{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T16:18:39Z","timestamp":1788970719226,"version":"build-2803163510"},"reference-count":31,"publisher":"The Endocrine Society","issue":"11","license":[{"start":{"date-parts":[[2023,4,25]],"date-time":"2023-04-25T00:00:00Z","timestamp":1682380800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,10,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Pseudohypoparathyroidism (PHP) and related disorders newly referred to as inactivating PTH\/PTHrP signaling disorders (iPPSD) are rare endocrine diseases. Many clinical features including obesity, neurocognitive impairment, brachydactyly, short stature, parathyroid hormone (PTH) resistance, and resistance to other hormones such as thyroid-stimulating hormone (TSH) have been well described, yet they refer mainly to the full development of the disease during late childhood and adulthood.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>A significant delay in diagnosis has been reported; therefore, our objective is to increase awareness on neonatal and early infancy presentation of the diseases. To do so, we analyzed a large cohort of iPPSD\/PHP patients.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We included 136 patients diagnosed with iPPSD\/PHP. We retrospectively collected data on birth and investigated the rate of neonatal complications occurring in each iPPSD\/PHP category within the first month of life.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Overall 36% of patients presented at least one neonatal complication, far more than the general population; when considering only the patients with iPPSD2\/PHP1A, it reached 47% of the patients. Neonatal hypoglycemia and transient respiratory distress appeared significantly frequent in this latter group, ie, 10.5% and 18.4%, respectively. The presence of neonatal features was associated with earlier resistance to TSH (P &amp;lt; 0.001) and with the development of neurocognitive impairment (P = 0.02) or constipation (P = 0.04) later in life.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Our findings suggest that iPPSD\/PHP and especially iPPSD2\/PHP1A newborns require specific care at birth because of an increased risk of neonatal complications. These complications may predict a more severe course of the disease; however, they are unspecific which likely explains the diagnostic delay.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgad236","type":"journal-article","created":{"date-parts":[[2023,4,25]],"date-time":"2023-04-25T18:27:46Z","timestamp":1682447266000},"page":"2961-2969","source":"Crossref","is-referenced-by-count":12,"title":["Neonatal and Early Infancy Features of Patients With Inactivating PTH\/PTHrP Signaling Disorders\/Pseudohypoparathyroidism"],"prefix":"10.1210","volume":"108","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9050-0150","authenticated-orcid":false,"given":"Giulia","family":"Del Sindaco","sequence":"first","affiliation":[{"name":"Endocrinology Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico , Milan 20122 , Italy"},{"name":"Department of Clinical Sciences and Community Health, University of Milan , Milan 20122 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jugurtha","family":"Berkenou","sequence":"additional","affiliation":[{"name":"AP-HP, Service d\u2019endocrinologie et diab\u00e8te de l\u2019enfant, H\u00f4pital Bic\u00eatre Paris-Saclay , Le Kremlin-Bic\u00eatre 94270 , France"},{"name":"AP-HP, Centre de R\u00e9f\u00e9rence des maladies rares du m\u00e9tabolisme du Calcium et du Phosphate, fili\u00e8re OSCAR, ERN BOND, ERN for rare endocrine disorders, Plateforme d\u2019expertise des maladies rares de Paris Saclay , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Pagnano","sequence":"additional","affiliation":[{"name":"Endocrinology Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico , Milan 20122 , Italy"},{"name":"Department of Clinical Sciences and Community Health, University of Milan , Milan 20122 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anya","family":"Rothenbuhler","sequence":"additional","affiliation":[{"name":"AP-HP, Service d\u2019endocrinologie et diab\u00e8te de l\u2019enfant, H\u00f4pital Bic\u00eatre Paris-Saclay , Le Kremlin-Bic\u00eatre 94270 , France"},{"name":"AP-HP, Centre de R\u00e9f\u00e9rence des maladies rares du m\u00e9tabolisme du Calcium et du Phosphate, fili\u00e8re OSCAR, ERN BOND, ERN for rare endocrine disorders, Plateforme d\u2019expertise des maladies rares de Paris Saclay , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3988-3616","authenticated-orcid":false,"given":"Maura","family":"Arosio","sequence":"additional","affiliation":[{"name":"Endocrinology Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico , Milan 20122 , Italy"},{"name":"Department of Clinical Sciences and Community Health, University of Milan , Milan 20122 , 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