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===Genetic Causes=== | ===Genetic Causes=== | ||
Isolated primary hypoparathyroidism | *Isolated primary hypoparathyroidism | ||
X-linked primary hypoparathyroidism (band Xq26-Xq27) | *X-linked primary hypoparathyroidism (band Xq26-Xq27) | ||
X autosomal-recessive primary hypoparathyroidism | *X autosomal-recessive primary hypoparathyroidism | ||
Branchial dysgenesis (DiGeorge syndrome) | *Branchial dysgenesis (DiGeorge syndrome) | ||
Chromosomal defects dup(1q),del(5p),dup(8q),del(10q),del(22q) | *Chromosomal defects dup(1q),del(5p),dup(8q),del(10q),del(22q) | ||
Monogenic hypoparathyroidism | *Monogenic hypoparathyroidism | ||
Velocardiofacial (Shprintzen) syndrome (CATCH 22 [for cardiac, abnormal facies, thymic aplasia, cleft palate, and hypocalcemia with 22q deletion] is a mnemonic for the features of this syndrome.) | *Velocardiofacial (Shprintzen) syndrome (CATCH 22 [for cardiac, abnormal facies, thymic aplasia, cleft palate, and hypocalcemia with 22q deletion] is a mnemonic for the features of this syndrome.) | ||
Zellweger syndrome | *Zellweger syndrome | ||
Diabetic embryopathy | *Diabetic embryopathy | ||
Fetal alcohol syndrome | *Fetal alcohol syndrome | ||
Retinoid embryopathy | *Retinoid embryopathy | ||
Associational arhinencephalia and/or DiGeorge syndrome and the coloboma, heart disease, choanal atresia, retarded growth and development, genital anomalies, ear anomalies (CHARGE) syndrome and/or DiGeorge syndrome | *Associational arhinencephalia and/or DiGeorge syndrome and the coloboma, heart disease, choanal atresia, retarded growth and development, genital anomalies, ear anomalies (CHARGE) syndrome and/or DiGeorge syndrome | ||
Cardiofacial–DiGeorge–Kenny-Caffey syndrome (ie, absent parathyroid tissue, growth retardation, medullary stenosis of tubular bones) | *Cardiofacial–DiGeorge–Kenny-Caffey syndrome (ie, absent parathyroid tissue, growth retardation, medullary stenosis of tubular bones) | ||
Kearns-Sayre syndrome (ie, mitochondrial myopathy, ophthalmoplegia, retinal degeneration, cardiac conduction defects, primary hypoparathyroidism) | *Kearns-Sayre syndrome (ie, mitochondrial myopathy, ophthalmoplegia, retinal degeneration, cardiac conduction defects, primary hypoparathyroidism) | ||
Barakat syndrome (ie, primary hypoparathyroidism, nerve deafness, steroid-resistant nephrosis) | *Barakat syndrome (ie, primary hypoparathyroidism, nerve deafness, steroid-resistant nephrosis) | ||
Hypoparathyroidism with short stature, mental retardation, and seizures | *Hypoparathyroidism with short stature, mental retardation, and seizures | ||
Familial isolated hypoparathyroidism | *Familial isolated hypoparathyroidism | ||
==References== | ==References== |
Revision as of 14:01, 20 September 2017
Hyperparathyroidism Microchapters |
Diagnosis |
---|
Treatment |
Case Studies |
Sandbox : anmol On the Web |
American Roentgen Ray Society Images of Sandbox : anmol |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Classification
Classification of hyperparathyridism | |||
---|---|---|---|
Features | Primary hyperparathyroidism | Secondary hyperparathyroidism | Tertiary hyperparathyroidism |
Pathology | Hyperfunction of parathyroid cells due to hyperplasia, adenoma or carcinoma. | Physiological stimulation of parathyroid in response to hypocalcaemia. | Following long term physiological stimulation leading to hyperplasia. |
Cause | |||
Associations | May be associated with multiple endocrine neoplasia. | Usually due to chronic renal failure or other causes of Vitamin D deficiency. | Seen in chronic renal failure. |
Serum calcium | High | Low/Normal | High |
Serum phosphate | Low/Normal | High | High |
Management | Usually surgery if symptomatic. Cincacalcet can be considered in those not fit for surgery. | Treatment of underlying cause. | Usually cinacalcet or surgery in those that don't respond. |
Causes
Common Causes
- Post-surgical (most common cause)[1]
- Thyroidectomy
- Parathyroidectomy
- Radical neck dissection
- Autoimmune (2nd most common cause)[2]
- Polyglandular autoimmune syndrome type 1
- Isolated autoimmune hypoparathyroidism
Less Common Causes
- Infiltration and/or destruction of parathyroid glands
- Radiation-induced destruction parathyroid glands
- Genetic causes
Genetic Causes
- Isolated primary hypoparathyroidism
- X-linked primary hypoparathyroidism (band Xq26-Xq27)
- X autosomal-recessive primary hypoparathyroidism
- Branchial dysgenesis (DiGeorge syndrome)
- Chromosomal defects dup(1q),del(5p),dup(8q),del(10q),del(22q)
- Monogenic hypoparathyroidism
- Velocardiofacial (Shprintzen) syndrome (CATCH 22 [for cardiac, abnormal facies, thymic aplasia, cleft palate, and hypocalcemia with 22q deletion] is a mnemonic for the features of this syndrome.)
- Zellweger syndrome
- Diabetic embryopathy
- Fetal alcohol syndrome
- Retinoid embryopathy
- Associational arhinencephalia and/or DiGeorge syndrome and the coloboma, heart disease, choanal atresia, retarded growth and development, genital anomalies, ear anomalies (CHARGE) syndrome and/or DiGeorge syndrome
- Cardiofacial–DiGeorge–Kenny-Caffey syndrome (ie, absent parathyroid tissue, growth retardation, medullary stenosis of tubular bones)
- Kearns-Sayre syndrome (ie, mitochondrial myopathy, ophthalmoplegia, retinal degeneration, cardiac conduction defects, primary hypoparathyroidism)
- Barakat syndrome (ie, primary hypoparathyroidism, nerve deafness, steroid-resistant nephrosis)
- Hypoparathyroidism with short stature, mental retardation, and seizures
- Familial isolated hypoparathyroidism
References
- ↑ Marx SJ (2000). "Hyperparathyroid and hypoparathyroid disorders". N. Engl. J. Med. 343 (25): 1863–75. doi:10.1056/NEJM200012213432508. PMID 11117980.
- ↑ Eisenbarth GS, Gottlieb PA (2004). "Autoimmune polyendocrine syndromes". N. Engl. J. Med. 350 (20): 2068–79. doi:10.1056/NEJMra030158. PMID 15141045.