{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T15:35:20Z","timestamp":1772120120499,"version":"3.50.1"},"reference-count":55,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2023,12,26]],"date-time":"2023-12-26T00:00:00Z","timestamp":1703548800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,12,26]],"date-time":"2023-12-26T00:00:00Z","timestamp":1703548800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hormones"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:sec>\n                    <jats:title>Abstract<\/jats:title>\n                    <jats:p>\n                      The most commonly identified genetic cause of combined pituitary hormone deficiency (CPHD) is\n                      <jats:italic>PROP1<\/jats:italic>\n                      gene mutations. The aim of the study was to compare selected clinical features of patients with CPHD caused by variants of the\n                      <jats:italic>PROP1<\/jats:italic>\n                      gene (CPHD-PROP1) and patients with inborn CPHD of other etiology (CPHD-nonPROP1).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Material and methods<\/jats:title>\n                    <jats:p>\n                      The retrospective analysis included childhood medical records of 74 patients (32 female) with CPHD, including 43 patients (23 female) with the mutation in the\n                      <jats:italic>PROP1<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Patients with CPHD-PROP1 compared to the CPHD-nonPROP1 presented with the following: significantly higher median birth weight (0.21 vs.\u2009\u2212\u20090.29 SDS,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.019), lower growth velocity within 3\u00a0years preceding growth hormone administration (\u2212\u20092.7 vs.\u2009\u2212\u20090.8 SDS,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001), higher mean maximal blood concentration of growth hormone within the stimulation process (1.2 vs. 1.08\u00a0ng\/mL,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.003), lower TSH (1.8 vs. 2.4 \u00b5IU\/mL,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001), significantly lower prolactin concentrations (128 vs. 416.3 \u00b5IU\/mL,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001), and less frequent typical signs of hypogonadism at birth in boys (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20096; 30% vs.\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200912, 54%,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001). Secondary adrenal insufficiency was less frequent in CPHD-PROP1 (20 vs. 25 cases,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.006) and occurred at a later age (13.4 vs. 10.4\u00a0years). MRI of the pituitary gland in CPHD-PROP1 revealed a small pituitary gland (21 cases), pituitary gland enlargement (eight cases), and one pituitary stalk interruption and posterior lobe ectopy, while it was normal in nine cases.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Patients with the\n                      <jats:italic>PROP1<\/jats:italic>\n                      mutations present a clinical picture significantly different from that of other forms of congenital hypopituitarism. Certain specific clinical results may lead to the successful identification of children requiring diagnostics for the\n                      <jats:italic>PROP1<\/jats:italic>\n                      gene mutation.