{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:01:04Z","timestamp":1760058064693,"version":"build-2065373602"},"reference-count":43,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2025,3,7]],"date-time":"2025-03-07T00:00:00Z","timestamp":1741305600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100012046","name":"Vietnam Academy of Science and Technology","doi-asserted-by":"publisher","award":["KHCBSS.01\/22-24","NCXS.01.03\/23-25"],"award-info":[{"award-number":["KHCBSS.01\/22-24","NCXS.01.03\/23-25"]}],"id":[{"id":"10.13039\/100012046","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012046","name":"Institute of Genome Research","doi-asserted-by":"publisher","award":["KHCBSS.01\/22-24","NCXS.01.03\/23-25"],"award-info":[{"award-number":["KHCBSS.01\/22-24","NCXS.01.03\/23-25"]}],"id":[{"id":"10.13039\/100012046","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Hypopituitarism is a condition characterized by the deficiency of several hormones produced by the pituitary gland. Genetic factors play an important role. Variants in the POU1F1 gene are associated with combined pituitary hormone deficiency 1 (CPHD1), which manifests as deficiencies in growth hormone (GH), thyroid-stimulating hormone (TSH), and prolactin (PRL). This study aimed to analyze the phenotype, genotype, treatment, and outcomes of Vietnamese patients with deficiency. Six patients from five unrelated families, initially diagnosed with hypopituitarism, were enrolled in this study. Data on physical characteristics, biochemical tests, treatment, outcomes, and follow-up were collected. Exome sequencing and Sanger sequencing were conducted to identify disease-causing variants in five probands and their families. All six patients exhibited anterior pituitary hypoplasia on brain magnetic resonance imaging and presented with TSH, GH, and PRL deficiencies. Exome sequencing identified three variants in the POU1F1 gene: c.428G&gt;A p.(Arg143Gln), c.557T&gt;G p.(Leu186Arg), and c.811C&gt;T p.(Arg271Trp). The c.811C&gt;T p.(Arg271Trp) variant was found in three patients, while c.557T&gt;G p.(Leu186Arg) is a novel variant. Based on the ACMG classification, these variants were categorized as likely pathogenic or pathogenic variants. All patients were definitively diagnosed with CPHD1 caused by POU1F1 variants. All patients received levothyroxine and recombinant human growth hormone (rhGH) replacement therapy, leading to considerable growth. During the first year of treatment, all patients showed excellent growth response, with height increases ranging from 11 to 24 cm. After three years of treatment, two patients achieved normal height. One of the six patients developed scoliosis during treatment, which resolved after a one-year pause in rhGH therapy. Upon resuming treatment, no recurrence of scoliosis was observed. Our findings reveal the importance of early hormone testing and genetic analysis in improving the care and outcomes for patients with combined pituitary hormone deficiency.<\/jats:p>","DOI":"10.3390\/ijms26062406","type":"journal-article","created":{"date-parts":[[2025,3,7]],"date-time":"2025-03-07T09:38:46Z","timestamp":1741340326000},"page":"2406","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of POU1F1 Variants in Vietnamese Patients with Combined Pituitary Hormone Deficiency"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4490-308X","authenticated-orcid":false,"given":"Ha Thu","family":"Nguyen","sequence":"first","affiliation":[{"name":"Hanoi Medical University, 1st Ton That Tung Street, Hanoi 11521, Vietnam"},{"name":"Center of Endocrinology, Metabolism, Genetic\/Genomics and Molecular Therapy, Vietnam National Children\u2019s Hospital, 18\/879 La Thanh, Dong Da, Hanoi 11512, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khanh Ngoc","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Hanoi Medical University, 1st Ton That Tung Street, Hanoi 11521, Vietnam"},{"name":"Center of Endocrinology, Metabolism, Genetic\/Genomics and Molecular Therapy, Vietnam National Children\u2019s Hospital, 18\/879 La Thanh, Dong Da, Hanoi 11512, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tran Minh","family":"Dien","sequence":"additional","affiliation":[{"name":"Vietnam National Children\u2019s Hospital, 18\/879 La Thanh, Dong Da, Hanoi 11512, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-1404-0328","authenticated-orcid":false,"given":"Thi Bich Ngoc","family":"Can","sequence":"additional","affiliation":[{"name":"Center of Endocrinology, Metabolism, Genetic\/Genomics and Molecular Therapy, Vietnam National Children\u2019s Hospital, 18\/879 La Thanh, Dong Da, Hanoi 11512, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thi Thanh Ngan","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet Street, Cau Giay, Hanoi 10072, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9294-6722","authenticated-orcid":false,"given":"Nguyen Thi Kim","family":"Lien","sequence":"additional","affiliation":[{"name":"Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet Street, Cau Giay, Hanoi 10072, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4624-5567","authenticated-orcid":false,"given":"Nguyen Van","family":"Tung","sequence":"additional","affiliation":[{"name":"Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet Street, Cau Giay, Hanoi 10072, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3494-5136","authenticated-orcid":false,"given":"Nguyen Thi","family":"Xuan","sequence":"additional","affiliation":[{"name":"Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet Street, Cau Giay, Hanoi 10072, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nguyen Thien","family":"Tao","sequence":"additional","affiliation":[{"name":"Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet Street, Cau Giay, Hanoi 10072, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ngoc Lan","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Center for Gene and Protein Research, Hanoi Medical University, 1st Ton That Tung Street, Hanoi 11521, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Van Khanh","family":"Tran","sequence":"additional","affiliation":[{"name":"Center for Gene and Protein Research, Hanoi Medical University, 1st Ton That Tung Street, Hanoi 11521, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-5359-9477","authenticated-orcid":false,"given":"Tran Thi Chi","family":"Mai","sequence":"additional","affiliation":[{"name":"Hanoi Medical University, 1st Ton That Tung Street, Hanoi 11521, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Van Anh","family":"Tran","sequence":"additional","affiliation":[{"name":"Hanoi Medical University, 1st Ton That Tung Street, Hanoi 11521, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6284-5813","authenticated-orcid":false,"given":"Huy Hoang","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet Street, Cau Giay, Hanoi 10072, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-0418-2613","authenticated-orcid":false,"given":"Chi Dung","family":"Vu","sequence":"additional","affiliation":[{"name":"Hanoi Medical University, 1st Ton That Tung Street, Hanoi 11521, Vietnam"},{"name":"Center of Endocrinology, Metabolism, Genetic\/Genomics and Molecular Therapy, Vietnam National Children\u2019s Hospital, 18\/879 La Thanh, Dong Da, Hanoi 11512, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,3,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Bosch i Ara, L., Katugampola, H., and Dattani, M.T. 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