Saturday 25 August 2007

Other causes of short stature

Genetic causes
* Down syndrome (trisomy 21)
Silver-Russell (Russell-Silver) syndrome
Hypochondroplasia
* SHOX
gene mutations

* Turner’s Syndrome (50% - 45XO; remainder are mosaics with structural abnormalities of either X or Y)
Leri-Weill dyschondrosteosis
Growth hormone (GH) receptor gene mutations (Laron syndrome)
IGF1
gene mutation
IGF1R
gene mutation
PROP1
gene mutations
POU1F1
gene mutations
GHRH
gene mutations
GH gene mutations
Insulin receptor gene mutations (leprechaunism)

* These are the more popular/well-known genetic causes

The other causes mentioned below may also overlap with some chronic causes.

Pulmonic causes
Cystic Fibrosis
Severe asthma
Chronic obstructive pulmonary disease
Restrictive lung disease

Cardiac causes
Hypoxemia
Congestive heart failure
Low cardiac output states

Renal causes
Chronic renal insufficiency
Renal failure
Renal tubular acidosis

Psychosocial causes (placing in different environment would allow catching up)
Chronic neglect
Starvation

Gastrointestinal causes
Sprue (gluten intolerance)
Protein-losing enteropathy

Malnutrition related:
Inflammatory bowel disease - Crohn disease, ulcerative colitis
Mechanical - e.g. pyloric stenosis
Chronic bowel infection
Protein or caloric deprivation associated with enzyme deficiencies

(In the developed world, malnutrition may occur as part of more complex disease - for example, inflammatory bowel disease, or anorexia nervosa, rather than frank malnutrition.)

Malabsorption related:
Cystic fibrosis
Celiac (Coeliac) Disease

Skeletal causes
Rickets (Vit D deficiency)
Chondrodystrophies

Drug-related causes
Steroids

Another reasoning for short stature may be a
constitutional delay of growth and sexual development (i.e. delayed puberty), but this is normally corrected by itself later on.

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