Albright’s hereditary osteodystrophy

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Albright's hereditary osteodystrophy.

Albright's hereditary osteodystrophy is a rare inherited metabolic disorder characterized by a typical phenotype. It may be associated with or without resistance to parathyroid hormone (pseudohypoparathyroidism). Both forms may co-exist in the same family. Pseudohypoparathyroidism Type 1 and Pseudo-pseudohypoparathyroidism occur as a consequence of reduced erythrocyte membrane coupled with Gs a...

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Imprinting in Albright's hereditary osteodystrophy.

Review of published reports of Albright's hereditary osteodystrophy (AHO) involving two or more generations shows a marked excess of maternal transmission. Full expression of the gene (AHO + hormone resistance, pseudohypoparathyroidism) occurs in maternally transmitted cases and partial expression (AHO alone) when the gene is inherited from the father, suggesting the involvement of genomic impr...

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Albright’s Hereditary Osteodystrophy: A Constellation of Clinical Features

Pseudohypoparathyroidism (PHP) is an inherited metabolic disorder characterized by end-organ resistance to the action of PTH (Parathyroid Hormone). There are four types of PHPs namely Ia, Ib, Ic and II. PHP Ia is associated with a constellation of clinical features referred to as Albright’s Hereditary Osteodystrophy (AHO). The oral manifestation of AHO found in the literature includes aplasia a...

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Coexisting primary hyperparathyroidism and Albright's hereditary osteodystrophy--an unusual association.

Primary hyperparathyroidism associated with Albright's hereditary osteodystrophy was diagnosed in a 22 year old Japanese woman, the second such case to be reported. Albright's hereditary osteodystrophy (AHO) appears to be associated with a larger number of disorders than the well recognized pseudohypoparathyroidism. AHO and pseudo-pseudohypoparathyroidism are essentially identical.

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ژورنال

عنوان ژورنال: QJM: An International Journal of Medicine

سال: 2020

ISSN: 1460-2725,1460-2393

DOI: 10.1093/qjmed/hcaa102