{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T01:43:05Z","timestamp":1780450985198,"version":"3.54.1"},"reference-count":44,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2023,4,28]],"date-time":"2023-04-28T00:00:00Z","timestamp":1682640000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Down syndrome is the most common chromosomal abnormality diagnosed in newborn babies. Infants with Down syndrome have characteristic dysmorphic features and can have neuropsychiatric disorders, cardiovascular diseases, gastrointestinal abnormalities, eye problems, hearing loss, endocrine and hematologic disorders, and many other health issues. We present the case of a newborn with Down syndrome. The infant was a female, born at term through c-section. She was diagnosed before birth with a complex congenital malformation. In the first few days of life, the newborn was stable. In her 10th day of life, she started to show respiratory distress, persistent respiratory acidosis, and persistent severe hyponatremia, and required intubation and mechanical ventilation. Due to her rapid deterioration our team decided to do a screening for metabolic disorders. The screening was positive for heterozygous Duarte variant galactosemia. Further testing on possible metabolic and endocrinologic issues that can be associated with Down syndrome was performed, leading to hypoaldosteronism and hypothyroidism diagnoses. The case was challenging for our team because the infant also had multiple metabolic and hormonal deficiencies. Newborns with Down syndrome often require a multidisciplinary team, as besides congenital cardiac malformations they can have metabolic and hormonal deficiencies that can negatively impact their short- and long-term prognosis.<\/jats:p>","DOI":"10.3390\/medicina59050856","type":"journal-article","created":{"date-parts":[[2023,4,28]],"date-time":"2023-04-28T10:51:52Z","timestamp":1682679112000},"page":"856","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report"],"prefix":"10.3390","volume":"59","author":[{"given":"Ioana","family":"Rosca","sequence":"first","affiliation":[{"name":"Neonatology Department, Clinical Hospital of Obstetrics and Gynecology \u201cProf. Dr. P.Sirbu\u201d, 060251 Bucharest, Romania"},{"name":"Faculty of Midwifery and Nursery, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 020021 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alina","family":"Turenschi","sequence":"additional","affiliation":[{"name":"Emergency Clinical Hospital for Children \u201cGrigore Alexandrescu\u201d, 011743 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alin","family":"Nicolescu","sequence":"additional","affiliation":[{"name":"Cardiology Department, Emergency Clinical Hospital for Children \u201cM.S. Curie\u201d, 41451 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0260-8293","authenticated-orcid":false,"given":"Andreea Teodora","family":"Constantin","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 020021 Bucharest, Romania"},{"name":"Pediatrics Department, National Institute for Mother and Child Health \u201cAlessandrescu-Rusescu\u201d, 020395 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adina Maria","family":"Canciu","sequence":"additional","affiliation":[{"name":"Emergency Clinical Hospital for Children \u201cGrigore Alexandrescu\u201d, 011743 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice Denisa","family":"Dica","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department, Clinical Psychiatric Hospital \u201cAl. Obregia\u201d, 041914 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2979-3433","authenticated-orcid":false,"given":"Elvira","family":"Bratila","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 020021 Bucharest, Romania"},{"name":"Obstetrics and Gynecology Department, Clinical Hospital of Obstetrics and Gynecology \u201cProf. Dr. P.Sirbu\u201d, 060251 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2043-9307","authenticated-orcid":false,"given":"Ciprian Andrei","family":"Coroleuca","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 020021 Bucharest, Romania"},{"name":"Obstetrics and Gynecology Department, Clinical Hospital of Obstetrics and Gynecology \u201cProf. Dr. P.Sirbu\u201d, 060251 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonard","family":"Nastase","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 020021 Bucharest, Romania"},{"name":"Neonatology Department, National Institute for Mother and Child Health \u201cAlessandrescu-Rusescu\u201d, 011061 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,4,28]]},"reference":[{"key":"ref_1","first-page":"16","article-title":"Assessment and Care of the Newborn with Down Syndrome","volume":"9","author":"Ranweiler","year":"2009","journal-title":"Adv. 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