GROWTH

1-Theme: Growth

A 12 months
B 15 months
C 18 months
D 2 years
E 2½ years
F 3 years
G 4 years
H 5 years
I 6 years

For each of the following cases, select the most likely developmental age from the
list above.
Each option may be used once, more than once or not at all.

Scenario 1 Hops on one foot, throws ball over arm, goes to toilet alone, draws
square from copy.

4 years Correct answer

Other milestones of a 4-year-old include: standing on one foot well, building steps
with cubes, drawing a man with two to four parts, counting to ten, able to undress,
sharing toys and beginning of social interaction.

A useful mnemonic for remembering the order of copying shapes is CCST: Circle
(3 years), Cross (3½ years), Square (4 years) and Triangle (5 years).

Scenario 2 Rides tricycle, washes hands, knows age and sex, imitates bridge of
three cubes.

3 years Correct answer

Other milestones of a 3-year-old include: briefly balancing on one foot, walking on

tiptoes, building tower of nine cubes, copying circle, knows name, speaking three
to four word sentences, helping with dressing, eating with knife and fork.
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It is easy to remember some of the three-year-old milestones; such as riding a
tricycle and imitating a bridge with 3 cubes.

Scenario 3 Walks up and down stairs one step at a time, jumps with both feet,
scribbles spontaneously, can build tower of more than 4 cubes.

2 years Correct answer

Other milestones of a 2-year-old include: running well, kicking ball, climbing on

furniture, building tower of six cubes, copying vertical line, using plurals, two to
three word sentences, feeding with fork and spoon. Children initially learn to climb
stairs one step at a time around 2- 2½ years. By around 3 they can walk upstairs
one foot per step, but come down with two. Between 4- 5 they learn to descend
with one foot per step.

It is important to remember that whilst the age at which milestones are attained
differs between children, the order of skill development does not. Children with
severe developmental delay acquire milestones in exactly the same order as
everybody else, albeit at a different rate and with a different end-point.

It is vital that you know your developmental milestones. They are important not
only as knowledge for your exams but also in your everyday clinical practice.

2-Short stature in a 16-year child can be due to which of the following?

Thyrotoxicosis
Crohn’s disease
Turner’s syndrome
Isolated growth hormone deficiency
Hypochondroplasia

Any chronic illness will effect growth and this is particularly true of Crohn’s
disease. Girls with Turner’s syndrome are deficient of growth hormone and
there are NICE guidelines supporting the use of growth hormone replacement for
these girls. In hypocondroplasia, children have disproportionately short stature,
micromelia and a head that appears large when compared with the shorter parts of
the trunk and limbs. Short stature is not usually due to thyrotoxicosis. F T T T T

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3-Recognised causes of tall stature in childhood include which of the
following?

Congenital adrenal hyperplasia

Klinefelter syndrome
Homocystinuria
Pseudohypoparathyroidism
Obesity

Tall stature is usually defined as 2 standard deviations above the mean (i.e. above
the 97th percentile). CAH causes tall stature in younger children initially but the
overall final height is reduced. Children with Klinefelter (XXY) syndrome have
normal height velocity initially but by the age of 5 years and older they are taller
than their peers. They have disproportionately long arms and legs. Homocystinuria
is indeed a cause of tall stature. Children with obesity are also initially tall, but
their overall final height may be reduced as a consequence. Patients with
pseudohypoparathyroidism typically are short. T T T F T

4-Delayed bone age is a feature in children who present with which of the
following?

Hypothyroidism
Coeliac disease
Congenital adrenal hyperplasia
Constitutional delay in growth and development
McCune Albright syndrome

Bone age looks at the shape of bones and assesses their skeletal maturity. It is
measured by taking an x-ray of the left hand and wrist and comparing to standard
x-ray findings reported in radiological textbooks. Anything that causes puberty to
be accelerated or delayed will do the same to bone growth. Delayed bone age
means their skeletal maturation is younger than their age in years. Conditions that
cause growth failure will also tend to show delayed bone age.

TTFTF

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5-Delayed appearance of teeth is caused by which of the following?

Dental caries
Excessive use of a dummy
Idiopathic growth hormone deficiency
Hypothyroidism
Cystic fibrosis

Dummies may be related to an increased frequency of oral candidiasis, otitis

media, dental malocclusion and dental caries (if syruped). Delayed appearance of
the teeth may be due to poor nutrition, rickets or with conditions such as
hypopituitarism or hypothyroidism. F F T T T

6-Which of the following may be physiological?

Breast development in a 3-day-old boy

Breast development in an 8-year-old girl
Breast development in a 14-year-old boy
Pubic hair in a 2-year-old girl
Pubic hair and breast development in a 5-year-old girl

Breast development is relatively common at certain times in childhood and can be

considered a normal variant. Neonatal gynaecomastia is probably due to maternal
hormone effects.

An eight-year-old girl might be in the early stages of puberty especially if >50

percentile for weight. Teenage boys frequently develop gynaecomastia or even
simple breast buds which are usually self resolving though can be embarassing and
may require cosmetic surgery.

In a younger girl (2-3 years old) the cause might be idiopathic premature thelarche
which is again usually self resolving. Other sexual characteristics (pubic hair,
penile changes, etc.) ocurring in young children are signs of precocious puberty
and should be investigated and treated accordingly.

