Delayed Puberty

Question 1

Between what ages does puberty normally start in girls?

Answer 1

8-14

Question 2

Between what ages does puberty normally start in boys?

Answer 2

9-15

Question 3

How long does puberty last?

Answer 3

About 4 years

Question 4

How does puberty start in girls?

Answer 4

The development of breast buds, then pubic hair

Question 5

When does menstruation start in girls?

Answer 5

2 years into the start of puberty

Question 6

How does puberty start in boys?

Answer 6

• enlargement of the testicles, then of the penis
• Gradual darkening of the scrotum
• Development of pubic hair
• Deepening of the voice.

Question 7

What is Tanner staging used for?

Answer 7

To determine the pubertal stage based on examination findings of sex characteristics.

Question 8

What is Hypogonadism?

Answer 8

A lack of the sex hormones, oestrogen and testosterone, that normally rise prior to and during puberty.

Question 9

What do a lack of oestrogen and testosterone lead to?

Answer 9

A delay in puberty

Question 10

What can a lack of oestrogen and testosterone be due to?

Answer 10

• Hypogonadotrophic hypogonadism

* Hypergonadotrophic hypogonadism

Question 11

What is Hypogonadotrophic hypogonadism?

Answer 11

A deficiency of LH and FSH

Question 12

What is Hypergonadotrophic hypogonadism?

Answer 12

A lack of response to LH and FSH by the gonads

Question 13

What does a deficiency of LH and FSH lead to?

Answer 13

A deficiency of the sex hormones testosterone and oestrogen.

Question 14

What is a deficiency of FSH and LH the result of?

Answer 14

Abnormal functioning of the hypothalamus or pituitary gland.

Question 15

What can abnormal functioning of the hypothalamus or pituitary gland be due to?

Answer 15

Previous damage to the hypothalamus or pituitary
Growth hormone deficiency
Hypothyroidism
Hyperprolactinaemia (high prolactin)
Chronic conditions can temporarily delay puberty
Excessive exercise or dieting
Kallman syndrome

Question 16

What could have caused previous damage to the hypothalamus or pituitary?

Answer 16

Radiotherapy or surgery for previous cancer

Question 17

Which chronic conditions can cause a temporary delay in the onset of puberty?

Answer 17

Cystic fibrosis

Inflammatory bowel disease

Question 18

What is Kallmann’s syndrome a cause of?

Answer 18

A cause of delayed puberty secondary to hypogonadotropic hypogonadism

Question 19

What type of inheritance does Kallmann’s syndrome have?

Answer 19

X-linked recessive

Question 20

What is the typical presentation of someone with Kallmann’s syndrome?

Answer 20

A boy with delayed puberty and a lack of smell (anosmia)

Question 21

What is Hypergonadotropic hypogonadism?

Answer 21

This is where the gonads fail to respond to stimulation from the gonadotrophins (LH and FSH).

Question 22

Why are there high levels of FSH and LH in someone with Hypergonadotropic Hypogonadism?

Answer 22

The anterior pituitary produces increasing amounts to try harder to stimulate the gonads.

Question 23

What would you find in someone with Hypergonadotropic Hypogonadism?

Answer 23

High gonadotrophins (“hypergonadotrophic”) 
Low sex hormones (“hypogonadism”).

Question 24

What are possible causes of Hypergonadotropic Hypogonadism?

Answer 24

• Previous damage to the gonads
• Congenital absence of the testes or ovaries
• Kleinfelter’s Syndrome (XXY)
• Turner’s Syndrome (XO)

Question 25

What are possible genetic causes of Hypergonadotropic Hypogonadism?

Answer 25

* Kleinfelter’s Syndrome (XXY) | * Turner’s Syndrome (XO)

Question 26

What previous damage to the gonads could result in Hypergonadotropic hypogonadism?

Answer 26

Testicular torsion Cancer Infections-mumps

Question 27

What is the threshold for initiating investigating someone for pubertal delay?

Answer 27

When there is no evidence of pubertal changes in a girl aged 13 or a boy aged 14.

Question 28

What is the first step in investigating someone with pubertal delay?

Answer 28

Take a detailed history of their general health, development, family history, diet and lifestyle.

Question 29

What results would you get from early morning serum FSH and LH (the gonadotropins)?

Answer 29

low in hypogonadotrophic hypogonadism | high in hypergonadotrophic hypogonadism

Question 30

When would you carry out investigations for pubertal delay?

Answer 30

When there is some evidence of puberty but no progression over 2 years.

Question 31

Why might you do an x-ray in someone with pubertal delay?

Answer 31

An x-ray of the wrist to assess bone age and inform a diagnosis of constitutional delay

Question 32

Why might you do a pelvic ultrasound in someone presenting with pubertal delay?

Answer 32

Pelvic ultrasound in girls to assess the ovaries and other pelvic organs

Question 33

Why might you do an MRI in someone presenting with pubertal delay?

Answer 33

To look for pituitary pathology and assess the olfactory bulbs in possible Kallman syndrome

Question 34

What is the management in the majority of cases of pubertal delay?

Answer 34

Reassurance and observation

Question 35

What medical management can be given for pubertal delay?

Answer 35

Replacement sex hormones (oestrogen in girls and testosterone in boys) can be used to induce puberty under expert guidance.