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s42000-023-00510-1","type":"journal-article","created":{"date-parts":[[2023,12,26]],"date-time":"2023-12-26T00:13:32Z","timestamp":1703549612000},"page":"69-79","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins"],"prefix":"10.1007","volume":"23","author":[{"given":"Agata","family":"Zygmunt-G\u00f3rska","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3889-1913","authenticated-orcid":false,"given":"Ma\u0142gorzata","family":"W\u00f3jcik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandra","family":"Gilis-Januszewska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Starmach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miros\u0142aw","family":"Bik-Multanowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerzy B.","family":"Starzyk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,12,26]]},"reference":[{"issue":"1","key":"510_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s40618-014-0141-2","volume":"38","author":"F Castinetti","year":"2015","unstructured":"Castinetti F, Reynaud R, Quentien MH, Jullien N, Marquant E, Rochette C et al (2015) Combined pituitary hormone deficiency: current and future status. J Endocrinol Invest 38(1):1\u201312. https:\/\/doi.org\/10.1007\/s40618-014-0141-2","journal-title":"J Endocrinol Invest"},{"issue":"3\u20134","key":"510_CR2","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1159\/000057962","volume":"57","author":"J Crone","year":"2002","unstructured":"Crone J, Pf\u00e4ffle R, Stobbe H, Prayer D, Gomez I, Frisch H (2002) Familial combined pituitary hormone deficiency caused by PROP-1 gene mutation. Growth patterns and MRI studies in untreated subjects. Horm Res 57(3\u20134):120\u2013126. https:\/\/doi.org\/10.1159\/000057962","journal-title":"Horm Res"},{"issue":"1","key":"510_CR3","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1515\/jpem.2007.20.1.27","volume":"20","author":"R Coya","year":"2007","unstructured":"Coya R, Vela A, Perez de Nanclares G, Rica I, Castano L, Busturia MA et al (2007) Panhypopituitarism: genetic versus acquired etiological factors. J Pediatr Endocrinol Metab 20(1):27\u201336. https:\/\/doi.org\/10.1515\/jpem.2007.20.1.27","journal-title":"J Pediatr Endocrinol Metab"},{"issue":"2","key":"510_CR4","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1038\/ng0298-147","volume":"18","author":"W Wu","year":"1998","unstructured":"Wu W, Cogan JD, Pf\u00e4ffle RW, Dasen JS, Frisch H, O\u2019Connell SM et al (1998) Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nat Genet 18(2):147\u2013149. https:\/\/doi.org\/10.1038\/ng0298-147","journal-title":"Nat Genet"},{"issue":"7","key":"510_CR5","doi-asserted-by":"publisher","first-page":"1097","DOI":"10.1590\/s0004-27302007000700012","volume":"51","author":"TC Vieira","year":"2007","unstructured":"Vieira TC, Boldarine VT, Abucham J (2007) Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency. Arq Bras Endocrinol Metabol 51(7):1097\u20131103. https:\/\/doi.org\/10.1590\/s0004-27302007000700012","journal-title":"Arq Bras Endocrinol Metabol"},{"issue":"5","key":"510_CR6","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1159\/000332693","volume":"76","author":"B Obermannova","year":"2011","unstructured":"Obermannova B, Pfaeffle R, Zygmunt-Gorska A, Starzyk J, Verkauskiene R, Smetanina N et al (2011) Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects. Horm Res Paediatr 76(5):348\u2013354. https:\/\/doi.org\/10.1159\/000332693","journal-title":"Horm Res Paediatr"},{"issue":"4","key":"510_CR7","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1210\/er.2001-0030","volume":"23","author":"LE Cohen","year":"2002","unstructured":"Cohen LE, Radovick S (2002) Molecular basis of combined pituitary hormone deficiencies. Endocr Rev 23(4):431\u2013442. https:\/\/doi.org\/10.1210\/er.2001-0030","journal-title":"Endocr Rev"},{"issue":"8","key":"510_CR8","doi-asserted-by":"publisher","first-page":"1692","DOI":"10.3390\/jcm10081692","volume":"10","author":"\u0141 Kluczy\u0144ski","year":"2021","unstructured":"Kluczy\u0144ski \u0141, Gilis-Januszewska A, Godlewska M, W\u00f3jcik M, Zygmunt-G\u00f3rska A, Starzyk J et al (2021) Diversity of pathological