Approach for Short Stature

Short Stature
Definition :
Short stature is defined as:
- Height > 2 SD below the mean for chronological age (Growth Curve)
- Child who grows below the 3rd percentile for age.

Or

- Z-score for height (standard deviation score) =

(the patient is considered short if the standard deviation score is less than -2)

Tools used to define growth in children:

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1. Obtain accurate measurement using appropriate equipment & proper positioning.

2. Presence of national growth curves & measurements are plotted on it.
3. Careful history & examination "to exclude chronic diseases & syndromes"
4. Bone age (X-ray on left hand).

Phenomena (2014)

Endocrine

Approach for Short Stature

Causes of short stature:

A) Physiological (more common):
1. Familial "Genetic" short stature (proportionate)
2. Constitutional delay (proportionate)

B) Pathological (less common):

I) Proportionate:
1) Prenatal causes:
* IUGR
* Intrauterine infections
* Genetic disorders (chromosomal & metabolic disorders):
- Seckle syndrome
- Down syndrome
- Progeria
- Turner syndrome
- Prader-Willi syndrome
- Noonan syndrome
- Laurence-Moon-Biedl syndrome
- Russell-Silver syndrome

2) Postnatal causes:
* Nutritional dwarfism
* Chronic diseases:
- CVS (left-to-right shunts & CHF)
- Pulmonary (Bronchial astma & cystic fibrosis)
- GIT (Malabsorption & Inflammatory bowel disease)
- Liver (chronic liver disease)
- Hematology (chronic hemolytic anemia)
- Renal (CRF & RTA)
- Collagen (JRA)
- Malignancy
* Endocrine disorders:
- Growth hormone deficiency
- Hypothyroidism
- Cushing syndrome & steroid therapy
- Diabetes mellitus
- Pseudohypoparathyroidism

Phenomena (2014)

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II) Disproportionate short stature:

1) Skeletal dysplasia (e.g. Achondroplasia & Osteogenesis imperfect)
2) Rickets

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* Psychological short stature (Emotional deprivation)

Endocrine

Approach for Short Stature

Familial (Genetic) short stature

- Familial short stature is the most common cause, therefore it should be excluded first.
- Mid parental height = Father height + Mother height (+ 13 for & - 13 for ) / 2 ( 5)
- The child grows within the expected target height centile (MPH 5).
- The child has normal growth velocity.
- (CA = BA) > HA.

Exclusion of genetic syndromes & chronic diseases

After exclusion of familial short stature we should exclude genetic syndromes & chronic
diseases through history taking, physical examination & investigations e.g.
- CBC, renal profile, liver function test, ESR, urine analysis.
- Karyotyping in every short girl.

Exclusion of endocrinal causes

1. Hypothyroidism (through examination & investigations of hypothyroidism including free
T4 & TSH)
2. GH deficiency (through examination & investigations including Growth hormone
provocation test following exercise, clonidine, insulin if GH level is < 10 ng for all
GH deficiency is present CT/MRI brain should be done to exclude pituitary tumors.

Constitutional short stature

- Constitutional delay of short stature is diagnosed after exclusion of all other causes.
- A period of poor growth in the 2nd year followed by normal growth velocity.

- Usually associated with delayed puberty.

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- CA > (BA = HA).

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- Positive family history of delayed dentition & puberty.

Phenomena (2014)

Endocrine

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Approach for Short Stature

Phenomena (2014)

Endocrine