Pseudohypoparathyroidism and its various phenotypes: three sisters with three different clinical presentations

Pseudohypoparathyroidism (PHP) is a heterogeneous group of hereditary disorders characterized by clinical and biological characteristics of resistance to parathyroid hormone (PTH) caused by impaired hormonal signalling via receptors that are coupled, through the α- subunit of the stimulatory G prote...

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Autores principales:	Fabio Sippelli, Chiara Ferraloro, Giulia Visalli, Giulia Cafarella, Domenico Corica, Malgorzata Wasniewska
Formato:	article
Lenguaje:	EN
Publicado:	Accademia Peloritana dei Pericolanti 2021
Materias:	pseudohypoparathyroidism, albright osteodystrophy, pth resistance, gs-alpha protein Medicine R Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/4c5afc81c646413ba70505c374a30804
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spelling	oai:doaj.org-article:4c5afc81c646413ba70505c374a308042021-11-18T08:51:22ZPseudohypoparathyroidism and its various phenotypes: three sisters with three different clinical presentations1828-655010.13129/1828-6550/APMB.109.2.2021.CCS6https://doaj.org/article/4c5afc81c646413ba70505c374a308042021-08-01T00:00:00Zhttps://cab.unime.it/journals/index.php/APMB/article/view/3210https://doaj.org/toc/1828-6550Pseudohypoparathyroidism (PHP) is a heterogeneous group of hereditary disorders characterized by clinical and biological characteristics of resistance to parathyroid hormone (PTH) caused by impaired hormonal signalling via receptors that are coupled, through the α- subunit of the stimulatory G protein (Gsα). In some cases, resistance to other hormones (such as TSH, gonadotropins, GHRH and calcitonin) that have receptors coupled via Gsα is observed. A subset of patients with PHP are characterized by the variable expression of a collection of physical features, termed Albright hereditary osteodystrophy (AHO), which includes brachydactyly, rounded face, short stature, central obesity, subcutaneous ossifications, and variable degrees of mental retardation. These patients face a wide range of problems from early childhood to adulthood, which include potentially severe alterations in mineral metabolism, which could be associated with seizures; other endocrine deficiencies due to hormone resistance that lead to hypothyroidism, hypogonadism and GH deficiency; growth impairment independently of hormonal status; ectopic ossifications with potential severe limitation of mobility; skeletal issues and cognitive and psychomotor impairment. Here we report three sisters affected by pseudohypoparathyroidism but with remarkably differences from each other in terms of phenotypic and clinical-auxological characteristics, a demonstration of how this disease is characterized by a very heterogeneous phenotype, even among patients carrying the same genetic alteration.Fabio SippelliChiara FerraloroGiulia VisalliGiulia CafarellaDomenico CoricaMalgorzata WasniewskaAccademia Peloritana dei Pericolantiarticlepseudohypoparathyroidism, albright osteodystrophy, pth resistance, gs-alpha proteinMedicineRBiology (General)QH301-705.5ENAtti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, Vol 109, Iss 2, Pp 1-6 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	pseudohypoparathyroidism, albright osteodystrophy, pth resistance, gs-alpha protein Medicine R Biology (General) QH301-705.5
spellingShingle	pseudohypoparathyroidism, albright osteodystrophy, pth resistance, gs-alpha protein Medicine R Biology (General) QH301-705.5 Fabio Sippelli Chiara Ferraloro Giulia Visalli Giulia Cafarella Domenico Corica Malgorzata Wasniewska Pseudohypoparathyroidism and its various phenotypes: three sisters with three different clinical presentations
description	Pseudohypoparathyroidism (PHP) is a heterogeneous group of hereditary disorders characterized by clinical and biological characteristics of resistance to parathyroid hormone (PTH) caused by impaired hormonal signalling via receptors that are coupled, through the α- subunit of the stimulatory G protein (Gsα). In some cases, resistance to other hormones (such as TSH, gonadotropins, GHRH and calcitonin) that have receptors coupled via Gsα is observed. A subset of patients with PHP are characterized by the variable expression of a collection of physical features, termed Albright hereditary osteodystrophy (AHO), which includes brachydactyly, rounded face, short stature, central obesity, subcutaneous ossifications, and variable degrees of mental retardation. These patients face a wide range of problems from early childhood to adulthood, which include potentially severe alterations in mineral metabolism, which could be associated with seizures; other endocrine deficiencies due to hormone resistance that lead to hypothyroidism, hypogonadism and GH deficiency; growth impairment independently of hormonal status; ectopic ossifications with potential severe limitation of mobility; skeletal issues and cognitive and psychomotor impairment. Here we report three sisters affected by pseudohypoparathyroidism but with remarkably differences from each other in terms of phenotypic and clinical-auxological characteristics, a demonstration of how this disease is characterized by a very heterogeneous phenotype, even among patients carrying the same genetic alteration.
format	article
author	Fabio Sippelli Chiara Ferraloro Giulia Visalli Giulia Cafarella Domenico Corica Malgorzata Wasniewska
author_facet	Fabio Sippelli Chiara Ferraloro Giulia Visalli Giulia Cafarella Domenico Corica Malgorzata Wasniewska
author_sort	Fabio Sippelli
title	Pseudohypoparathyroidism and its various phenotypes: three sisters with three different clinical presentations
title_short	Pseudohypoparathyroidism and its various phenotypes: three sisters with three different clinical presentations
title_full	Pseudohypoparathyroidism and its various phenotypes: three sisters with three different clinical presentations
title_fullStr	Pseudohypoparathyroidism and its various phenotypes: three sisters with three different clinical presentations
title_full_unstemmed	Pseudohypoparathyroidism and its various phenotypes: three sisters with three different clinical presentations
title_sort	pseudohypoparathyroidism and its various phenotypes: three sisters with three different clinical presentations
publisher	Accademia Peloritana dei Pericolanti
publishDate	2021
url	https://doaj.org/article/4c5afc81c646413ba70505c374a30804
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Pseudohypoparathyroidism and its various phenotypes: three sisters with three different clinical presentations

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