TTTFF

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7-Tall stature aged 4 is a feature of which of the following conditions?

Precocious puberty
Marfan’s syndrome
Corticosteroid use
Thyrotoxicosis
XY/XO gonadal dysgenesis

Precocious puberty is likely to cause tall stature in early puberty although the adult
overall final height may end up being relatively short. XY/XO gonadal dysgenesis
andcorticosteroids cause short stature. T T F T F

8-Factors that influence growth are:

Nutritional deprivation during midgestation till 2-3 postnatal years will retard the
growth
Hormonal influence of thyroxine will impair fetal growth
Gonadal steroids, androgen and thyroid hormones influence pubertal phase of
growth
Growth hormone is the main controlling factor in the phase of infant rapid growth
Overgrowth is much more frequently encountered and is responsible for 42% of
all referrals to paediatricians

Phases of human growth are Infancy-Childhood-Puberty.

Infancy component begins from mid-gestation lasting till 2-3 years postnatally.
This phase of rapid growth is related purely to nutrition which emphasises the role
of maternal nutrition in infancy for adequate growth. Nutrition deprivation during
this phase of life can lead to irreversible damage. The growth of an infant is largely
controlled by nutrition.

The childhood component is mainly regulated by hormonal influences such as that

of thyroid and growth hormone which are important for postnatal growth but do
not impair fetal growth and hence a newborn with congenital hypothyroidism or
growth hormone deficiency, does not exhibit any linear growth failure at birth.

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Later growth is endocrine driven, particularly during puberty. Pubertal phase of
growth is superimposed on the decelerating childhood component and is
influenced by gonadal steroids and their enhancing effect on GH-IGF-1 secretion,
thyroid, androgen and other growth promoting hormones (Karl berg et al).

Failure to thrive and poor growth is much more common than overgrowth.

TFTFF

9-Short stature is seen in the following:

Hypochondroplasia
Praderwilli syndrome
Russell silver
Turner syndrome
Klenifelter syndrome

Prader Willi syndrome ... 55-70% have paternally derived deletion of the long arm
of chromosome 15. They have severe hypotonic at birth, hypogonadism, small
hands and feet and short stature.

Turner syndrome - karyotype is 45, XO. Clinical features are short stature,
lymphoedema at birth, dysplatic nails, streak ovaries, normal intelligence, and
renal anomalies with premature osteoporosis.

Klinefelter syndrome – 47XXY. May be due to failure of the chromosomal pair
to separate during meiosis in either parent. It occurs in 1:1000 males; they are tall,
with reduced intellectual in 10-15%, primary hypoganadism, and female body fat
distribution. Patients with Klinefelter’s are chromatin positive (they have Barr
body visible in the nuclei of their cells).

Russell Silver Dwarfism – Sporadic. IUGR. Short stature, normal intelligence,
small triangular shaped face, narrow jaw, thin lips and carp-shaped mouth. Body
asymmetries with hemi hypertrophy which may not be present at birth and become
increasingly apparent with age. Others present with café-au-lait patches,
hypospadias and clinodactyly.

Hypochondroplasia is an autosomal dominant inheritance. 80% occur as a result of

spontaneous mutation. The head is large compared to the body with prominent

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frontal, parietal and occipital bones. Lumbar lordosis and vertebral disc herniation
is common. Spinal stenosis results in root compression that may cause neurological
symptoms in lower limbs resulting in waddling gait. T T T T F

10-A 3-day-old baby was noticed by the mother to develop rhythmic, focal,
myoclonic jerks at a rate of 1-3 per second, followed by generalised fits.

The diagnosis is:

Febrile convulsion
Infantile spasms
Late neonatal hypocalcaemia
Hypoglycaemia
Early neonatal hypocalcaemia

Newborn infants with tetany develop rhythmic, focal, myoclonic jerks at a rate of
1-3/sec, sometimes followed by generalised fits.Early neonatal hypocalcaemia
appears in the first 72 hours after birth. It occurs primarily in infants of who have
experienced complicated pregnancies, or deliveries, or both.

It occurs more commonly in infants of diabetic mothers or mothers with pre-

eclamptic toxaemia.

Late neonatal hypocalcaemia has peak occurrence around 6th day of life, and
historically has been primarily associated with high phosphate concentration in
cow’s milk-based infant feeds. This is now rare with modern formulae and is
more often associated with hypoparathryoidism or maternal disorders of calcium
homeostasis.

Treatment is with intravenous infusion of 10% calcium gluconate giving at

0.2ml/kg slowly under ECG monitoring with 2-4ml/kg/24hrs given as a
maintenance dose. With persistent convulsions, hypomagnesaemia should be
sought and if confirmed, treated with MgSO4 , given as 0.2ml/kg of a 50% solution
given every 4-8hrs.

Febrile convulsions typically occur between the ages of 6 months - 5 yrs with
seizures provoked by fever. In the scenario, the infant is not in this age range and
there is no mention of fever.

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Infantile spasms occur between 3 months - 1yr. Usually the infant has a flexion-
extension spasm.

