Monogenic Causes of Familial Short Stature
Author Information
Author(s): Plachy Lukas, Dusatkova Petra, Amaratunga Shenali Anne, Neuman Vit, Sumnik Zdenek, Lebl Jan, Pruhova Stepanka
Primary Institution: Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czechia
Hypothesis
Familial short stature (FSS) may represent a monogenic condition inherited in an autosomal dominant manner.
Conclusion
Familial short stature is a heterogeneous condition with many monogenic causes that can be difficult to distinguish from polygenic forms without genetic testing.
Supporting Evidence
- Genetic factors play a crucial role in determining human height.
- Familial short stature (FSS) represents a significant proportion of growth disorders.
- Advancements in genetic research have revealed that FSS can also be monogenic.
- Monogenic short stature is more frequent than previously expected.
- Genetic examination is frequently the only way to differentiate AD-FSS from polygenic FSS.
Takeaway
Some kids are short because of their genes, and it can run in families. Sometimes, it's hard to tell if it's just a family thing or something more serious without special tests.
Limitations
The review does not provide specific limitations but acknowledges the complexity of diagnosing short stature.
Digital Object Identifier (DOI)
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