Could anyone recommend literature about risk and modyfying factors in these diseases (Acromegaly and Dwarfism) ?
may be a growth hormone gene polymorphism will be a good candidate as susceptible risk factor or modyfying factor
Acromegaly happens in adults with overproduction of growth hormone, if it starts during childhood, it produces gigantism. Acromegaly is commonly caused by tumors in the hypophysis or in rare cases, by endocrine disruptors. It affects mainly the face (including chin, nose, eras, tongue) and limbs, that continue growing disproportionately
Dwarphism on the other hand, can be caused by endocrine, hypophysic affection or of genetic ethiology. Achondroplasia, a type of dwarphism, is caused by gene FGFR3 mutations and phenotypically characterized by short limbs.
Thanks Nina.
If acromegaly is not caused directly by gene mutations, so I should try to find in the literature common endocrine effect causes these two pathologies ? In acromegaly crucial is the level of IGF-1 factor, is not it ? So what endocrine disruption (in the level of hormons) is the most common cause in achondroplasia or in the other types of dwarfism ?
Also for certain kinds of dwarphism IGF-1 is involved, rare mutations in the genes that encode for releasing growth hormone have been related.
Endocrine disruptors can be endogenous, that is the case of benign tumors that affect the hypophisis or malignant tumors Located elsewhere that produce specific substances that release hormone or trigger the signaling for releasing hormones.
Exigenous sources of disruptors are pollutants, pesticides, hydrocarbons, Cadmium And metals when people are exposed in utero or after. There studies indicating that the genes that encode for Aryl hydrocarbon receptor (AHR) gene variants might be more probe to develop severe achromegalia.
http://press.endocrine.org/doi/abs/10.1210/jc.2015-4191
https://www.academia.edu/11701331/The_Roman_giant_overgrowth_syndrome_in_skeletal_remains_from_the_Imperial_Age
https://www.academia.edu/11676726/Dwarfism_in_Imperial_Rome_a_case_of_skeletal_evidence
http://www.academia.dk/MedHist/Biografier/PDF/DwarfsInAncientEgypt.pdf
Here you go, it may be useful :)
Acromegaly and dwafism are two different phenotypes caused by different genes.
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