conditions affecting pituitary stalk. J Clin Med 10(8):1692. https:\/\/doi.org\/10.3390\/jcm10081692","journal-title":"J Clin Med"},{"issue":"8","key":"510_CR9","doi-asserted-by":"publisher","first-page":"2779","DOI":"10.1210\/jcem.85.8.6744","volume":"85","author":"MGF Osorio","year":"2000","unstructured":"Osorio MGF, Kopp P, Marui S, Latronico AC, Mendonca BB, Arnhold IJP (2000) Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1. J Clin Endocrinol Metab 85(8):2779\u201385. https:\/\/doi.org\/10.1210\/jcem.85.8.6744","journal-title":"J Clin Endocrinol Metab"},{"key":"510_CR10","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1016\/j.ebiom.2018.09.026","volume":"36","author":"WF Blum","year":"2018","unstructured":"Blum WF, Klammt J, Amselem S, Pf\u00e4ffle HM, Legendre M, Sobrier ML et al (2018) Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: frequencies, phenotypes and growth outcomes. EBioMedicine 36:390\u2013400. https:\/\/doi.org\/10.1016\/j.ebiom.2018.09.026","journal-title":"EBioMedicine"},{"issue":"2","key":"510_CR11","doi-asserted-by":"publisher","first-page":"167","DOI":"10.20945\/2359-3997000000139","volume":"63","author":"FA Correa","year":"2019","unstructured":"Correa FA, Nakaguma M, Madeira JLO, Nishi MY, Abr\u00e3o MG, Jorge AAL, Carvalho LR, Arnhold IJP, Mendon\u00e7a BB (2019) Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery. Arch Endocrinol Metab 63(2):167\u2013174. https:\/\/doi.org\/10.20945\/2359-3997000000139","journal-title":"Arch Endocrinol Metab"},{"issue":"9","key":"510_CR12","doi-asserted-by":"publisher","first-page":"3346","DOI":"10.1210\/jcem.83.9.5142","volume":"83","author":"JD Cogan","year":"1998","unstructured":"Cogan JD, Wu W, Phillips JA 3rd, Arnhold IJ, Agapito A, Fofanova OV, Osorio MG, Bircan I, Moreno A, Mendonca BB (1998) The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. J Clin Endocrinol Metab 83(9):3346\u20133349. https:\/\/doi.org\/10.1210\/jcem.83.9.5142","journal-title":"J Clin Endocrinol Metab"},{"issue":"7","key":"510_CR13","doi-asserted-by":"publisher","first-page":"2601","DOI":"10.1210\/jcem.83.7.5094","volume":"83","author":"O Fofanova","year":"1998","unstructured":"Fofanova O, Takamura N, Kinoshita E, Parks JS, Brown MR, Peterkova VA, Evgrafov OV, Goncharov NP, Bulatov AA, Dedov II, Yamashita S (1998) Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency. J Clin Endocrinol Metab 83(7):2601\u20132604. https:\/\/doi.org\/10.1210\/jcem.83.7.5094","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"510_CR14","doi-asserted-by":"publisher","first-page":"555","DOI":"10.2214\/ajr.174.2.1740555","volume":"174","author":"O Fofanova","year":"2000","unstructured":"Fofanova O, Takamura N, Kinoshita E, Vorontsov A, Vladimirova V, Dedov I, Peterkova V, Yamashita S (2000) MR imaging of the pituitary gland in children and young adults with congenital combined pituitary hormone deficiency associated with PROP1mutations. AJR Am J Roentgenol 174(2):555\u2013559. https:\/\/doi.org\/10.2214\/ajr.174.2.1740555","journal-title":"AJR Am J Roentgenol"},{"issue":"1","key":"510_CR15","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1210\/jc.2001-011872","volume":"88","author":"TC Vieira","year":"2003","unstructured":"Vieira TC, Dias da Silva MR, Cerutti JM, Brunner E, Borges M, Arnaldi LT et al (2003) Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of prophet of Pit-1 presenting as constitutional growth delay. J Clin Endocrinol Metab 88(1):38\u201344. https:\/\/doi.org\/10.1210\/jc.2001-011872","journal-title":"J Clin Endocrinol Metab"},{"key":"510_CR16","first-page":"1","volume":"5","author":"I Palczewska","year":"2001","unstructured":"Palczewska I, Nied\u017awiedzka A (2001) Wska\u017aniki rozwoju somatycznego dzieci i m\u0142odzie\u017cy warszawskiej. Med Wieku Roz 5:1\u2013118","journal-title":"Med