Approach to short stature

ByMohammed Ayad

PAEDIATRIC SPR

topics1 -Definition.

2 -Measurements.3 -Causes.

4 -Algorithm.5 -History.

6 -Examination.7 -Investigations.

8-Common disorders.9 -Management.

10 -Summary.

1 -Definition.Short stature is a common problem and should be early detected and managed.

About 2% of all children, or more than 1 million children in the US, present with short stature.

Boys who are short are more likely to come to medical attention than girls who are short.

Who is short child?1-Short stature is defined as height that is two standard

deviations below the mean height for age and sex (less than the third percentile).

Or2-more than two standard deviations below the mid-parental

height.Or

3-A growth velocity disorder is defined as an abnormally slow growth rate, which may manifest as height deceleration

across two major percentile lines on the growth chart .

so, we can not say that this child is short except after taking regular measurement as a single measurement is usually misleading, except if the child is far below the 3rd centile and the mid-parental height is well at the mean level.

Regular and accurate measurements are extremely important.

2-measurements

one study found that 38% of boys and 20% of girls who were referred were of normal height, the referral being due to errors in measurement, errors in plotting on the growth chart, or failure to account for the child's genetic height potential.

1-How to measure height

It differs according to age-;Up to 2 years…….. Supine position.

……After 2 years…… standing position.

2-How to plot on growth charts?It is vital to know some facts regarding growth charts.

1 -each country should have its own charts.2 -there are multiple types of growth charts, so

before plotting on the chart you should be sure that you are using the right one.

You should check*age.*sex .

3 -there are special types of charts for example-:Down syndrome.Turner syndrome.Skeletal dysplasia ( achondroplasia).

3 -How to get mid-parental height?Mid parental centile is very important.

How to get mid-parental centile?A- standard way using old growth chartsIn a boy: Mid-parental height (cm) = (Father's height + (Mother's height + 13)) divided by 2.In a girl: Mid-parental height (cm) = ((Father's height - 13) + Mother's height) divided by 2.

B- the new curves

In these curves, it’s very simple to get the MPH. only you can plot father’s and mother’s height on the appropriate part of the chart to get the MPH.

What else about MPH

4 -how to get the expected adult height?

New growth charts scale

5 -other measures

Before giving up your measuring tab, you should complete your measurements by these

important measures-:1-Upper and lower segments.

2 -Arm span.And it is extremely valuable to have the WEIGHT, and head circumference as this will affect your differential diagnosis.

How to measure upper and lower segments?

You should measure the upper segment( US ) then by using the total height you will obtain LS.Upper segment is the sitting height.

Interpretation of US/LS ratio

Disproportionate short statue with short LS-:AchondroplesiaOsteogenesis imperfecta.Refractory rickets.

Disproportionate short stature with short US-:Spondyloepiphysial dysplasia.Mucopolysaccharidosis.

Arm span

3 -DD of short stature

In fact, there are many causes of short stature, but the most common causes of short stature are-:

1 -constitutional short stature.2 -familial short stature.

3 -endocrinal causes as hypothyroidism and GH deficiency.

4 -chronic diseases as coeliac disease, CF and chronic infection.

5 -maternal deprivation.

4 -Algorithm

5 -history

A- perinatal historyInfections, placental insufficiency, poor nutrition, and medication adverse effects can impair fetal growth and development.

Perinatal history may point to specific pathologies, such as hypopituitarism or hypothyroidism; birth measurements reflect intrauterine conditions; duration of gestation determines pre- or post maturity.

B- nutritional historyMalnutrition is the most common cause of poor growth worldwide; thus, a detailed history of quality and quantity of nutrition is critical in the evaluation of abnormal growth; a 24-hour food recall or three-day food diary is important in the evaluation.

Ask about nutrition, including problems with feeding, appetite, food science, special diets or any other indication of inadequate nutrition.

C- family history

Father's height and age during pubertal growth spurt; mother's height and age at menarche; heights of siblings, grandparents, uncles, and aunts; medical conditions of family members.

The heights of parents determine the heights of their children; most children also follow their parents' pubertal tempos; certain genetic disorders can lead to short or tall stature.

D- history of chronic diseases

This step is very important through system review to exclude chronic infections and chronic illnesses.

*GITChronic diarrhea, abdominal pain and git bleeding…… IBD.

