Growth and Puberty

Question 1

Give 5 determinants of growth.

Answer 1

1. Parental phenotype and genotype.
2. Quality of pregnancy.
3. Nutrition.
4. Psychosocial deprivation.
5. Hormones.

Question 2

When is growth velocity fastest?

Answer 2

In utero and in infancy.

Question 3

What is hypochondroplasia?

Answer 3

A developmental disorder resulting in short limbs.

Question 4

Give 3 causes of inaccurate height/length measurements.

Answer 4

1. Inaccuracy due to faulty technique/equipment.
2. Uncooperative patient.
3. Different observers.
4. Different times of day.

Question 5

Give 10 differentials for short stature.

Answer 5

1. Constitutional delay.
2. Slow maturation.
3. Delayed puberty.
4. Idiopathic.
5. Environmental.
6. Nutrition.
7. Skeletal disease.
8. Physical disease e.g. coeliac, IBD, CHD.
9. Turner’s syndrome.
10. Endocrine pathology.

Question 6

What can cause an increased final height?

Answer 6

1. Androgen/oestrogen deficiency.
2. GH excess.
3. Marfan’s.
4. Klinefelter’s.

Question 7

What are the 4 steps used in the assessment of growth?

Answer 7

1. Initial measurement.
2. Recording - ensure correct documentation.
3. Interpretation.
4. Action.

Question 8

Name the scale that is used to describe physical development based on external sex characteristics.

Answer 8

Tanner scale.

Question 9

Define thelarche.

Answer 9

Breast development.

Question 10

Define adrenarche.

Answer 10

Maturation of the adrenal gland -> androgen production -> body odour and mild acne.

Question 11

Define pubarche.

Answer 11

Growth of pubic hair.

Question 12

What is the first sign of puberty in boys?

Answer 12

First ejaculation and testicular size >4ml.

Question 13

Define delayed puberty.

Answer 13

In boys: the absence of testicular development (or a testicular volume lower than 4 ml) by age 14 years.
In girls: the absence of breast development by the age of 13 years, or primary amenorrhoea with normal breast development by the age of 15

Question 14

What is the likely cause of delayed puberty in boys?

Answer 14

Constitutional delay - runs in the family.

Question 15

What must you rule out as a cause of delayed puberty in girls?

Answer 15

Turner syndrome (45X0).

Question 16

Give 3 potential consequences of delayed puberty.

Answer 16

1. Psychological problems.
2. Reproduction defects.
3. Reduced bone mass.

Question 17

How might you investigate delayed puberty?

Answer 17

FBC, U+E, TFT’s, LH/FSH, karyotyping.

Question 18

Define precocious puberty.

Answer 18

development of secondary sexual characteristics before 8 years in females and 9 years in males

Question 19

What must you rule out as a cause of precocious puberty in boys?

Answer 19

Brain tumour.

Question 20

How would you treat precocious puberty?

Answer 20

GnRH super-agonists can be given to suppress pulsatility of GnRH secretion.

Question 21

What is hypergonadotropic hypogonadism?

Answer 21

Primary gonadal failure e.g. testes/ovarian failure.

Question 22

What is the affect of hypergonadotropic hypogonadism on the following:

a) FSH/LH.
b) Oestrogen/testosterone.

Answer 22

a) High FSH/LH.

b) Low oestrogen/testosterone.

Question 23

Name 2 diseases that are examples of hypergonadotropic hypogonadism.

Answer 23

1. Turner syndrome (45X0).

2. Klinefelter syndrome (47XXY).

Question 24

What is hypogonadotropic hypogonadism?

Answer 24

Secondary gonadal failure e.g. hypopituitary or hypothalamic problem.

Question 25

What is the affect of hypogonadotropic hypogonadism on the following:

a) FSH/LH.
b) Oestrogen/testosterone.

Answer 25

a) Low FSH/LH.

b) High oestrogen/testosterone.

Question 26

Name a disease that is an example of hypogonadotropic hypogonadism.

Answer 26

Kallman syndrome.

Question 27

Give 3 signs of Klinefelter syndrome.

Answer 27

1. often taller than average
2. lack of secondary sexual characteristics
3. small, firm testes
4. infertile
5. gynaecomastia - increased incidence of breast cancer
   elevated gonadotrophin levels but low testosterone

Question 28

Briefly describe the pathophysiology behind Kallman syndrome.

Answer 28

There is a congenital deficiency of GnRH meaning the pituitary isn’t stimulated to release FSH and LH this leads to secondary gonadal failure.

Question 29

What inheritance pattern is seen in Kallman syndrome?

Answer 29

X linked recessive or dominant.

Question 30

75% of people with which syndrome may have anosmia?

Answer 30

Kallman syndrome.

Question 31

Define faltering growth.

Answer 31

The failure to gain adequate weight or achieve adequate growth during infancy and childhood. NICE defines faltering growth as weight that has fallen down 2 centile lines.

Question 32

Give 5 broad causes of poor growth.

Answer 32

1. Inadequate calorie intake.
2. Malabsorption.
3. Inadequate retention.
4. Increased calorie requirements.
5. Inflammatory disease.

Question 33

Causes of faltering growth: give examples of inadequate calorie intake.

Answer 33

1. Impaired suck/swallow.
2. Inadequate availability of food.
3. Psychosocial deprivation.
4. Exclusion diets e.g. veganism
5. Cleft palate.

Question 34

Causes of faltering growth: give examples of malabsorption.

Answer 34

1. Coeliac disease.
2. Pancreatic disease e.g. CF.
3. Liver disease.
4. Enteropathy e.g. infective causes - giardia.
5. Cows milk protein intolerance.

Question 35

Causes of faltering growth: give an example of inadequate retention.

Answer 35

Vomiting e.g. severe GORD, pyloric stenosis.

Question 36

Causes of faltering growth: give example increased calorie requirements.

Answer 36

1. Chronic illness e.g. CHD, CKD, CF.
2. Thyrotoxicosis.
3. Malignancy.

Question 37

Name 3 members of the MDT who would be involved in the management of a child with faltering growth.

Answer 37

1. Health visitor.
2. Dietitian.
3. Community paediatrician.

Question 38

Why is prompt intervention important when managing a child with faltering growth?

Answer 38

Prompt intervention can avoid problems such as cognitive delay, feeding and behavioural problems and low maternal self-esteem.