M > F. The EEG is chaotic and typically shows hypsarrhythmia. 5

11-Growth hormone therapy:

Useful in the treatment of idiopathic short stature

Increase in the final height of 3-4cm compared to untreated children
Increase in final height of 1-2 mm
The therapy has no adverse effects, hence needs no monitoring
Final height after treatment will be 7mm greater than without the treatment

Growth hormone therapy is given to children with growth hormone deficiency,

Turner syndrome, chronic renal insufficiency or Prader-Willi syndrome. There are
specific NICE guidelines for its use.

Controversies still surround it use in short, normal children and children

categorised as having idiopathic short stature, growth hormone is not licensed for
these cases. Studies suggest a modest increase in final height to the extent of 3-
4cm.

Potential adverse effects during therapy need monitoring. 2

12-Normal pubertal changes in girls:

Development of breast buds is known as Thelarche and usually occurs between

ages 8 to 13
Development of breast buds is known as Adrenarche and usually occurs between
age 10-12
Development of pubic hair, limited to labia major called Adrenarche is also named
as Tanner stage 1
The amount of pubic hair increases to an almost adult amount after the onset of the
menses
The development of breast buds is also known as Tanner stage 2

The pubertal hormones send signals the hypothalamus and the pituitary glands.
These in turn, send hormonal signals to the gonads. This system of signalling takes
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a couple of years to become fully established. Stages for the physical changes are
on a scale of 1-5 called Tanner staging.

Children who do not show any physical changes of puberty are at Tanner stage 1.

Adults who have completed puberty are at stage 5.

The first visible changes are development of breast buds known as Thelarche. This
occurs between ages 8-13 yrs and marks the transition to Tanner stage 2.

Following breast development, dark pubic hair appears (Adrenarche), generally

limited to labia major. This is called Tanner stage 2. Some girls (15%) will have
the development of pubic hair before breast. The amount and coarseness of the
pubic hair increases to an almost adult level during Tanner stage 3 prior to the
onset of menses in Tanner stage 4. T F F F T

13-Puberty in girls:

Menstruation can occur anytime from the ages of 7-14 yrs

Most girls have their growth spurt in the year preceding the onset of the
menstruation
Scoliosis is sideways curvature of the spine and always occurs after the
peak height velocity
Most girls stop having bone growth within 4-5 years after the onset of
menses
Once menstruation occurs girls will have a predictable menstrual cycle
in the first 1-2 years

The onset of the menstruation cycle (Menarche) begins about 2 to 2.5 years after
breast development. The menstrual cycle can occur from ages 9 to 15 years; most
girls do not have a regular, predictable menstrual cycle for another year or two.
Most girls have their growth spurt in the year preceding the onset of the menstrual
cycle and will have reached close to their final adult height, unlike the boys who
have their growth spurt later in puberty.

Most girls stop having bone growth within 18-24 month after the onset of menses.
Scoliosis is more common in children between the ages of 9 to 14 during the
growth spurt of puberty. 2

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14-Precocious puberty:

For the majority of girls there is an underlying medical problem such as a

brain tumour, ovarian diseases, thyroid gland problems
In about 5% of boys, precocious puberty is inherited from the father
More than 2% of girls affected by precocious puberty have inherited the
condition from their mother
The onset of puberty is normally triggered by the pituitary gland
In precocious puberty children achieved their full adult height potential

Precocious puberty is the onset of signs of puberty before the ages 7 or 8 in girls
and 9 in boys. This can be physically and emotionally difficult for the children.

Signs are:

 Girls: Breast development, pubic or underarm hair development, rapid

height growth, onset of menstruation, acne, and mature body odour.
 Boys: Enlargement of testicles or penis, pubic or underarm or facial hair
development, rapid height growth, acne, voice deepening, and mature body
odour.

Those children who show some but not all of the early signs of puberty have
what’s known as partial precocious puberty and require evaluation to rule out
true precocious puberty.

The onset of puberty is normally triggered by the hypothalamus. It signals the

pituitary gland to release hormones that stimulate the ovaries or testicles to make
sex hormones. In the majority of girls no underlying medical problem is found. In
boys the condition is less common, and more likely to be associated with an
underlying medical problem.

In 5% of boys, precocious puberty is inherited from their father, less than 1% of

girls affected by precocious puberty have inherited the condition from their
mother. 2

15-Diagnosis of precocious puberty:

Blood and urine should be obtained to detect elevated levels of sex hormones
X-rays of the wrist and hand are needed to show fracture

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 A MRI scan is the initial diagnostic investigation to confirm precocious
puberty
CT brain scans are carried out to rule out pituitary tumour
A CT abdominal scan for an intra abdominal malignancy mass like
neuroblastoma is essential

The physical changes boys and girls go through during puberty are usually evident
to a doctor during an examination. To confirm a diagnosis of precocious puberty,
order blood and urine tests to detect elevated levels of sex hormones. X-rays of a
child’s left wrist and hand can show whether the bones are maturing too
rapidly.

Imaging and scanning tests such as CT scan, MRI and ultrasound studies can help
rule out specific causes of precocious puberty, such as a tumour in the brain, ovary
or testicle. 1

16-Treatment of precocious puberty:

Lowering the high levels of sex hormones with medication will not stop
sexual development from progressing
LHRH analogs’ treatment results are usually seen within 2 months of
starting the treatment
The goal of treatment is to halt or even reverse sexual development and stop
the rapid growth and bone maturation that can eventually result in adult short
stature
Treatment of precocious puberty with LHRH analogs result in a lot of side
effects, hence blood tests need to be monitored to detect early changes of
abnormality
LHRH analogs' mechanism of action is to stimulate the production of sex
hormones that are causing the early puberty

The goal of treating precocious puberty is to halt or even reverse sexual

development and stop the rapid growth and bone maturation that can result in adult
short stature.

