Albright hereditary osteodystrophyQ78.1

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 02.08.2021

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Synonym(s)

Albright Bantam Syndrome; Albright hereditary osteodystrophy; Albright osteodystrophy hereditary; Albright's hereditary osteodystrophy; constitutional chronic hypocalcemia; Cretinism hypoparathyroid; familial pseudohypoparathyroidism; hereditary albright osteodystrophy; Hypocalcemia constitutional chronic; hypoparathyroid cretinism; Martin Albright Syndrome; OMIM 103580; osteodystrophia hereditaria; pseudohypoparathyroidism; Pseudohypoparathyroidism; Pseudohypoparathyroidism familial; Seabright-Bantam Syndrome

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HistoryThis section has been translated automatically.

Albright et al., 1942

DefinitionThis section has been translated automatically.

Probably not an independent clinical picture. This term refers to a group of related, often autosomal-dominantly inherited diseases with or without parathyroid resistance (pseudohypoparathyroidism).

EtiopathogenesisThis section has been translated automatically.

Mostly inherited in an autosomal dominant manner. Recessive inheritance and non-hereditary forms are also known. A gene defect on chromosome 20q13 (GNAS1), a parathyroid hormone receptor of the organs of success, has been proven. Occasionally, other hormone receptors are also affected.

Clinical featuresThis section has been translated automatically.

Multiple osteomas in skin and subcutaneous tissue. Pachyderma, brachydactyly (especially of the 4th and 5th fingers, so-called knuckle-knuckle-dimple sign), short stature, obesity, oligophrenia, calcification of the basal ganglia and multiple skeletal anomalies. Association with hypothyroidism and hypogonadism. Tendency to hypocalcemic tetany.

LaboratoryThis section has been translated automatically.

Pseudopseudohyperparathyroidism (no changes in calcium metabolism) or pseudohypoparathyroidism type Ia (calcium normal or decreased, phosphate normal or increased, PTH increased, G protein deficiency, cAMP response decreased).

TherapyThis section has been translated automatically.

Monitoring of the calcium and phosphate balance by endocrinologists. Orthopaedic treatment of skeletal anomalies and, if necessary, excision of osteomas in the skin and subcutaneous fatty tissue.

LiteratureThis section has been translated automatically.

  1. Albright F, Burnett CH, Smith PH, Parson W (1942) Pseudo-hypoparathyroidism: an example of "Seabright-Bantam syndrome Endocrinology (Baltimore) 30: 922-932
  2. Albright F, Forbes AP, Henneman PH (1952) Pseudopseudohypoparathyroidism. Transactions of the Association of American Physicians (Philadelphia) 65: 337-350
  3. Brokk CGD et al (1971) Osteoma cutis and Albright's hereditary osteodystrophy. Br J Derm 85: 471-475

  4. Hugar D et al (2014) Albright hereditary osteodystrophy: a case report. J Clin Diagn Res 8:ZD28-30.

  5. Ijaz MT et al (2003) A patient with pseudohypoparathyroidism. J Ark Med Soc 100: 164-166

  6. Salemi P et al (2018) Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age
    , Hormonal Status, and BMI. J Clin Endocrinol Metab 103:158-168.

  7. Schrallhammer K et al (1988) Primary osteoma cutis. Dermatologist 39: 509-513

Authors

Last updated on: 02.08.2021

Author: Prof. Dr. med. Peter Altmeyer