{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T21:31:49Z","timestamp":1740173509963,"version":"3.37.3"},"reference-count":15,"publisher":"Endocrinology Research Centre","issue":"4","license":[{"start":{"date-parts":[[2021,9,16]],"date-time":"2021-09-16T00:00:00Z","timestamp":1631750400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.probl-endojournals.ru\/jour\/about\/editorialPolicies#openAccessPolicy"}],"content-domain":{"domain":["www.probl-endojournals.ru"],"crossmark-restriction":true},"short-container-title":["Probl Endokrinol (Mosk)"],"abstract":"<jats:p>Congenital hypopituitarism is a rare disease. It can be caused by isolated inborn defects of the pituitary, gene mutations (<jats:italic>PROP1, PIT1<\/jats:italic>), and chromosomal abnormalities.Deletions of chromosome 18 (De Grouchy syndrome types 1 and 2) are a group of rare genetic diseases with a frequency of 1:50,000. Hypopituitarism in these syndromes is detected in from 13 to 56% of cases and depends on the size and location of the deleted segment.We have described a series of clinical cases of patients with congenital hypopituitarism due to deletions in chromosome 18. All children had a characteristic dysmorphic features and delayed mental and speech development. Within first months of life, patients developed muscular hypotension, dysphagia, and respiratory disorders. The patients had various congenital malformations in combination with hypopituitarism (isolated growth hormone deficiency and multiple pituitaryhormone deficiencies). In the neonatal period, there were the presence of hypoglycemia in combination with cholestasis.Hormone replacement therapy led to rapid relief of symptoms.\u0421hromosomal microarray analysis in 2 patients allowed us to identify exact location of deleted area and deleted genes and optimize further management for them.<\/jats:p>","DOI":"10.14341\/probl12761","type":"journal-article","created":{"date-parts":[[2021,9,17]],"date-time":"2021-09-17T05:38:19Z","timestamp":1631857099000},"page":"57-67","update-policy":"https:\/\/doi.org\/10.14341\/crossmarkpolicy2018","source":"Crossref","is-referenced-by-count":0,"title":["Congenital hypopituitarism with monosomy of chromosome 18"],"prefix":"10.14341","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3127-5974","authenticated-orcid":true,"given":"A. 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Dysmorphie complexe avec oligophrenie: Deletion des bras courts d\u2019un chromosome 17-18. C R Acad Sci. 1963;258:1028."},{"key":"ref2","doi-asserted-by":"crossref","unstructured":"Cody JD, Sebold C, Malik A, et al. Recurrent interstitial deletions of proximal 18q: A new syndrome involving expressive speech delay. Am J Med Genet Part A. 2007;143A(11):1181-1190. doi: https:\/\/doi.org\/10.1002\/ajmg.a.31729","DOI":"10.1002\/ajmg.a.31729"},{"key":"ref3","doi-asserted-by":"crossref","unstructured":"Cody JD, Hasi M, Soileau B, et al. Establishing a reference group for distal 18q-: clinical description and molecular basis. Hum Genet. 2014;133(2):199-209. doi: https:\/\/doi.org\/10.1007\/s00439-013-1364-6","DOI":"10.1007\/s00439-013-1364-6"},{"key":"ref4","doi-asserted-by":"crossref","unstructured":"Turleau C. Monosomy 18p. Orphanet J Rare Dis. 2008;3(1):4. doi: https:\/\/doi.org\/10.1186\/1750-1172-3-4","DOI":"10.1186\/1750-1172-3-4"},{"key":"ref5","doi-asserted-by":"crossref","unstructured":"Hasi-Zogaj M, Sebold C, Heard P, et al. A review of 18p deletions. Am J Med Genet Part C Semin Med Genet. 2015;169(3):251-264. doi: https:\/\/doi.org\/10.1002\/ajmg.c.31445","DOI":"10.1002\/ajmg.c.31445"},{"key":"ref6","doi-asserted-by":"crossref","unstructured":"Cody JD, Hasi M, Soileau B, et al. Establishing a reference group for distal 18q-: clinical description and molecular basis. Hum Genet. 2014;133(2):199-209. doi: https:\/\/doi.org\/10.1007\/s00439-013-1364-6","DOI":"10.1007\/s00439-013-1364-6"},{"key":"ref7","doi-asserted-by":"crossref","unstructured":"Cody JD, Heard PL, Crandall AC, et al. Narrowing critical regions and determining penetrance for selected 18qphenotypes. 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