final adult height

Question 30

How is androgen insensitivity syndrome inherited?

Answer 30

X linked

Question 31

Explain the genotype and phenotype of a child with androgen insensitivity syndrome?

Answer 31

Genotypically male but phenotypically female

Question 32

What are the two main features of androgen insensitivity syndrome?

Answer 32

Primary 'amenorrhoea' and bilateral undescended testes

Question 33

How is a diagnosis of androgen insensitivity syndrome made?

Answer 33

Karyotyping

Question 34

How is androgen insensitivity syndrome managed?

Answer 34

Counselling, oestrogen therapy and bilateral orchidectomy