Abstract
BackgroundPseudohypoparathyroidism (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.MethodsThrough 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.ResultsIn 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.ConclusionsThe 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.
Highlights
Pseudohypoparathyroidism (PHP) represents a heterogeneous group of rare endocrine disorders caused by genetic abnormalities affecting the GNAS locus
The presented data show that the Italian Society of Pediatric Endocrinology and Diabetology (ISPED) healthcare-pathway could represent a valid tool both to confirm the clinical approach to PHP patients and to allow homogeneous data collection; 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
Summary
Pseudohypoparathyroidism (PHP) represents a heterogeneous group of rare endocrine disorders caused by (epi) genetic abnormalities affecting the GNAS locus. The term Pseudohypoparathyroidism (PHP) identifies a heterogeneous group of hereditary disorders caused by (epi) genetic [1] alterations affecting the GNAS locus, on chromosome 20q13 [2, 3] Within this locus, the homonymous gene encodes for Gsα protein, which is involved in the intracellular signal transduction of multiple peptide hormone signals and whose altered function explains the complex clinical manifestations affecting PHP patients [4] These disorders are mainly characterized by the resistance to biological actions of the parathyroid hormone, resulting in hypocalcaemia and hyperphosphataemia, in the presence of high PTH levels [5]. Compared to the previous classification based exclusively on the phenotype, iPPSDs can be further classified from iPPSD1 to iPPSD6 to the underlying molecular (epi) genetic defect, achieving an accurate clinical-molecular definition of each condition (Table 2)
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