Wieku Roz"},{"issue":"239","key":"510_CR17","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1136\/adc.45.239.13","volume":"45","author":"WA Marshall","year":"1970","unstructured":"Marshall WA, Tanner JM (1970) Variations in the pattern of pubertal changes in boys. Arch Dis Child 45(239):13\u201323. https:\/\/doi.org\/10.1136\/adc.45.239.13","journal-title":"Arch Dis Child"},{"issue":"235","key":"510_CR18","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1136\/adc.44.235.291","volume":"44","author":"WA Marshall","year":"1969","unstructured":"Marshall WA, Tanner JM (1969) Variations in pattern of pubertal changes in girls. Arch Dis Child 44(235):291\u2013303. https:\/\/doi.org\/10.1136\/adc.44.235.291","journal-title":"Arch Dis Child"},{"issue":"3","key":"510_CR19","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1111\/j.1365-2265.2005.02215.x","volume":"62","author":"A Mehta","year":"2005","unstructured":"Mehta A, Hindmarsh PC, Dattani MT (2005) An update on the biochemical diagnosis of congenital ACTH insufficiency. Clin Endocrinol (Oxf) 62(3):307\u2013314. https:\/\/doi.org\/10.1111\/j.1365-2265.2005.02215.x","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"4","key":"510_CR20","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1007\/BF02019654","volume":"20","author":"M Maghnie","year":"1990","unstructured":"Maghnie M, Triulzi F, Larizza D, Scotti G, Beluffi G, Cecchini A et al (1990) Hypothalamic-pituitary dwarfism: comparison between MR imaging and CT findings. Pediatr Radiol 20(4):229\u2013235. https:\/\/doi.org\/10.1007\/BF02019654","journal-title":"Pediatr Radiol"},{"issue":"1","key":"510_CR21","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1210\/jc.2013-3090","volume":"99","author":"R Navardauskaite","year":"2014","unstructured":"Navardauskaite R, Dusatkova P, Obermannova B, Pfaeffle RW, Blum WF, Adukauskiene D, Smetanina N, Cinek O, Verkauskiene R, Lebl J (2014) High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency. J Clin Endocrinol Metab 99(1):299\u2013306. https:\/\/doi.org\/10.1210\/jc.2013-3090","journal-title":"J Clin Endocrinol Metab"},{"issue":"8","key":"510_CR22","doi-asserted-by":"publisher","first-page":"4043","DOI":"10.1210\/jc.2010-0150","volume":"95","author":"S Dateki","year":"2010","unstructured":"Dateki S, Fukami M, Uematsu A, Kaji M, Iso M, Ono M, Mizota M, Yokoya S, Motomura K, Kinoshita E, Moriuchi H, Ogata T (2010) Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion. J Clin Endocrinol Metab 95(8):4043\u20134047. https:\/\/doi.org\/10.1210\/jc.2010-0150","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"510_CR23","doi-asserted-by":"publisher","first-page":"849","DOI":"10.1111\/cen.12849","volume":"83","author":"F De Rienzo","year":"2015","unstructured":"De Rienzo F, Mellone S, Bellone S, Babu D, Fusco I, Prodam F, Petri A, Muniswamy R, De Luca F, Salerno M, Momigliano-Richardi P, Bona G, Giordano M Italian Study Group on Genetics of CPHD (2015) Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. Clin Endocrinol (Oxf) 83(6):849\u201360. https:\/\/doi.org\/10.1111\/cen.12849","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"6","key":"510_CR24","first-page":"570","volume":"54","author":"N Kandemir","year":"2012","unstructured":"Kandemir N, Vurall\u0131 D, Ta\u015fk\u0131ran E, G\u00f6n\u00e7 N, \u00d6z\u00f6n A, Alika\u015fifo\u011flu A, Y\u0131lmaz E (2012) Frequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency. Turk J Pediatr 54(6):570\u2013575","journal-title":"Turk J Pediatr"},{"issue":"6","key":"510_CR25","doi-asserted-by":"publisher","first-page":"725","DOI":"10.1111\/cen.13430","volume":"87","author":"JL Madeira","year":"2017","unstructured":"Madeira JL, Nishi MY, Nakaguma M, Benedetti AF, Biscotto IP, Fernandes T, Pequeno T, Figueiredo T, Franca MM, Correa FA, Otto