Albright hereditary osteodystrophy Q78.1

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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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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Albright et al., 1942

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Probably not an independent clinical picture but a group of related diseases with or without parathormone resistance (pseudohypoparathyroidism).

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

Clinical features
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Multiple osteomas in skin and subcutaneous tissue. Pachydermia, brachydactyly (especially of the 4th and 5th finger, knckle-knuckle-dimple-dimple sign), dwarfism, obesity, oligophrenia, calcification of the basal ganglia and multiple skeletal anomalies. Association with hypothyroidism and hypogonadism. Tendency to hypocalcemic tetany.

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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).

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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.

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  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


Please ask your physician for a reliable diagnosis. This website is only meant as a reference.


Last updated on: 29.10.2020