Depending on the cause there are two possible approaches to treatment:

1. Treat the underlying cause or disease such as tumour

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 2. Lowering the high levels of sex hormones with medication to stop sexual
development from progressing.

The current approved hormone treatment is LHRH analogs. These are synthetic
hormones that block the body’s production of sex hormones that are causing
the early puberty. Dramatic results are usually seen within a year of starting
treatment with an LHRH analog, which is generally safe and usually causes no side
effects in children. In girls breast size may decrease or there will be no further
development. In boys, penis and testicles may shrink back to the size expected for
their age. Growth in height will also slow down to a rate expected for the children
before puberty. 3

17-Delayed puberty:

Is more common in girls and usually idiopathic

Is rare in boys and usually pathological
Is more common in boys and usually pathological
Is more common in boys and is usually idiopathic
Means no signs of puberty at age 13 years in the boys

Delayed puberty means the appearance of the following after 13 years of age in
girls:

 Breast development, pubic or underarm hair, onset of menstruation, acne,

mature body odour and growth spurt.

And the following after 14 years of age in boys:

 Enlargement of the testicles or penis, pubic, underarm or facial hair, growth

spurt, voice deepening, acne and mature body odour.

Delayed puberty is common in boys and usually idiopathic. In girls it is rare and
usually pathological. 4

18-Theme: Diagnosis

A Turner syndrome
B Prader-willi syndrome
C Noonan syndrome

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D Achondroplasia
E Down syndrome
F Patau syndrome
G William syndrome
H Small for gestational age
I Psychosocial deprivation
J Constitutional delay
K Chronic childhood illness
L Edward syndrome

Match the most appropriate diagnosis to each clinical scenario below. Each option
may be used once, more than once, or not at all.

Scenario 1 : A 6-year-old boy was brought in by his mother to the clinic

because she was worried about his height. On thorough examination he was
found to be short for his age. There were no signs of other organic disease, no
features to suggest hypopituitarism, hypogonadism or space occupying lesion.

Constitutional delay Correct answer

Constitutional delay in growth and puberty occurs more often in boys. They have
slow growth in the preceding 2-3 years before puberty, no other organic disease,
and there will be no features to suggest hypopitutarism, hypogonadism and space
occupying lesion. There will be delayed bone age and short stature.

Scenario 2 : A baby boy born without any complication, was noticed by the
mother to have feeding problems, he gets tired easily during feeding. On
examination by a paediatrician, he was found to have ejection systolic
murmur at the left 3rd and 4th intercostal space. The eyes are rounded with
downwards slope to the eye socket on the outer edge.

The gap between the eyes are wider and flattened, the neck short with extra folds
of skin.

Noonan syndrome Correct answer

Noonan syndrome patients present with ejection on left sternum at the 3rd or 4th
intercostals space radiating to the back.

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Scenario 3 : A 5-year-old girl with short stature, wide spaced nipples,
dysplastic nails and normal intelligence. An ejection systolic murmur is heard
at the right sternum in the 2nd intercostal space.

Turner syndrome Correct answer

Turner syndrome is karyotype 45,XO. Patients will have coarctation of the aorta,
ejection systolic murmur on the right sternum at the 2nd intercostals space. Other
features are lymph oedema at birth, dysplastic nails, short stature, ovarian
dysgenesis, normal intelligence, renal anomalies with premature osteoporosis.

Scenario 4 : You see a baby with severe hypotonia, small hands and feet. He
had previous feeding difficulties but developed overeating in second year with
obesity.

Prader-willi syndrome Correct answer

Prader willi syndrome patients have severe hypotonia at birth, with feeding
difficulty and failure to thrive. Overeating begins in the second year, with
subsequent obesity. Others signs are hypogonadism and small hands and feet. Mild
to moderate retardation. 55-70% have a small paternally derived deletion of the
long arm of chromosome 15.

Scenario 5 : You see a baby whose weight at birth was 2.5kg. He is feeding
well, with his weight and height on the growth chart falling to the third
centile.

Small for gestational age Correct answer

Small for dates (gestational age) means that the height of the fetus is less than the
tenth centile for its gestation. However, most foetuses are simply constitutionally
small and the catch up in weight and height at age 4-5 years.

19-Theme: Diagnosis

A Psychosocial deprivation and neglect

B Anorexia nervosa
C Acquired hypothyroidism
D Growth hormone deficiency

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E Chronic asthma
F Panhypopituitarism
G Glucocorticoid
H Achondroplasia
I Obsessive compulsive disorder
J Dyschondro-osteosis
K Down syndrome
L Prader-willi syndrome

For each of the scenarios below select the most appropriate diagnosis. Each
option may be used once, more than once, or not at all.

Scenario 1 : A 2 ½-year-old boy is referred to the clinic with poor growth.

Their birth weight was 2280g at term and he had progressed poorly physically
and developmentally, but was said to have a good appetite.

He was withdrawn and miserable; playing with his hand and rocking. He was
undernourished with scratched dry skin, and developmentally was markedly
retarded.