AP, Abr\u00e3o M, Miras MB, Santos S, Jorge AA, Costalonga EF, Mendonca BB, Arnhold IJ, Carvalho LR (2017) Molecular analysis of Brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations. Clin Endocrinol (Oxf) 87(6):725\u2013732. https:\/\/doi.org\/10.1111\/cen.13430","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"4","key":"510_CR26","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1111\/j.1365-2265.2006.02617.x","volume":"65","author":"MC Lemos","year":"2006","unstructured":"Lemos MC, Gomes L, Bastos M, Leite V, Limbert E, Carvalho D, Bacelar C, Monteiro M, Fonseca F, Agapito A, Castro JJ, Regateiro FJ, Carvalheiro M (2006) PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency. Clin Endocrinol (Oxf) 65(4):479\u2013485. https:\/\/doi.org\/10.1111\/j.1365-2265.2006.02617.x","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"4","key":"510_CR27","doi-asserted-by":"publisher","first-page":"645","DOI":"10.1007\/s11102-022-01243-x","volume":"25","author":"C Diwaker","year":"2022","unstructured":"Diwaker C, Thadani P, Memon SS, Sarathi V, Lila AR, Arya S, Krishnappa B, Karlekar M, Patil VA, Shah N, Bandgar T (2022) Pituitary stalk interruption syndrome: phenotype, predictors, and pathophysiology of perinatal events. Pituitary 25(4):645\u2013652. https:\/\/doi.org\/10.1007\/s11102-022-01243-x","journal-title":"Pituitary"},{"issue":"2","key":"510_CR28","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1046\/j.1365-2265.2002.01550.x","volume":"57","author":"A Arroyo","year":"2002","unstructured":"Arroyo A, Pernasetti F, Vasilyev VV, Amato P, Yen SS, Mellon PL (2002) A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty. Clin Endocrinol (Oxf) 57(2):283\u2013291. https:\/\/doi.org\/10.1046\/j.1365-2265.2002.01550.x","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"3","key":"510_CR29","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1530\/eje.1.01989","volume":"153","author":"J Lebl","year":"2005","unstructured":"Lebl J, Vos\u00e1hlo J, Pfaeffle RW, Stobbe H, Cern\u00e1 J, Novotn\u00e1 D, Zapletalov\u00e1 J, Kalvachov\u00e1 B, H\u00e1na V, Weiss V, Blum WF (2005) Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects. Eur J Endocrinol 153(3):389\u2013396. https:\/\/doi.org\/10.1530\/eje.1.01989","journal-title":"Eur J Endocrinol"},{"issue":"10","key":"510_CR30","doi-asserted-by":"publisher","first-page":"5256","DOI":"10.1210\/jc.2004-0661","volume":"89","author":"A B\u00f6ttner","year":"2004","unstructured":"B\u00f6ttner A, Keller E, Kratzsch J, Stobbe H, Weigel JF, Keller A, Hirsch W, Kiess W, Blum WF, Pf\u00e4ffle RW (2004) PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis. J Clin Endocrinol Metab 89(10):5256\u20135265. https:\/\/doi.org\/10.1210\/jc.2004-0661","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"510_CR31","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1016\/j.beem.2016.09.005","volume":"30","author":"M Giordano","year":"2016","unstructured":"Giordano M (2016) Genetic causes of isolated and combined pituitary hormone deficiency. Best Pract Res Clin Endocrinol Metab 30(6):679\u2013691. https:\/\/doi.org\/10.1016\/j.beem.2016.09.005","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"issue":"2","key":"510_CR32","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1046\/j.1365-2265.2002.01550.x","volume":"57","author":"A Arroyo","year":"2002","unstructured":"Arroyo A, Pernasetti F, Vasilyev VV, Amato P, Yen SS, Mellon PL (2002) A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty. Clin Endocrinol (Oxf) 57(2):283\u2013291. https:\/\/doi.org\/10.1046\/j.1365-2265.2002.01550.x","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"5","key":"510_CR33","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1159\/000350829","volume":"79","author":"C Deal","year":"2013","unstructured":"Deal