Daniele Tessaris1,2, Elisa Bonino3, Giovanna Weber4, Malgorzata Wasniewska5, Domenico Corica5, Marco Pitea4, Giuseppe Scirè6, Manuela Caruso-Nicoletti7, Danilo Fintini6, Luisa de Sanctis3. 1. Department of Pediatric Endocrinology, Regina Margherita Children's Hospital - Health and Science City, Turin, Italy. daniele.tessaris@unito.it. 2. Department of Public Health and Pediatrics, University of Turin, Piazza Polonia 94, 10126, Torino (TO), Italy. daniele.tessaris@unito.it. 3. Department of Pediatric Endocrinology, Regina Margherita Children's Hospital - Health and Science City, Turin, Italy. 4. Department of Pediatrics, San Raffaele Hospital, University of Milan, Milan, Italy. 5. Department of Pediatrics, Gynecological, Microbiological and Biomedical Sciences, University of Messina, Messina, Italy. 6. Endocrinology Unit, Pediatric University Department, "Bambino Gesù" Children's Hospital-IRCCS, Rome, Italy. 7. Department of Pediatrics, University of Catania, Catania, Italy.
Abstract
BACKGROUND: Pseudohypoparathyroidism (PHP) represents a heterogeneous group of rare endocrine disorders caused by (epi) genetic abnormalities affecting the GNAS locus. It is mainly characterized by resistance to PTH and TSH, and by peculiar clinical features such as short stature, obesity, cognitive impairment, subcutaneous ossifications and brachydactyly. Delayed puberty, GHRH and calcitonin resistances have also been described. The healthcare-pathway recently proposed by the Italian Society of Pediatric Endocrinology and Diabetology (ISPED) has provided a standardized clinical approach to these conditions. The purpose of the present study was to evaluate its application in clinical practice, and to collect data for setting future specific studies. METHODS: Through a semi-structured survey, based on the indications of the care-pathway, data on PHP clinical management were collected. The compilation of each data in the survey was read as an index of the adoption of the healthcare-pathway in clinical practice. RESULTS: In addition to the proposing Center, 4 Centers joined the study, thus obtaining a large collection of data on 48 PHP patients. Highest rates in the completion of data were obtained for diagnostic history, auxological measurements and subcutaneous ossifications evaluation. As expected, the availability of data for the other investigated fields was lower, coming from recent research studies. More information has been obtained on hormonal resistance classically involved in PHP (PTH, TSH, GHRH and GnRH) and on cognitive impairment, while a few data has been collected on bone mineral status, calcitonin levels and glucolipid metabolism. CONCLUSIONS: The presented data show that the ISPED healthcare-pathway could represent a valid tool both to confirm the clinical approach to PHP patients and to allow homogeneous data collection; however, it has not yet been fully adopted. The strengthening of the network among the major Italian Endocrine Centers will contribute to improve its application in clinical practice, optimizing the follow-up of these patients and increasing knowledge on PHP.
BACKGROUND:Pseudohypoparathyroidism (PHP) represents a heterogeneous group of rare endocrine disorders caused by (epi) genetic abnormalities affecting the GNAS locus. It is mainly characterized by resistance to PTH and TSH, and by peculiar clinical features such as short stature, obesity, cognitive impairment, subcutaneous ossifications and brachydactyly. Delayed puberty, GHRH and calcitonin resistances have also been described. The healthcare-pathway recently proposed by the Italian Society of Pediatric Endocrinology and Diabetology (ISPED) has provided a standardized clinical approach to these conditions. The purpose of the present study was to evaluate its application in clinical practice, and to collect data for setting future specific studies. METHODS: Through a semi-structured survey, based on the indications of the care-pathway, data on PHP clinical management were collected. The compilation of each data in the survey was read as an index of the adoption of the healthcare-pathway in clinical practice. RESULTS: In addition to the proposing Center, 4 Centers joined the study, thus obtaining a large collection of data on 48 PHP patients. Highest rates in the completion of data were obtained for diagnostic history, auxological measurements and subcutaneous ossifications evaluation. As expected, the availability of data for the other investigated fields was lower, coming from recent research studies. More information has been obtained on hormonal resistance classically involved in PHP (PTH, TSH, GHRH and GnRH) and on cognitive impairment, while a few data has been collected on bone mineral status, calcitonin levels and glucolipid metabolism. CONCLUSIONS: The presented data show that the ISPED healthcare-pathway could represent a valid tool both to confirm the clinical approach to PHP patients and to allow homogeneous data collection; however, it has not yet been fully adopted. The strengthening of the network among the major Italian Endocrine Centers will contribute to improve its application in clinical practice, optimizing the follow-up of these patients and increasing knowledge on PHP.
Authors: M Mouallem; M Shaharabany; N Weintrob; S Shalitin; N Nagelberg; H Shapira; Z Zadik; Z Farfel Journal: Clin Endocrinol (Oxf) Date: 2007-09-04 Impact factor: 3.478
Authors: Giovanna Mantovani; Luisa de Sanctis; Anna Maria Barbieri; Francesca M Elli; Valentina Bollati; Valentina Vaira; Pamela Labarile; Sara Bondioni; Erika Peverelli; Andrea G Lania; Paolo Beck-Peccoz; Anna Spada Journal: J Clin Endocrinol Metab Date: 2010-01-08 Impact factor: 5.958