Investigations revealed absence of growth hormone response to adequate insulin

hypoglycaemia. He was placed away from his home. The growth chart shows a
dramatic changed in weight, height on each occasion that he was away from home.

Psychosocial deprivation and neglect Correct answer

Psychosocial deprivation and neglect is emotional, physical and mental illness to

the child. They are undernourished. This is known to cause reduced secretion of
growth hormone and eventually retard growth.

Scenario 2 : A 7 year old girl, whose birth weight was 3860g presents to your
clinic. From the age of 18 months her growth had fallen off - her height much
more than weight - and she became obese. At the age of 3 she developed
asthma and required regular inhaled steroid treatment. Her development and
health otherwise were good. A bone age at the age of 6 years corresponded
radiologically to 2 ½ years.

Investigations show normal thyroid function but an almost total failure of response
of growth hormone to stimulation.

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Growth hormone deficiency Correct answer

Growth hormone deficiency produces a delay in bone age, consequently the

children are short. A deviation from the normal growth rate occurs after the age of
about 6 months. It also produces hypoglycaemia early in life. Hypothyroidism also
produces delay in bone age but the level is normal in this child.

Provocation tests are required to confirm GH deficiency. Example is insulin stress

test. Insulin is injected into the child and growth hormone measured at 15, 30, 45,
60 and 120 min,with hypoglycaemic symptom and signs occurring at 15-30 min.
There should be a reduction in basal glucose value by more than 50% or <
2.2mmol/l. If peak GH levels are less than < 7mU/l then this suggests GH
deficiency and levels in excess of 15mU/l exclude the diagnosis.

Scenario 3 : A 15-year-old girl, who was growing normally, lost 14kg of weight
over a year and this called for concern. She denied any problems and
maintained she was healthy and happy at school and fully active physically.

It became known that she was not eating adequately, was very dependent on her
mother, and was fearful of growing up.

Psychiatric assessment revealed that she was a girl with a rather obsessional
personality. She responded well to psychiatric counselling.

Anorexia nervosa Correct answer

Anorexia nervosa is a disturbed sense of body image with a morbid fear of obesity
and relentless pursuit of low body weight. Physically there is a body weight more
than 25% below the standard weight and there is often amenorrhea.

It is about 10 times more common in females, with average age of onset during
adolescence, male mean age 12 years, female 16 years.

Other features are constipation, postural hypotension, bradycardia, hypothermia,

hypoglycaemia, alopecia, cardiac arrhythmia, dental erosion and knuckle calluses
(Russell sign) and tooth decay (as a result of self induced vomiting).

Hormonal changes: decrease in FSH, LSH, testosterone, oestrodiol, T3, and T4;
increase in prolactin, GH and cortisol.

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Scenario 4 : You see in clinic an 11 year old boy whose birth weight was 3500g
at term. He was born to parents of above average stature. It was at 18 months
of age that his parents noticed he was short and overweight. His limbs were
markedly short compared to his normal sized trunk and head. Otherwise his
general health, development and intellect were normal.

Achondroplasia Correct answer

Achondroplasia displays autosomal dominant inheritance. 80% as spontaneous

mutation. Endochondral bone formation is abnormal. There is a large head when
compared to the rest of the body. There are prominent frontal, parietal, and
occipital bones. The trunk is normal but the limbs abnormally short. They have
small foramen magnum: the resulting basilar compression may result in
hydrocephalus.

Lumbar lordosis, vertebral disc herniation is common. Spinal stenosis results in

root compression which may cause neurological symptoms in the lower limbs
resulting in waddling gait and pelvic tilt.

Scenario 5 : A 4 year old boy who attends with his mother presents with a
history of cough and recurrent chest infection. He is on treatment with
digoxin and diuretics. Endocrine function throughout has been normal and
bone age appropriate for chronological age.

On examination he is of short stature, his ears are small with an over folding helix
and his nasal bridge is flat. The tongue appears large and may protrude because the
mouth is relatively small. The outer canthus is higher than the inner canthus. The
hands are short and broad; the 5th finger is short and incurved.

Down syndrome Correct answer

Down syndrome (Trisomy 21). Incidence 1:800 live births, increases with maternal
age.

Clinical features: short stature, intellectual (IQ < 50) and developmental delay.
Brachycephaly, central hypotoniac in 80%.

Eye: upward slanting palpebral fissures, brushfield, epicanthic folds, and cataracts.

Ear: small ear, hearing defeat, frequent middle ear infection.

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Mouth: downward turned mouth, protruding tongue. Congenital hypothyroidism
occurs in 1:300 and autoimmune type presenting later in childhood.

Cardiac: Atrioventricular septa defeat occurs in 40%.

Bowel: trachea-oesophageal atresia, duodenal atresia (10%) double bubble x-ray

appearance. Annular pancreas which can result in obstruction, hirschprung disease
in 3%

Hand: short and broad hands and fingers. Single palmer crease, clinodactyly.

Feet: short and broad feet and toes, increase space between the first and second toe
(sandle toe)

Skin: cutis marmorata, loosely adherent skin.

There is increased risk of leukaemia and Alzheimer disease linked to chromosome

21.

