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Minerva Endocrinologica 2017 Nov 10

DOI: 10.23736/S0391-1977.17.02768-7

Copyright © 2017 EDIZIONI MINERVA MEDICA

lingua: Inglese

Pseudohypoparathyroidism

Luisella CIANFEROTTI, Maria L. BRANDI

Department of Surgery and Translational Medicine, University of Florence, Florence, Italy


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The term pseudohypoparathyroidism (PHP) refers to a spectrum of rare disorders of mineral metabolism, characterized by features due to end-organ resistance to PTH. The phenotypes of Albright hereditary osteodystrophy (AHO), originally described as associated to the disease, and progressive osseous heteroplasia, can be associated to the endocrine manifestations of hormonal resistance. Genetic or epigenetic alterations in the complex imprinted GNAS locus, encoding the alpha-subunit of the stimulatory G protein (GSα) and several other transcripts, give rise to the different forms oh PHP, which can be differentiated according to the phenotype, the response to PTH infusion and in vitro assays testing Gsα activity. Since PHP-related phenotypes are overlapping and other non GNAS-dependent disorders mimicking AHO, such as acrodysostosis, have been genetically characterized, the term PHP is today considered obsolete and better referred to the more comprehensive “inactivating PTH/PTHrP signaling disorder (iPPSD)” as proposed in a recent classification. This broad term include all the congenital rare disorders due to impaired PTH/PTHrP cAMP pathway. Genetic and epigenetic analyses, although not necessary for diagnosis made on the basis of major and minor criteria according to clinical and biochemical signs, will let to differentiate among the different forms for proper therapeutic planning, counseling and follow-up.


KEY WORDS: Hypocalcemia - PHP1A - PHP1B - PPHP - POH - AHO - GNAS - PTH - PTHrP - Hormonal resistance - Albright hereditary osteodystrophy - iPPSD

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Publication History

Article first published online: November 10, 2017
Manuscript accepted: November 7, 2017
Manuscript received: October 19, 2017

Per citare questo articolo

Cianferotti L, Brandi ML. Pseudohypoparathyroidism. Minerva Endocrinol 2017 Nov 10. DOI: 10.23736/S0391-1977.17.02768-7

Corresponding author e-mail

marialuisa.brandi@unifi.it