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Chemosensory Disorders and Nutrition
Published in Alan R. Hirsch, Nutrition and Sensation, 2023
Carl M. Wahlstrom, Alan R. Hirsch, Bradley W. Whitman
Pseudohypoparathyroidism is a syndrome that includes short stature, rounded face, mental retardation, brachymetacarpia, brachymetatarsia, hypocalcemia, hyperphosphatemia, and resistance to parathyroid hormone (Mackay-Sim 1991). Hyposmias and hypogeusia are also seen in pseudohypoparathyroidism. With onset at birth, patients are usually unaware of their hyposmia and are unresponsive to hormones. In this condition, hyposmia has been localized to an X-linked dominant chromosome.
Endocrine and reproductive disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Albright's hereditary osteodystrophy (encompassing pseudohypoparathyroidism and pseudopseudohypoparathyroidism) is now understood in molecular terms as being due to receptor defects in the adenyl cyclase system, the gene GNAS encoding the Gs-α protein. Formerly considered to be X-linked, it is now recognised as autosomal dominant but subject to imprinting effects. Most fully expressed cases are maternally transmitted, as the endocrine aspects are much less fully expressed when transmitted through the father.
Endocrinology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Mehul Dattani, Catherine Peters
Hypoparathyroidism may be due to mutations in or near the PTH gene on chromosome 11, polyglandular autoimmune syndrome and post surgery. DiGeorge syndrome is due to developmental defects of the structures that derive from the third and fourth pharyngeal pouches and branchial pouches. Pseudohypoparathyroidism is due to a mutation in the α-subunit of the G-protein coupled to the PTH receptor.
The dental manifestations and orthodontic implications of hypoparathyroidism in childhood
Published in Journal of Orthodontics, 2018
Amy Arora Gallacher, M. N. Pemberton, D. T. Waring
Pseudohypoparathyroidism is a relatively uncommon disorder which can remain undiagnosed for a number of years. Orthodontists may however be uniquely positioned to identify the dental anomalies seen in patients with this condition, through their clinical and radiographic examinations. If combinations of dental anomalies, such as the ones described in this case report, are present it is important that clinicians remain mindful that an underlying systemic disorder such as hypoparathyroidism or pseudohypoparathyroidism may be involved. Awareness of this condition could prompt early investigation and intervention, impacting the patients overall long-term health.
Pseudohypoparathyroidism presenting in children at a tertiary hospital in Johannesburg, South Africa
Published in Journal of Endocrinology, Metabolism and Diabetes of South Africa, 2020
N Madi, FY Moosa, KB Parbhoo, JM Pettifor, K Thandrayen
Pseudohypoparathyroidism (PHP) represents a group of disorders due to end organ resistance to the actions of parathyroid hormone (PTH) and abnormalities in the PTH signalling pathway. PHP is characterised by hypocalcaemia, hyperphosphatemia and high PTH levels, with or without a variable expression of physical features; the constellation of these physical features together are termed Albright hereditary osteodystrophy (AHO). Other disorders related to PTH resistance and PTH signalling pathway impairment are pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH) or osteoma cutis and acrodysostosis.1