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The main symptoms of hypoparathyroidism are the result of the low blood calcium level, which interferes with normal muscle contraction and nerve conduction.As a result, people with hypoparathyroidism can experience paresthesia, an unpleasant tingling sensation around the mouth and in the hands and feet, as well as muscle cramps and severe spasms known as "tetany" that affect the hands and feet ...
Congenital iodine deficiency syndrome (CIDS) is a medical condition present at birth marked by impaired physical and mental development, due to insufficient thyroid hormone (hypothyroidism) often caused by insufficient dietary iodine during pregnancy. It is one cause of underactive thyroid function at birth, called congenital hypothyroidism ...
Pseudopseudohypoparathyroidism (PPHP) is an inherited disorder, [1] named for its similarity to pseudohypoparathyroidism in presentation. It is more properly Albright hereditary osteodystrophy, although without resistance of parathyroid hormone (PTH), as frequently seen in that affliction. The term is used to describe a condition where the ...
Albright's hereditary osteodystrophy. Albright's hereditary osteodystrophy is a form of osteodystrophy, [4] and is classified as the phenotype of pseudohypoparathyroidism type 1A; this is a condition in which the body does not respond to parathyroid hormone. [1]
Congenital hypothyroidism (CH) is thyroid hormone deficiency present at birth. If untreated for several months after birth, severe congenital hypothyroidism can lead to growth failure and permanent intellectual disability. Infants born with congenital hypothyroidism may show no effects, or may display mild effects that often go unrecognized as ...
Frequency. ~ 2-3% of population. Autoimmune polyendocrine syndrome, type 3 is a condition characterized by the coexistence of autoimmune thyroiditis and at least one other autoimmune disease (excluding Addison's Disease). [2] Based on other organ-specific autoimmune involvement, there are multiple subtypes that are classified: type 3a shows ...
hormone therapy, antifungals, immunosuppression. Autoimmune polyendocrine syndrome type 1 (APS-1), is a subtype of autoimmune polyendocrine syndrome (autoimmune polyglandular syndrome). It causes the dysfunction of multiple endocrine glands due to autoimmunity. It is a genetic disorder, inherited in autosomal recessive fashion due to a defect ...
Specialty. Medical genetics. Barakat syndrome is a rare disease characterized by hypoparathyroidism, sensorineural deafness and renal disease, and hence also known as HDR syndrome. It is an autosomal dominant condition with incomplete penetrance and variable expressivity [2] that was first described by Amin J. Barakat et al. in 1977. [3]