C, Hasselmann C, Pf\u00e4ffle RW, Zimmermann AG, Quigley CA, Child CJ, Shavrikova EP, Cutler GB Jr, Blum WF (2013) Associations between pituitary imaging abnormalities and clinical and biochemical phenotypes in children with congenital growth hormone deficiency: data from an international observational study. Horm Res Paediatr 79(5):283\u2013292. https:\/\/doi.org\/10.1159\/000350829","journal-title":"Horm Res Paediatr"},{"issue":"4","key":"510_CR34","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1054\/ghir.2001.0204","volume":"11","author":"M Pavlou","year":"2001","unstructured":"Pavlou M, Tsatsoulis A, Efstathiadou Z, Bitsis S, Papadopoulou ZL (2001) A study of the growth-promoting and metabolic effects of growth hormone (GH) in a patient with the \u201cgrowth without GH\u201d syndrome. Growth Horm IGF Res 11(4):225\u2013230. https:\/\/doi.org\/10.1054\/ghir.2001.0204","journal-title":"Growth Horm IGF Res"},{"issue":"5","key":"510_CR35","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1159\/000245932","volume":"72","author":"G Gat-Yablonski","year":"2009","unstructured":"Gat-Yablonski G, Lazar L, Bar M, de Vries L, Weintrob N, Phillip M (2009) Growth without growth hormone and similar dysmorphic features in three patients with sporadic combined pituitary hormone deficiencies. Horm Res 72(5):302\u2013309. https:\/\/doi.org\/10.1159\/000245932","journal-title":"Horm Res"},{"issue":"4","key":"510_CR36","doi-asserted-by":"publisher","first-page":"272","DOI":"10.5114\/pedm.2021.109129","volume":"27","author":"J Chrzanowska","year":"2021","unstructured":"Chrzanowska J, Zubkiewicz-Kucharska A, Seifert M, Ca\u0142kosi\u0144ski A, Noczy\u0144ska A (2021) Clinical evaluation of 31 children with pituitary insufficiency in the course of the pituitary stalk interruption syndrome. The unexpected growth without growth hormone in 2 children. Pediatr Endocrinol Diabetes Metab 27(4):272\u2013282. https:\/\/doi.org\/10.5114\/pedm.2021.109129","journal-title":"Pediatr Endocrinol Diabetes Metab"},{"issue":"3","key":"510_CR37","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1530\/eje.0.1500257","volume":"150","author":"A Voutetakis","year":"2004","unstructured":"Voutetakis A, Maniati-Christidi M, Kanaka-Gantenbein C, Dracopoulou M, Argyropoulou M, Livadas S, Dacou-Voutetakis C, Sertedaki A (2004) Prolonged jaundice and hypothyroidism as the presenting symptoms in a neonate with a novel Prop1 gene mutation (Q83X). Eur J Endocrinol 150(3):257\u2013264. https:\/\/doi.org\/10.1530\/eje.0.1500257","journal-title":"Eur J Endocrinol"},{"issue":"5","key":"510_CR38","doi-asserted-by":"publisher","first-page":"1645","DOI":"10.1210\/jcem.84.5.5681","volume":"84","author":"J Delado\u00eby","year":"1999","unstructured":"Delado\u00eby J, Fl\u00fcck C, B\u00fcy\u00fckgebiz A, Kuhlmann BV, Ebl\u00e9 A, Hindmarsh PC, Wu W, Mullis PE (1999) \u201cHot spot\u201d in the PROP1 gene responsible for combined pituitary hormone deficiency. J Clin Endocrinol Metab 84(5):1645\u20131650. https:\/\/doi.org\/10.1210\/jcem.84.5.5681","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"510_CR39","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1210\/jcem.85.1.6324","volume":"85","author":"F Pernasetti","year":"2000","unstructured":"Pernasetti F, Toledo SP, Vasilyev VV, Hayashida CY, Cogan JD, Ferrari C, Louren\u00e7o DM Jr, Mellon PL (2000) Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301\u2013302delAG) in the prophet of Pit-1 gene. J Clin Endocrinol Metab 85(1):390\u2013397. https:\/\/doi.org\/10.1210\/jcem.85.1.6324","journal-title":"J Clin Endocrinol Metab"},{"issue":"9","key":"510_CR40","doi-asserted-by":"publisher","first-page":"4529","DOI":"10.1210\/jcem.86.9.7811","volume":"86","author":"S Vallette-Kasic","year":"2001","unstructured":"Vallette-Kasic S, Barlier A, Teinturier