{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T17:50:09Z","timestamp":1791481809672,"version":"4.3.4"},"reference-count":17,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,9,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2026-0136_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To report a rare association of Xp21 contiguous gene deletion syndrome (CGDS) featuring sensorineural hearing loss (SNHL), and to discuss the diagnostic and therapeutic challenges.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2026-0136_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A male infant presented with a salt-wasting adrenal crisis consistent with X-linked adrenal hypoplasia congenita. His follow-up clinical course during childhood revealed global developmental delay and SNHL, the latter of which has been under-reported in the literature for this condition. At five years of age, the development of progressive proximal muscle weakness and markedly elevated creatine phosphokinase levels led to a diagnosis of Duchenne muscular dystrophy (DMD). The patient also exhibited pseudohypertriglyceridemia and elevated urinary glycerol, consistent with glycerol kinase deficiency. While initial exome sequencing failed to detect the genetic abnormality, subsequent chromosomal microarray analysis identified an Xp21 CGDS involving\n                      <jats:italic>NR0B1<\/jats:italic>\n                      ,\n                      <jats:italic>IL1RAPL1<\/jats:italic>\n                      ,\n                      <jats:italic>DMD<\/jats:italic>\n                      , and\n                      <jats:italic>GK<\/jats:italic>\n                      . Treatment of adrenal insufficiency with fludrocortisone and hydrocortisone was complicated by the higher steroid doses required for the management of DMD, resulting in exogenous Cushing syndrome and associated complications.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2026-0136_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This case highlights the necessity of evaluating for Xp21 CGDS in patients presenting with adrenal crisis and emphasizes the importance of multidisciplinary management to optimize outcomes in this complex pediatric endocrine disorder.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2026-0136","type":"journal-article","created":{"date-parts":[[2026,6,14]],"date-time":"2026-06-14T12:56:14Z","timestamp":1781441774000},"page":"944-950","source":"Crossref","is-referenced-by-count":0,"title":["A case report of Xp21 contiguous gene deletion syndrome with adrenal crisis and sensorineural hearing loss: clinical highlights and management pitfalls"],"prefix":"10.1515","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-7439-4238","authenticated-orcid":false,"given":"Rungroj","family":"Thangpong","sequence":"first","affiliation":[{"name":"Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine , Chulalongkorn University , Bangkok , Thailand"},{"name":"Excellence Center for Genomics and Precision Medicine , King Chulalongkorn Memorial Hospital, The Thai Red Cross Society , Bangkok , Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-5721-1873","authenticated-orcid":false,"given":"Samkhwan","family":"Thongsukkaeo","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine , Chulalongkorn University , Bangkok , Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-4027-4038","authenticated-orcid":false,"given":"Kulpatra","family":"Paisansukanant","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine , Chulalongkorn University , Bangkok , Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1222-9588","authenticated-orcid":false,"given":"Nattakarn","family":"Numsriskulrat","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine , Chulalongkorn University , Bangkok , Thailand"},{"name":"Academic Services Affairs and International Education, Faculty of Medicine , Chulalongkorn University , Bangkok , Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,6,15]]},"reference":[{"key":"2026100816572541304_j_jpem-2026-0136_ref_001","doi-asserted-by":"crossref","unstructured":"Amano, N, Narumi, S, Hayashi, M, Takagi, M, Imai, K, Nakamura, T, et al.. 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