Short stature is defined as individuals of the same race, sex and age who are two standard deviations below the mean height of the normal population (-2 SD), or below the 3rd percentile (-1.88) in similar life circumstances, some of which are normal physiological variations. In order to make a correct diagnosis, appropriate clinical observations and laboratory tests must be performed in children with growth retardation.
There are many factors leading to short stature, including many interactions, and the mechanism of short stature due to many diseases has not yet been clarified.
Etiology of short stature in children
Non-endocrine deficiency short stature
Familial idiopathic short stature, institutional delay in puberty
Growth hormone deficiency
Pituitary abnormalities such as anencephaly, optic septal hypoplasia, cleft palate, hypothalamic malformation cell tumor, etc.
Growth hormone and growth hormone-releasing hormone deficiency
Idiopathic growth hormone deficiency Mechanism unknown, pituitary hypoplasia seen in some children
Autosomal recessive inheritance Type I
Type IA GHI gene deletion autosomal dominant
Type B GHI and other genetic variants
X-linked inheritance type III
Transcription factor gene defects itl, Propl, HESX-1, LHX3 and other gene mutations
Growth hormone receptor defects Laron syndrome
Insulin-like growth factor I (IGF-I) defects
Craniofacial injury
Perinatal injury (breech delivery, ischemia and hypoxia, intracranial hemorrhage, etc.); skull base fracture, radiation injury, inflammatory sequelae, etc.
Brain infiltrating lesions
e.g., tumor, Langerhans cell histiocytosis, etc.
Others
Children younger than fetal age, neurosecretory dysfunction of growth hormone, psychosomatic short stature, chromosomal aberrations, skeletal development disorders, chronic systemic diseases, etc.
Children with short stature must be thoroughly examined to clarify the causes for treatment.