000			03261nam a22004457a 4500
008			240117s20242024 xxu||||| |||| 00| 0 eng d
022			_a2755-1520
024			_aluae136 [pii]
024			_aPMC11267221 [pmc]
040			_aOvid MEDLINE(R)
099			_a39049863
245			_aDiGeorge Syndrome Diagnosed at Age 38: Challenges in Low-resource Settings and Implications of a Missed Diagnosis.
251			_aJCEM Case Reports. 2(7):luae136, 2024 Jul.
252			_aJCEM Case Rep. 2(7):luae136, 2024 Jul.
253			_aJCEM case reports
260			_c2024
260			_p2024 Jul
265			_sepublish
265			_tPubMed-not-MEDLINE
266			_z2024/07/25 04:44
520			_a22q11.2 deletion syndrome (22.q11.2 DS) is a genetic syndrome resulting from a microdeletion on chromosome 22. It has a diverse array of manifestations, and most cases are diagnosed early in childhood. We present the case of a 38-year-old female born in a developing country who presented to our clinic to establish care for a history of primary hypothyroidism. She was clinically and biochemically euthyroid on thyroid supplementation. She was also noted to have hypocalcemia in the setting of low PTH, for which the patient was previously prescribed calcitriol. Given a history of cleft palate, abnormal facial features, mild recurrent sinopulmonary infections, and her endocrine history (including short stature with height in the 6th percentile), genetic testing was obtained. She was diagnosed with a heterozygous whole gene deletion of the TBX1 gene. Additional genetic evaluation demonstrated a 2.6-Mb microdeleted segment of the 22a11.2 region encompassing 62 genes. The patient was referred to cardiology for evaluation of cardiac involvement given a history of tachyarrhythmia. This case highlights challenges in diagnosis and the implications of a delayed diagnosis of 22.q11.2 DS. Copyright © The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society.
546			_aEnglish
650			_zAutomated
651			_aMedStar Washington Hospital Center
656			_aHematology/Oncology
656			_aInternal Medicine Residency
656			_aMedicine/Endocrinology
656			_aMedStar Georgetown University Hospital/MedStar Washington Hospital Center
657			_aCase Reports
657			_aJournal Article
700			_aKuenstner, William _bMGUH _cInternal Medicine Residency _dMD
700			_aRapisuwon, Suthee _bMWHC
700			_aShobab, Leila _bMWHC
790			_aKuenstner W , Rapisuwon S , Shobab L
856			_uhttps://dx.doi.org/10.1210/jcemcr/luae136 _zhttps://dx.doi.org/10.1210/jcemcr/luae136
858			_yKuenstner, William _uhttps://orcid.org/0000-0002-7248-8012 _zhttps://orcid.org/0000-0002-7248-8012 _zhttps://orcid.org/0000-0002-1389-925X _zhttps://orcid.org/0000-0002-6534-810X
858			_yRapisuwon, Suthee _uhttps://orcid.org/0000-0002-1389-925X _zhttps://orcid.org/0000-0002-7248-8012 _zhttps://orcid.org/0000-0002-1389-925X _zhttps://orcid.org/0000-0002-6534-810X
858			_yShobab, Leila _uhttps://orcid.org/0000-0002-6534-810X _zhttps://orcid.org/0000-0002-7248-8012 _zhttps://orcid.org/0000-0002-1389-925X _zhttps://orcid.org/0000-0002-6534-810X
942			_cART _dArticle
999			_c14645 _d14645