{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T13:53:27Z","timestamp":1753883607267,"version":"3.41.2"},"reference-count":10,"publisher":"The Endocrine Society","issue":"8","license":[{"start":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T00:00:00Z","timestamp":1750723200000},"content-version":"vor","delay-in-days":11,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,6,13]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>We describe a 19-month-old male with GH deficiency, central hypothyroidism, and hypoprolactinemia due to a novel mutation of POU1F1. The patient presented with short stature and a compound heterozygous mutation of POU1F1: the pathogenic nonsense variant was inherited from his mother [c.514C &amp;gt; T (p.Arg172)] and a variant of unknown significance from his father [c.182G &amp;gt; T (p.Gly61Val)]. He had a recumbent length of 69\u2005cm (Z score \u20135.27) and a weight of 7.94\u2005kg (Z score \u20133.09) at 19 months. Further evaluation showed free T4 0.8\u2005ng\/dL (10.3\u2005pmol\/L) [reference range: 0.88-4.8\u2005ng\/dL (11.3-61.8\u2005pmol\/L)], TSH 3.270\u2005\u00b5IU\/mL (reference range: 0.82-5.91\u2005\u00b5IU\/mL), IGF binding protein 3 407\u2005\u00b5g\/L (reference range: 1289 \u22123634\u2005\u00b5g\/L), and prolactin 3.1\u2005ng\/mL [(7.75\u2005nmol\/L) (reference range: 5.3-28.9\u2005ng\/mL) (13.5-72.3\u2005nmol\/L)]. Levothyroxine, 3.1\u2005\u00b5g\/kg\/day was started. A GH stimulation test using clonidine showed a peak GH level of 0.7\u2005ng\/mL (0.7\u2005\u00b5g\/L) [reference range: \u2265 10\u2005ng\/mL (\u2265 10\u2005\u00b5g\/L)]. Magnetic resonance imaging of the brain showed anterior pituitary hypoplasia. He was started on GH 0.17\u2005mg\/kg\/week with good response. To the best of our knowledge, the c.182G &amp;gt; T (p. Gly61Val) variant in POU1F1 is likely pathogenic, contributing to the pituitary hormone deficiencies in this child.<\/jats:p>","DOI":"10.1210\/jcemcr\/luaf139","type":"journal-article","created":{"date-parts":[[2025,6,29]],"date-time":"2025-06-29T03:17:58Z","timestamp":1751167078000},"source":"Crossref","is-referenced-by-count":0,"title":["Short Stature Due to a Novel Compound Heterozygous Mutation of the <i>POU1F1<\/i> Gene"],"prefix":"10.1210","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0391-3759","authenticated-orcid":false,"given":"Sabitha","family":"Sasidharan Pillai","sequence":"first","affiliation":[{"name":"Center for Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles , Los Angeles, CA 90027 ,","place":["USA"]},{"name":"Department of Pediatrics, Keck School of Medicine, University of Southern California , Los Angeles, CA 90033 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9709-0724","authenticated-orcid":false,"given":"Charles","family":"Strom","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Keck School of Medicine, University of Southern California , Los Angeles, CA 90033 ,","place":["USA"]},{"name":"Division of Medical Genetics, Children's Hospital Los Angeles , Los Angeles, CA 90027 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clement C","family":"Cheung","sequence":"additional","affiliation":[{"name":"Center for Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles , Los Angeles, CA 90027 ,","place":["USA"]},{"name":"Department of Pediatrics, Keck School of Medicine, University of Southern California , Los Angeles, CA 90033 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0130-9101","authenticated-orcid":false,"given":"Chanika","family":"Phornphutkul","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology and Diabetes, Rhode Island Hospital\/Hasbro Children's Hospital, Division of Genetics and Metabolism, Brown University , Providence, RI 02903 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2025,6,24]]},"reference":[{"key":"2025062823175275800_luaf139-B1","doi-asserted-by":"crossref","first-page":"381","DOI":"10.3389\/fendo.2019.00381","article-title":"Extreme short stature and severe neurological impairment in a 17-year-old male with untreated combined pituitary hormone deficiency due to POU1F1 mutation","volume":"10","author":"Majdoub","year":"2019","journal-title":"Front Endocrinol 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deficiency for mutations in genes regulating pituitary development and GH secretion: frequencies, phenotypes and growth outcomes","volume":"36","author":"Blum","year":"2018","journal-title":"EBioMedicine"},{"issue":"1","key":"2025062823175275800_luaf139-B8","first-page":"60","article-title":"A novel germline mutation, IVS4 + 1G &gt; A, of the POU1F1 gene underlying combined pituitary hormone deficiency","volume":"69","author":"Snabboon","year":"2007","journal-title":"Horm Res"},{"issue":"6","key":"2025062823175275800_luaf139-B9","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1111\/cen.12849","article-title":"Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort","volume":"83","author":"De Rienzo","year":"2015","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"2","key":"2025062823175275800_luaf139-B10","first-page":"679","article-title":"A \u201chot spot\u201d in the pit-l gene responsible for combined pituitary hormone deficiency: clinical and molecular correlates*","volume":"80","author":"Cohen","year":"1995","journal-title":"J Clin Endocrinol Metab"}],"container-title":["JCEM Case 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