C, Diaz A, Manavela M, Berthez\u00e8ne F, Bouchard P, Chaussain JL, Brauner R, Pellegrini-Bouiller I, Jaquet P, Enjalbert A, Brue T (2001) PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency. J Clin Endocrinol Metab 86(9):4529\u20134535. https:\/\/doi.org\/10.1210\/jcem.86.9.7811","journal-title":"J Clin Endocrinol Metab"},{"issue":"8","key":"510_CR41","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2020.600962","volume":"2","author":"I Bosch","year":"2021","unstructured":"Bosch I, Ara L, Katugampola H, Dattani MT (2021) Congenital hypopituitarism during the neonatal period: epidemiology, pathogenesis, therapeutic options, and outcome. Front Pediatr 2(8):600962. https:\/\/doi.org\/10.3389\/fped.2020.600962","journal-title":"Front Pediatr"},{"issue":"5","key":"510_CR42","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.14470","volume":"28","author":"MI P\u00e9rez Mill\u00e1n","year":"2016","unstructured":"P\u00e9rez Mill\u00e1n MI, Brinkmeier ML, Mortensen AH, Camper SA (2016) PROP1 triggers epithelial-mesenchymal transition-like process in pituitary stem cells. Elife 28(5):e14470. https:\/\/doi.org\/10.7554\/eLife.14470","journal-title":"Elife"},{"issue":"3","key":"510_CR43","doi-asserted-by":"publisher","first-page":"698","DOI":"10.1210\/me.2004-0341","volume":"19","author":"RD Ward","year":"2005","unstructured":"Ward RD, Raetzman LT, Suh H, Stone BM, Nasonkin IO, Camper SA (2005) Role of PROP1 in pituitary gland growth. Mol Endocrinol 19(3):698\u2013710. https:\/\/doi.org\/10.1210\/me.2004-0341","journal-title":"Mol Endocrinol"},{"issue":"2","key":"510_CR44","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1038\/ng0298-147","volume":"18","author":"W Wu","year":"1998","unstructured":"Wu W, Cogan JD, Pf\u00e4ffle RW, Dasen JS, Frisch H, O\u2019Connell SM, Flynn SE, Brown MR, Mullis PE, Parks JS, Phillips JA 3rd, Rosenfeld MG (1998) Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nat Genet 18(2):147\u2013149. https:\/\/doi.org\/10.1038\/ng0298-147","journal-title":"Nat Genet"},{"issue":"5","key":"510_CR45","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1007\/BF03344131","volume":"29","author":"A Voutetakis","year":"2006","unstructured":"Voutetakis A, Sertedaki A, Livadas S, Xekouki P, Bossis I, Dacou-Voutetakis C, Argyropoulou MI (2006) Pituitary size fluctuation in long-term MR studies of PROP1 deficient patients: a persistent pathophysiological mechanism? J Endocrinol Invest 29(5):462\u2013466. https:\/\/doi.org\/10.1007\/BF03344131","journal-title":"J Endocrinol Invest"},{"issue":"9","key":"510_CR46","doi-asserted-by":"publisher","first-page":"4353","DOI":"10.1210\/jcem.86.9.7828","volume":"86","author":"FG Riepe","year":"2001","unstructured":"Riepe FG, Partsch CJ, Blankenstein O, M\u00f6nig H, Pf\u00e4ffle RW, Sippell WG (2001) Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. J Clin Endocrinol Metab 86(9):4353\u20134357. https:\/\/doi.org\/10.1210\/jcem.86.9.7828","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"510_CR47","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1007\/s12020-014-0498-1","volume":"49","author":"F Ba\u015f","year":"2015","unstructured":"Ba\u015f F, Uyguner ZO, Darendeliler F, Aycan Z, \u00c7etinkaya E, Berbero\u011flu M, \u015eiklar Z, \u00d6cal G, Darcan \u015e, G\u00f6k\u015fen D, Topalo\u011flu AK, Y\u00fcksel B, \u00d6zbek MN, Ercan O, Evliyao\u011flu O, \u00c7etinkaya S, \u015een Y, Atabek E, Toksoy G, Aydin BK, Bundak R (2015) Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study. Endocrine 49(2):479\u2013491. https:\/\/doi.org\/10.1007\/s12020-014-0498-1","journal-title":"Endocrine"},{"issue":"7","key":"510_CR48","doi-asserted-by":"publisher","first-page":"653","DOI":"10.1515\/jpem.2009.22.7.653","volume":"22","author":"A Zygmunt-G\u00f3rska","year":"2009","unstructured":"Zygmunt-G\u00f3rska