Prof. Shobac of San Francisco examined this important theme and provided de-
scriptions of the principal causes of the condition. More in detail, she described the
genetic causes, the autoimmune forms,
the functional forms, and the forms
determined by “destructive” illnesses;
for example, tumors. What is perhaps
the principal form with a genetic etiol-
ogy is that determined by activation
of the Calcium Sensing Receptor
(CaSR) signal pathway, which determines functional altera-
tions of the natriuretic hormone. Another, non-genetic form
is linked to renal alterations which determine Mg++ deficits.
There are also autoimmune forms, the so-called Autoim-
mune Polyendocrine Syndrome or APS1, characterized by the simultaneous presence of hypoparathyroid-
ism, Addison’s Disease, and mucocutaneous candidiasis, the principal defect of which is characterized by
mutations in the AIRE system, the gene-level autoimmune regulator of endocrine functions. The patho-
genesis of this form is undoubtedly complex. There are also forms of a hypoparathyroidism defined as
“destructive”; for instance, in the case of various forms of cancer. One of the main forms is secondary to
the presence of β -thalassemia, in which case, however, control of the disorder via transfusions significantly
reduces the risk
of hypo-
parathyroidism.
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Internazionale
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Dolores Shoback
San Francisco - USA
Hypoparathyroidism:
a condition with many possible causes
How advanced are studies concerning the function of the AIRE system? - - - Which
autoantibodies are involved? - - - What pathological forms are instead linked to
disorders of renal regulation of magnesium absorption?