20-Theme: Diagnosis

A Vitamin K deficiency
B Factor V deficiency
C Hypothyroidism
D Genetic short stature
E Growth failure due to inhaled steroid
F Growth hormone deficiency
G Marfan syndrome
H Di-George syndrome
I Zinc deficiency
J Psychosocial deprivation

Match each scenario to the most appropriate diagnosis. Each option may be used
once, more than once, or not at all.

Scenario 1 : A 2-month-old preterm baby feeds on breast milk only. The child
develops blisters at the angle of the mouth, has discharging eyes, a bright
reddish, non-scaly macular rash and patches on the face mostly around the
mouth. Serum zinc is 5 micromol/L.

Zinc deficiency Correct answer

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Zinc, atomic number 30, is essential in structure and function of bio membranes.
Zinc deficiency may cause oxidation damage to membrane. Zinc absorption takes
place in the small intestine. 60-80% is absorbed.

Zinc deficiency is common in premature infants, the concentration of zinc in the

foetal liver from 20-40 weeks gestation ranges from 100-300 microgram/g.
Requirement for growth on average is 250 microgram/kg/day. Also deficiency is
noticed in preterm infants breast-fed by mothers whose mammary glands have a
defective ability to secrete normal quantities of zinc into their milk.

Clinical features: decreased growth, stomatitis, glossitis. Bright reddish, on-scaly

maculaes and patches acro-orificial distribution. (Acrodermatitis enteropathica).
Exematoid, psoriasifrom, vesiculo-bullous and pustular lesions may be present.

Scenario 2 : A 3 day old baby is born at 30 weeks of gestational age. The

mother suffers from controlled epilepsy and is on phenytoin. The baby
develops nasal bleeding. The PTT and PT are prolonged.

Vitamin K deficiency Correct answer

Haemorrhagic disease of the new born is vitamin K dependent. Commoner in

preterm babies who have decrease in factors ii, vii, ix and x. These are
manufactured from the liver and are vitamin K dependent.

A normal decrease of the factors in all newborn babies is seen from 48-72 hours
and a return to birth levels occurs by 7-10 days.

Breast milk is a poor source of vitamin K and haemorrhagic complications have

appeared more in breast-fed than formula-fed infants. Presentations are GI
bleeding, epistaxsis and intracranial bleed. Administration of vitamin K 1mg i.m at
birth prevents bleeding.

Scenario 3 : An 8 year old boy’s weight is above the 99th centile and his
height is below the 3rd centile for his age. He has no history of chronic illness
and asthma. There is growth failure despite weight gain and obesity. T3 and
T4 are low.

Hypothyroidism Correct answer

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Juvenile hypothyroidism. The most common cause of acquired hypothyroidism is
lymphocyte thyroiditis. Some patients with congenital thyroid dysgenesis, or with
incomplete genetic defects in thyroid hormone synthesis, may not develop clinical
manifestation until childhood and therefore appear to have acquired
hypothyroidism. Most patients with these conditions are now detected in the
newborn screening program.

Other causes: Subtotal thyroidectomy for thyrotoxicosis or cancer may result in

hypothyroidism.

Irradiation to the area of the thyroid occurs incidentally during the treatment of
Hodgkin disease or malignancies.

Clinical manifestations: Retarded growth, myxedematous changes of the skin,

constipation, cold intolerance, decrease energy, weight gain and delayed bone age.

Some children present with headache, visual problems, precocious puberty or

galactorrhoea.

All these changes return to normal with adequate treatment with thyroxine but in
children with longstanding hypothyroidism, catch-up growth may be incomplete.

Scenario 4 : A 9 year old boy eating well and is healthy but his height is below
the target range for his age. Both his parents are short, and family history
shows that this is normal in their family.

Genetic short stature Correct answer

Scenario 5 : A 7 year old known asthmatic with frequent attacks is on regular

inhaled beclomethasone and salbutamol. His current growth is on the chart at
below 3rd centile. No other chronic illness is noted.

Growth failure due to inhaled steroid Correct answer

Steroid treatment in children can arrest growth and is seen in cases of asthmatic
patients who are on high doses of inhaled steroid.

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21-Theme: Essential nutrients

A Calcium

B Folic acid

C Iron

D Vitamin A

E Vitamin B6

F Vitamin B12

G Vitamin C

H Vitamin D

I Vitamin E

J Zinc

For each of the cases below please choose the nutritional element most likely to be
deficient from the above list. Each item may be used once, more than once or not
at all.

Scenario 1 : A 6-year-old boy with cystic fibrosis is thought to have poor

compliance with his medicines. He is failing to thrive and has mild ataxia and
weakness.

Vitamin E Correct answer

Ataxia and weakness are signs of vitamin E deficiency. Vitamin E is routinely

supplemented in children with cystic fibrosis. This is because vitamin E is fat
soluble (along with A, D and K) and may be malabsorbed due to exocrine
pancreatic deficiency.

Scenario 2 : A 4-year-olds parents are strict vegans. He is given iron

supplements but is noted to be pale. His Hb is 9.2.

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Vitamin B12 Correct answer

Folic deficiency is unlikely in a vegan diet as green vegetables and legumes are
good sources. Vitamin B12, however, is mainly obtained from dairy products and
meat products and deficiency results in megaloblastic anaemia. Treatment with
B12 supplements stimulates a good bone marrow response.

