From the Guidelines
The top causes of short stature are primarily driven by genetic factors, constitutional delay of growth, and occult diseases, with familial short stature and chromosome abnormalities being the most common pathologic diagnoses. According to a study published in Genetics in Medicine 1, the evaluation of short stature involves considering various potential diagnoses, including familial short stature, constitutional delay of growth, occult pulmonary, renal or gastrointestinal disease, endocrinopathies, and genetic disorders. The study reported that almost 50% of patients referred for genetic evaluation with short stature were considered to have either constitutional delay of growth or familial short stature.
Some of the key causes of short stature include:
- Genetic factors, such as familial short stature and chromosomal abnormalities like Turner syndrome
- Constitutional delay of growth, which is a non-pathologic condition where children experience delayed puberty and growth spurts
- Occult diseases, including pulmonary, renal, or gastrointestinal diseases
- Endocrinopathies, such as growth hormone deficiency or hypothyroidism
- Genetic disorders, including recognized multiple malformation syndromes
- Previously unrecognized endocrine causes, which were identified in almost 2% of cases in the study 1
It is essential to note that early identification and treatment of the underlying causes of short stature can often improve growth outcomes, particularly when addressed before puberty ends. A comprehensive evaluation by a medical geneticist, considering both pathologic and non-pathologic conditions, is crucial in determining the underlying cause of short stature and providing appropriate management.
From the Research
Causes of Short Stature
The following are some of the top causes of short stature:
- Familial short stature 2
- Idiopathic short stature 3
- Constitutional delay of growth and puberty (CDGP) 4
- Growth hormone deficiency 5, 3, 2
- Turner syndrome 5, 3, 4
- Chronic systemic illnesses 2
- Endocrinopathies 2
- Rickets 2, 4
- Skeletal dysplasia 2
- Chromosomal disorders 2
- Emotional deprivation 2
- SHOX gene haploinsufficiency 3
- Noonan Syndrome 3
- Chronic renal insufficiency 3, 6
- Prader-Willi Syndrome 3
- Small for gestational age (SGA) without catch-up growth 3
- Pan-hypopituitarism 4
- Primary hypothyroidism 4
- Achondroplasia 4
- Chronic anaemia 4
- Bronchial asthma 4