Hypoparathyroidism is a rare condition, hereditary or sporadic, in which the parathyroid glands are absent or atrophic. It manifests itself in boyhood. The parathyroid organs are periodically missing and thymic aplasia and malchanging of the arteries originating from the branchial arches are also present ( Di George syndrome ). Other inherited forms include autoimmune polyglandular insufficiency syndrome, autoimmune hypoparathyroidism associated with mucocutaneous candidiasis, and X-linked recessive idiopathic hypoparathyroidism calcium score test in Wayne.
Pseudohypoparathyroidism is a rare committee of illnesses depicted not by hormone weakness but by victim organ obstructionto parathyroid hormone. There is a complex genetic transmission of these pathologies. The Pseudohypoparathyroidism Type Ia (Albright hereditary osteodystrophy) is caused by a mutation in the stimulatory Gs-protein alpha1 of the adenylate cyclase complex ( GNAS1 ). The outcome is a lack of the normal renal phosphate response or an increase in adenosineurinary cyclic monophosphate in response to parathyroid hormone. Patients are usually hypocalcemic and hyperphosphatemic. Secondary hyperparathyroidism and hyperparathyroid osteopathy may consequently occur. Associated changes include short stature, round face, intellectual disability with calcification of the basal ganglia, shorter-than-normal metacarpal and metatarsal bones, mild hypothyroidism, and other nuanced endocrinological changes. Since only the maternal allele of GNAS1 is expressed in the kidneys, patients in whom the pathological gene has paternal origin, although they have many of the somatic features of the disease, do not have hypocalcemia, hyperphosphataemia or secondary hyperparathyroidism; this condition is sometimes described as pseudopseudohypoparathyroidism.
The type Ib Pseudohypoparathyroidism is less known. Affected patients present with hypocalcemia, hyperphosphataemia, and secondary hyperparathyroidism, but have no other associated abnormalities. The Pseudohypoparathyroidism Type II is still less common than Type I. In patients, the parathyroid exogenous physiologically elevated levels of adenosine monophosphate urinary cyclic, but does not increase serum calcium or urinary phosphate levels. Intracellular resistance to urinary cyclic adenosine monophosphate has been hypothesized.
Vitamin D deficiency and dependence
The shortages and dependence on vitamin D are covered in detail elsewhere.
Vitamin D is obtained from foods that are naturally rich in vitamin D or added to it. It also forms in the skin in response to sunlight (ultraviolet light). Vitamin D weakness may be secondary to not taking dietary input or reduced assimilation expected to hepatobiliary illness or intestinal malabsorption. It can also occur as a result of impaired vitamin D metabolism as occurs with some drugs (eg, phenytoin, phenobarbital, rifampicin) or as a result of reduced formation in the skin due to lack of exposure to sunlight. Aging also decreases the synthetic capacity of the skin.