Short stature refers to a height less than two standard deviations below the mean for a given age and gender. The effective investigation of short stature pathology in children combines clinical assessment, to view symptoms and bodily dysfunctions; endocrine assessment, to determine hormone levels and sensitivity; and increasingly advanced genetic analysis.
Many children of short stature do not have an identified underlying pathology, thus assigned as having idiopathic short stature (ISS). Consequently, the ISS population can be subdivided into those with ‘normal variants’ of growth, termed familial short stature (FSS) and non-familial short stature (NFSS), including constitutional delay of growth and puberty (CDGP). These categories can then separate from that of children with ISS who show a different etiology.
Growth hormone deficiency (GHD) or insensitivity are relatively well-studied phenotypes of short stature, with recognized biochemical features. However, it is suggested that stimulation tests, used to diagnose GHD, are often not reliable. The variability of these tests has provoked suggestions of another classification Short stature Unresponsive to Stimulation tests (SUS) whereby GHD is suspected but not confirmed.
Furthermore, other features and potential pathologies of short stature are coming to light with the advent of new technologies for genomic and other analysis, it is important for clinicians to consider multiple avenues before ISS or GHD is diagnosed.
The current Research Topic seeks to gather research relating to pathologies of short stature, excluding those relating to growth hormone levels or sensitivity. Submissions may include original research, reviews presenting novel perspectives, opinion or perspective, or other accepted article types.
Submissions can cover, but are not limited to:
- Genetic factors disturbing longitudinal growth and contributing to short stature;
- Endocrine factors (excluding growth hormone) contributing to short stature;
- Clinical considerations when evaluating children with short stature;
- New technologies for assessment of short stature mechanisms;
- Insights regarding patients with Short stature Unresponsive to Stimulation tests
Short stature refers to a height less than two standard deviations below the mean for a given age and gender. The effective investigation of short stature pathology in children combines clinical assessment, to view symptoms and bodily dysfunctions; endocrine assessment, to determine hormone levels and sensitivity; and increasingly advanced genetic analysis.
Many children of short stature do not have an identified underlying pathology, thus assigned as having idiopathic short stature (ISS). Consequently, the ISS population can be subdivided into those with ‘normal variants’ of growth, termed familial short stature (FSS) and non-familial short stature (NFSS), including constitutional delay of growth and puberty (CDGP). These categories can then separate from that of children with ISS who show a different etiology.
Growth hormone deficiency (GHD) or insensitivity are relatively well-studied phenotypes of short stature, with recognized biochemical features. However, it is suggested that stimulation tests, used to diagnose GHD, are often not reliable. The variability of these tests has provoked suggestions of another classification Short stature Unresponsive to Stimulation tests (SUS) whereby GHD is suspected but not confirmed.
Furthermore, other features and potential pathologies of short stature are coming to light with the advent of new technologies for genomic and other analysis, it is important for clinicians to consider multiple avenues before ISS or GHD is diagnosed.
The current Research Topic seeks to gather research relating to pathologies of short stature, excluding those relating to growth hormone levels or sensitivity. Submissions may include original research, reviews presenting novel perspectives, opinion or perspective, or other accepted article types.
Submissions can cover, but are not limited to:
- Genetic factors disturbing longitudinal growth and contributing to short stature;
- Endocrine factors (excluding growth hormone) contributing to short stature;
- Clinical considerations when evaluating children with short stature;
- New technologies for assessment of short stature mechanisms;
- Insights regarding patients with Short stature Unresponsive to Stimulation tests