Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Disorders of the parathyroid hormone system

The parathyroid glands consists of four small glands behind the thyroid. Its hormone parathyroid hormone (PTH) controls calcium homeostasis. Dysfunction is characterized by inadequately low or height PTH or calcium. As a consequence osteological disturbances, organ calcification and kidney stone can develop.

Diagnosis

The diagnosis can be easily made by measurement of calcium and PTH in plasma. Sometimes phosphate and vitamin D metabolites in plasma and urinary excretion of calcium and phosphate may be helpful.

Differentials

Two types of parathyroid dysfunction may be distinguished hyperthyroidosis and hypothyroidosis. An inadequate response of receptors to parathyroid hormone is termed pseudohypoparathyroidism.

Systematic

Hereditary endocrinological diseases
Autoimmune polyendokrinopathy
Disorder of the aldosterone system
Disorder of the thyroid hormon system
Disorders of sex development
Disorders of the growth control system
Disorders of the parathyroid hormone system
Humoral hypercalcemia of malignancy
PTHLH
Hyperparathyroidism
AP2S1
CASR
CDC73
Familial Isolated Hyperparathyroidism
GCM2
GNA11
Hypoparathyroidism
AP2S1
CASR
GCM2
GNA11
Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome
GATA3
Hypoparathyroidism-retardation-dysmorphism syndrome
TBCE
Kenny-Caffey syndrome
TBCE
PTH
Parathyroid carcinoma
CDC73
Pseudohyperparathyreoidism
Metaphyseal chondrodysplasia of Murk Jansen type
PTH1R
Pseudohypoparathyroidism
Albright hereditary osteodystrophy
GNAS
Pseudohypoparathyroidism type IB
GNAS
STX16
Disorders of the steroid hormone system
Hereditary diabetes insipidus
Hereditary dsorders of the pituitary gland
Kidney disease appearing as endocrinological disorders
Pheochromocytoma

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Update: Sept. 26, 2018