Scenario 3 : A 2-year-old child is still exclusively breast fed and has not yet
started walking. He has prominent wrists and lumps round his sternum.

Vitamin D Correct answer

Vitamin D deficiency leads to reduced Ca2+ uptake from the gut. Ca2+ is resorbed
(stimulated by PTH) from the bone to maintain serum levels. Alkaline phosphatase
levels may be increased reflecting osteoblastic activity. Clinically this leads to
rickets. There may be prominent wrists (due to the ‘cupped, splayed, frayed’
appearance of the radial and ulna metaphyses (and those of the other long bones)).
A ‘rachitic rosary’ may be present due to swelling of the costochondral
junctions. Treatment is with vitamin D supplementation.

22-Theme: Diagnosis

A Congenital heart disease

B Intrauterine growth retardation
C Small for gestational age
D Cystic fibrosis
E Gilbert syndrome
F Insulin dependent DM
G Marfan syndrome
H Pneumonia
I Klinefelter syndrome
J Excessive growth hormone secretion
K Global developmental delay

For each scenario select the most likely option. Each option may be used once,
more than once, or not at all.

Scenario 1 : An 8-month-old baby girl has feeding problems. She cannot

breastfeed for long, and her mother reports that the baby is often breathless

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and seems to tire easily. She gets exhausted before she achieves her full
volume of required milk. Her weight is 6kg.

Congenital heart disease Correct answer

Children with severe uncorrected congenital heart disease are frequently small.
Usually their poor growth and thinness is apparent from the first year of life and
may continue throughout childhood.

Poor growth was particularly associated with persistent congestive heart failure
and pulmonary hypertension, double outlet right ventricle, tetralogy of fallot and
pulmonary atresia.

Patent ductus arteriosis used to be associated with severe failure to thrive in the
first year of life but now corrective surgery is safe even in low birth weight infants.
Children with persistent left ventricular failure and those with cyanosis are
breathless and tired easily, becoming exhausted before they achieve adequate milk
requirement.

Scenario 2 : A 2 ½ year old girl is brought to the clinic by her mum. She is
unable to walk, cannot speak, her cry is low pitched and she is still bottle fed
by mum. Her hearing test is abnormal. Her height is 70 cm and her weight is 8
kg. On examination she has microcephaly but no other signs. Other siblings
are normal.

Global developmental delay Correct answer

A child with global developmental delay will have delays in all area of
development. This will affect speech and language, fine and gross motor skills,
social skills and weight and height.

Causes include: Prematurity, cerebral malformation, chromosome disorders,

infection, progressive encephalopathy (Metabolic disease, hypothyroidism,
neurocutaneous syndromes like neurofibromatosis, tuberous sclerosis).

Signs of motor delay are a child not able to bring his hands together by 4 months,
not rolling over by 6 months, not crawling by 12 months and not walking by 15
months.

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Speech delay: 5-6 months most infants can say mama, dada. 10-20 months the
child should be able to say 4-6 words and have a 50 word vocabulary at 16-24
months.

Scenario 3 : A 6-month-old baby boy, delivered at 35 weeks of pregnancy. He

was born by a normal delivery and has been feeding well. His weight is 6kg,
and his height is below 10th centile.

Small for gestational age Correct answer

Small for gestational age are children in whom no pathological environment or

genetic conditions restricting foetal growth can be determined. Postnatal catch up
growth is frequently observed.

Intrauterine growth retardation is observed in mother with hypertension in

pregnancy or malnutrition, or with decrease uteroplacental blood flow. The growth
is asymmetrical; the head is not growing in proportion to the body.

Scenario 4 : A 10 year old boy, newly diagnosed with diabetes, has a past
history of frequent admissions with respiratory tract infections. Since birth,
his weight and height have been between the 3rd and 10th centiles.

Cystic fibrosis Correct answer

Cystic fibrosis defect is on long arm of chromosome 7, with most likely

manifestation the f508 mutation. Patients mostly have severe lung infection,
malabsorption caused by pancreatic enzyme deficiency and failure to thrive in
early childhood due to very mild pulmonary involvement.

The growth, puberty development and final height of individual with cystic fibrosis
have assumed greater importance. Failure to maintain body weight is a predictor of
mortality risk for cystic fibrosis.

Growth delay was associated with increasingly severe respiratory disease, weight
more affected than height.

Scenario 5 : A 15 year old has had long legs since childhood. Thorough
examination shows gynaecomastia, small testes, azospermia and karyotype
47XXY.

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Klinefelter syndrome Correct answer

The incidence of Klinefelter syndrome (47XXY) is 1:500 to 1000 live births. There
is tall stature for the family with disproportionately long legs from childhood,
small testes, and azospermia.

There is marked gynaecomastia, hypogonadism or infertility. The long legs relate

to testosterone secretion being inadequate for epiphysial closure at appropriate
time. Pubertal onset is generally not delayed. Mean IQ is normal.

23-Which of the following cause short stature?