Diarrhea, weight loss and abdominal distention….. Coeliac disease.

*RespiratoryRecurrent adenoid….. CF.Long history of uncontrolled asthma.

*RenalPolyuria and edema…… CRF.Polyuria, rickets…..RTA.Recurrent UTI….. CRF.

*othersPoor academic performance…. Hypothyroidism.

Recurrent infections and poor wound healing….. Immunodeficiency.

E- social history

Growth is often impaired in refugees and in children emerging from foster care or certain international adoption settings.

6 -Examination

This approach consists ofA- measurements ( discussed before ) and maneuvers.B- General examination.

A- maneuversthe aim is to detect signs of rare syndromes

and disorders.1 -hands and feet together

This will show asymmetry of Russell Silver syndrome.Put both arms together to show asymmetry.

2-arms out straightTo detect cubitus valgus of Turner and Noonan.

B- general examination

1 -characteristic faciesAchondroplasiaTurner syndromeNoonan syndromeRussell silver syndrome.Mucpolysaccharidosis.

2 -hands and feet examination

Short 4th metacarpal ……. Turner.Trident hand……. achondroplasia.Wide carrying angle……. Turner.Asymmetry……. Russell silver syndrome.

3 -head and neck

Short webbed neck…. Turner and Noonan.Low posterior hair line…. Turner.Low set ears…… Noonan.Coarse features….. Mucopolysaccharidosis.Blue sclera…… osteogenesis imperfecta.

4 -chest and abdomen

Rosary beads….. Rickets.Wide spaced nipple….. Turner.Distended abdomen…. Coeliac.

Hepatosplenomegaly…… muopolysaccharidosis, thalassemia.Stria……. Cushing syndrome.

5 -tanner staging

It is very important here because-:Delayed puberty inConstitutional short stature.Turner syndrome.Chronic illnesses.

6 -lower limbs

Bow legs and other signs of rickets

7 -back examination

This can demonstrateScoliosis.Kyphosis.Kyphoscoliosis.

7 -investigations

In fact, most cases of short stature do not need to be investigated at the beginning. Close follow up is the best option with good nutrition and psychological support.

However, there are some indications of urgent work up, these are-:

1 -dysmorphic child.2 -disproportionate short stature.

3 -signs of pathological causes.

1 -bone age

Perform anteroposterior radiography of left hand and wrist to assess bone age.

Although the most common usage of bone age assessment is to differentiate familial from constitutional short stature, there are other benefits.

BA = bone age.CA = chronological age.

2 -CBC.This simple test may give clues to some disorders.

Microcytic hypochromic anemia…… coeliac disease and IBD.

Normocytic anemia…… Chronic diseases, thalassemia and chronic renal failure.

3 -LFTs and RFTs.Another simple investigations to role out chronic kidney disease and other chronic liver infections.

Elevated serum bilirubin may be seen with hemolytic anemias as thalassemia .

4 -hormonal assay.These tests are needed when endocrinal disorders are greatly suspected.

The most common endocrinal causes are:-Hypothyroidism: TSH, free T4,T3.

GH deficiency:--IGF-I, IGF-binding protein 3 and GH stimulation tests.

Cushing syndrome:- midnight serum cortisol, salivary cortisol, 24-hour urinary free cortisol estimations and dexamethasone suppression test.

5 -coeliac screen.

6 -karyotyping.This test is specially for diagnosis of Turner syndrome and to differentiate Turner from Noonan syndrome.

8 -common disorders.In this section we will discuss in brief the most common causes of short stature and the common differential diagnosis.

Those areFamilial vs constitutional short stature.Turner vs Noonan.

Familial vs constitutional short stature.

Turner syndrome

Noonan syndrome

9 -management

Management of short stature is mainly management of the cause, however, there are

general rules-:1 -follow up.

2 -good balanced nutrition.3-good psychological support .

Indication of GH treatment in short child

1 -GH deficiency.2 -turner syndrome.

3 -Russell silver syndrome.4 -CKD.

summary

Short stature is a common problem in pediatric practice .

Measurements are the most important step in assessment and management.Growth charts should be used properly.

Regular follow up is the main initial management step.

Familial and constitutional short stature are the most common causes .

Turner syndrome should be suspected in every short girl.GH treatment is used in few specific cases.

Best Of Luck