Pseudohypoparathyroidism

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Pseudohypoparathyroidism Classification and external resources
ICD-10	E20.1
ICD-9	275.49
DiseasesDB	10835 10851
MedlinePlus	000364
eMedicine	med/1940
MeSH	D011547

Pseudohypoparathyroidism is a condition caused by resistance to the parathyroid hormone. Patients have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is appropriately high. Its pathogenesis has been linked to dysfunctional G Proteins.

Contents 1 Types 2 Related conditions 3 Presentation 4 Symptoms 5 References 6 See also

[edit] Types

• Type 1a pseudohypoparathyroidism has a characteristic phenotypic appearance (Albright's hereditary osteodystrophy), including short fourth and fifth metacarpals and a rounded facies. It is most likely an autosomal dominant disorder.^[1]
• Type 1b pseudohypoparathyroidism lacks the physical appearance of type 1a, but is biochemically similar.^[2]
• Type 2 pseudohypoparathyroidism also lacks the physical appearance of type 1a.^[3] While biochemically similar, type 1 and 2 disease may be distinguished by the differing urinary excretion of cyclic AMP in response to exogenous PTH.

[edit] Related conditions

The term pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically normal.

[edit] Presentation

This disorder is clinically manifest by blunting of fourth and fifth metacarpals. The common mnemonic "knuckle knuckle dimple dimple" refers to the blunting of the fourth and fifth metacarpal bones.

[edit] Symptoms

• hypocalcemia
• hyperphosphatemia
• elevated parathyroid hormone (hyperparathyroidism)

[edit] References

[edit] See also

• Hypoparathyroidism

v • d • e Endocrine pathology: endocrine diseases (E00-35, 240-259) Thyroid Hypothyroidism (Iodine deficiency, Cretinism, Congenital hypothyroidism, Goitre, Myxedema) - Hyperthyroidism (Graves disease, Toxic multinodular goitre, Teratoma with thyroid tissue or Struma ovarii) - Thyroiditis (De Quervain's thyroiditis, Hashimoto's thyroiditis, Riedel's thyroiditis) - Euthyroid sick syndrome Pancreas Diabetes mellitus (type 1, type 2, coma, angiopathy, ketoacidosis, nephropathy, neuropathy, retinopathy, MODY) - Hypoglycemia - Hyperinsulinism - Zollinger-Ellison syndrome - insulin receptor (Rabson-Mendenhall syndrome) Parathyroid Hypoparathyroidism (Pseudohypoparathyroidism) - Hyperparathyroidism (Primary, Secondary, Tertiary) Pituitary Hyperpituitarism (Acromegaly, Hyperprolactinaemia, SIADH) - Hypopituitarism (Simmonds' disease/Sheehan's syndrome, Kallmann syndrome, Growth hormone deficiency, Diabetes insipidus) - Adiposogenital dystrophy - Empty sella syndrome - Pituitary apoplexy Adrenal Cushing's syndrome (Nelson's syndrome, Pseudo-Cushing's syndrome) - CAH (Lipoid, 3β, 11β, 17α, 21α) - Hyperaldosteronism (Conn syndrome, Bartter syndrome) - Adrenal insufficiency (Addison's disease) - Hypoaldosteronism Gonads ovarian dysfunction (Polycystic ovary syndrome, Premature ovarian failure) - testicular dysfunction (5-alpha-reductase deficiency) - testosterone biosynthesis (17-beta-hydroxysteroid dehydrogenase deficiency) - general (Hypogonadism, Delayed puberty, Precocious puberty) Other Androgen insensitivity syndrome - Autoimmune polyendocrine syndrome - Carcinoid syndrome - Gigantism - Short stature (Laron syndrome, Psychogenic dwarfism) - Multiple endocrine neoplasia (1, 2) - Progeria - Woodhouse-Sakati syndrome

v • d • e Inborn errors of metal metabolism (E83, 275) Cu Wilson's disease - Menkes disease Fe Primary iron overload disorder: Haemochromatosis (Juvenile) - Aceruloplasminemia - Atransferrinemia Zn Acrodermatitis enteropathica PO43− Hyperphosphatemia - Hypophosphatemia - Hypophosphatasia Mg2+ Hypermagnesemia - Hypomagnesemia Ca2+ Hypercalcaemia - Hypocalcaemia - Pseudohypoparathyroidism - Pseudopseudohypoparathyroidism