Inflammatory bowel disease

Hyperthryoidism
Spinal irradiation
Cushing syndrome
Psychosocial deprivation

Chronic disorders can cause short stature. Hyperthyroidism can cause a transient
increase in stature. Spinal irradiation affects growth by limiting the amount of
spinal growth possible, and also has an effect on the gonads and therefore the
pubertal growth spurt. Cushing syndrome and psychosocial deprivation are well
recognised causes of short stature. T F T T T

24-Theme: Infant milk formulae

A Breast milk

B Elemental formula

C ‘Follow on’ milk

D Goats’ milk

E High-energy formula

F Hydrolysed protein formula

G Pre-term infant formula

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H Term infant formula

I Soya infant formula

J Soya milk

For each of the following cases, choose the most appropriate milk from the above
list. Each item may be used once, more than once or not at all.

Scenario 1 : A 7-month-old infant who has chronic lung disease of

prematurity and is on home O2 and is failing to thrive on term infant formula.

High-energy formula Correct answer

The chronic lung disease means that the infant uses more calories to breathe and
therefore has a higher than normal daily calorie requirement. A higher calorie
formula is needed and a high-energy formula would be most appropriate. Pre-term
formulae are more calorific but unsuitable for infants of this age.

Scenario 2 : A newborn baby whose mother has hepatitis C.

Breast milk Correct answer

In the UK, maternal HIV, current cytotoxic therapy or galactosaemia in the infant
are the only medical reasons not to breast-feed.

Scenario 3 : A 2-month-old baby who suffers from gastro-oesophageal reflux,

is failing to thrive and has a sibling who ‘can’t have dairy’.

Hydrolysed protein formula Correct answer

The clinical scenario fits with a cow’s milk protein intolerance. Gastro-
oesophageal reflux is associated with cow’s milk protein intolerance as a result
of eosinophil infiltration in the oesophagus. Soya formulae are not recommended
for infants under 6 months as they contain phyto-oestrogens.

25-Causes of tall stature include:

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Constitutional
Homocystinuria
Hyperthyroidism
Pseudohypoparathyroidism
Cushing syndrome

Homocystinuria is a metabolic disorder associated with tall stature. Endocrine

disorders resulting in tall stature include hyperthyroidism, precocious puberty and
growth hormone excess (pituitary gigantism). Endocrine disorders resulting in
short stature include pseudohypoparathyroidism, growth hormone deficiency,
hypopituitarism, hypothyroidism and Cushing syndrome. T T T F F

26-The Dubowitz system for assessment of gestational age include the

following external criteria:

Nipple formation
Ear firmness
Nail development
Presence of eyelashes
Breast size

The Dubowitz system is a system for estimating the gestational age of neonates
from 26 to 44 weeks. It includes various neurological criteria (e.g. posture, head
lag) and physical (or external) criteria, which include: presence of oedema; skin
texture; skin colour (not crying); skin opacity (trunk); lanugo (over back); plantar
creases; nipple formation; breast size; ear form and firmness; and development of
genitalia (i.e. presence of testes in scrotum). T T F F T

27-Which of the following is the first sign of puberty in girls?

Menarche
Breast development
Growth spurt
Axillary hair development
Pubic hair development

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Breast development is the first sign of puberty in girls (from 8 years). Menarche
occurs approximately 2 years later (at Tanner stage 4). Peak height velocity will
usually coincide with menarche. There is a wide range in the times of onset of the
stages. 2

28-With regard to growth charts:

Infants aged 0–1 year should have at least three recordings of height and weight
All children below the 2nd centile for height should be reviewed by the GP
All children below the 1st centile for height should be referred for a specialist
opinion
Normal growth velocity of children over 2 years of age is 10 cm/year
Children with a growth velocity less than the 25th or greater than the 75th centile
should be referred for a specialist opinion

Between 0 and 1 year of age an infant should ideally have at least five recordings
of weight and probably one or two recordings of length; between 1 and 2 years of
age they should have at least three recordings and children aged over 2 years
should be recorded annually. Measurements should be plotted on (new 9th) centile
charts as part of a screen for growth failure. All children below the 2nd centile
should be reviewed by the GP, especially if the child has tall parents. The GP
should also review all children crossing a centile, even if still within normal limits
or if there is parental concern. All children below the 0.4th centile should be
referred for a specialist opinion. Normal growth velocity of children over 2 years is
5 cm/year and is calculated by the formula: [increase in height in cm ×
12]/[Number of months] = cm/year. F T F F F

29-Which of the following is the first sign of puberty in boys?

Growth spurt
Pubic hair development
Deepening of the voice
Increase in testicular volume
Your answer
Axillary hair development

Increase in testicular volume is the first sign of puberty in boys (from 10 years).
Voice change occurs at around 14 years. Peak height velocity is when testicular
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volume reaches 10 mL (pubic hair stage 4). There is a wide range in times of onset
of the stages in individuals. 4

30-A 13-year-old boy develops gynaecomastia and comes to you because he is

concerned. He reveals that he is being bullied at school as a result. What is the
most appropriate course of action?

Referral to a paediatric surgeon for consideration of surgical reduction of the

breast tissue
Arrange for assessment of the hypothalamic–pituitary axis
Reassure him that this is physiological and a normal part of puberty
Reassure him and arrange for clinical psychology support
Reassure him and contact the school (with his consent) about the bullying

Gynaecomastia is not uncommon in puberty in boys and resolves spontaneously.

Bullying is not acceptable and schools have very good anti-bullying policies.
Surgical reduction is a last resort in gynaecomastia that doesn’t resolve.
Psychological support may be useful but will not stop the bullying itself. 5

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