Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

Mantovani, G. et al. (2018) Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement. Nature Reviews Endocrinology, 14(8), pp. 476-500. (doi: 10.1038/s41574-018-0042-0) (PMID:29959430)

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This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early-onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types. A specific diagnosis is often delayed owing to lack of recognition of the syndrome and associated features. The participants in this Consensus Statement agreed that the diagnosis of PHP should be based on major criteria, including resistance to PTH, ectopic ossifications, brachydactyly and early-onset obesity. The clinical and laboratory diagnosis should be confirmed by a molecular genetic analysis. Patients should be screened at diagnosis and during follow-up for specific features, such as PTH resistance, TSH resistance, growth hormone deficiency, hypogonadism, skeletal deformities, oral health, weight gain, glucose intolerance or type 2 diabetes mellitus, and hypertension, as well as subcutaneous and/or deeper ectopic ossifications and neurocognitive impairment. Overall, a coordinated and multidisciplinary approach from infancy through adulthood, including a transition programme, should help us to improve the care of patients affected by these disorders.

Item Type:Articles
Glasgow Author(s) Enlighten ID:Ahmed, Professor Syed Faisal
Authors: Mantovani, G., Bastepe, M., Monk, D., de Sanctis, L., Thiele, S., Usardi, A., Ahmed, S. F., Bufo, R., Choplin, T., De Filippo, G., Devernois, G., Eggermann, T., Elli, F. M., Freson, K., García Ramirez, A., Germain-Lee, E. L., Groussin, L., Hamdy, N., Hanna, P., Hiort, O., Jüppner, H., Kamenický, P., Knight, N., Kottler, M.-L., Le Norcy, E., Lecumberri, B., Levine, M. A., Mäkitie, O., Martin, R., Martos-Moreno, G. Á., Minagawa, M., Murray, P., Pereda, A., Pignolo, R., Rejnmark, L., Rodado, R., Rothenbuhler, A., Saraff, V., Shoemaker, A. H., Shore, E. M., Silve, C., Turan, S., Woods, P., Zillikens, M. C., Perez de Nanclares, G., and Linglart, A.
College/School:College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
Journal Name:Nature Reviews Endocrinology
Publisher:Nature Publishing Group
ISSN (Online):1759-5037
Published Online:29 June 2018
Copyright Holders:Copyright © 2018 The Authors
First Published:First published in Nature Reviews Endocrinology 14(8): 476-500
Publisher Policy:Reproduced under a Creative Commons License

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