A, Starzyk J, Adamek D, Radwa\u0144ska E, Sucharski P, Herman-Sucharska I, Pietrzyk JJ (2009) Pituitary enlargement in patients with PROP1 gene inactivating mutation represents cystic hyperplasia of the intermediate pituitary lobe. Histopathology and over 10 years follow-up of two patients. J Pediatr Endocrinol 22(7):653\u201360. https:\/\/doi.org\/10.1515\/jpem.2009.22.7.653","journal-title":"J Pediatr Endocrinol"},{"issue":"8","key":"510_CR49","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1016\/j.ejmg","volume":"56","author":"A Akcay","year":"2013","unstructured":"Akcay A, Ulucan K, Taskin N, Boyraz M, Akcay T, Zurita O, Gomez A, Heath KE, Campos-Barros A (2013) Suprasellar mass mimicking a hypothalamic glioma in a patient with a complete PROP1 deletion. Eur J Med Genet 56(8):445\u2013451. https:\/\/doi.org\/10.1016\/j.ejmg","journal-title":"Eur J Med Genet"},{"issue":"3","key":"510_CR50","doi-asserted-by":"publisher","first-page":"261","DOI":"10.4274\/jcrpe.galenos.2020.2019.0191","volume":"12","author":"FD Bulut","year":"2020","unstructured":"Bulut FD, \u00d6zdemir Dilek S, Kotan D, Mengen E, G\u00fcrb\u00fcz F, Y\u00fcksel B (2020) Mutations within the transcription factor PROP1 in a cohort of Turkish patients with combined pituitary hormone deficiency. J Clin Res Pediatr Endocrinol 12(3):261\u2013268. https:\/\/doi.org\/10.4274\/jcrpe.galenos.2020.2019.0191","journal-title":"J Clin Res Pediatr Endocrinol"},{"issue":"3","key":"510_CR51","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1053\/beem.2002.0218","volume":"16","author":"S Mody","year":"2002","unstructured":"Mody S, Brown MR, Parks JS (2002) The spectrum of hypopituitarism caused by PROP1 mutations. Best Pract Res Clin Endocrinol Metab 16(3):421\u2013431. https:\/\/doi.org\/10.1053\/beem.2002.0218","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"issue":"9","key":"510_CR52","doi-asserted-by":"publisher","first-page":"3329","DOI":"10.1210\/jc.2005-2173","volume":"91","author":"R Reynaud","year":"2006","unstructured":"Reynaud R, Gueydan M, Saveanu A, Vallette-Kasic S, Enjalbert A, Brue T et al (2006) Genetic screening of combined pituitary hormone deficiency: experience in 195 patients. J Clin Endocrinol Metab 91(9):3329\u201336. https:\/\/doi.org\/10.1210\/jc.2005-2173","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"510_CR53","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1111\/j.1365-2265.2004.02189.x","volume":"62","author":"LA Rainbow","year":"2005","unstructured":"Rainbow LA, Rees SA, Shaikh MG, Shaw NJ, Cole T, Barrett TG, Kirk JM (2005) Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia. Clin Endocrinol (Oxf) 62(2):163\u2013168. https:\/\/doi.org\/10.1111\/j.1365-2265.2004.02189.x","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"5","key":"510_CR54","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1159\/000308169","volume":"73","author":"LC de Graaff","year":"2010","unstructured":"de Graaff LC, Argente J, Veenma DC, Drent ML, Uitterlinden AG, Hokken-Koelega AC (2010) PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1\/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency. Horm Res Paediatr 73(5):363\u2013371. https:\/\/doi.org\/10.1159\/000308169","journal-title":"Horm Res Paediatr"},{"issue":"3","key":"510_CR55","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1159\/000324087","volume":"93","author":"E Fernandez-Rodriguez","year":"2011","unstructured":"Fernandez-Rodriguez E, Quinteiro C, Barreiro J, Marazuela M, Pereiro I, Pein\u00f3 R, Cabezas-Agr\u00edcola JM, Dominguez F, Casanueva FF, Bernabeu I (2011) Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: prevalence, evolution of hormone dysfunction and genetic analysis. Neuroendocrinology 93(3):181\u2013188. https:\/\/doi.org\/10.1159\/000324087","journal-title":"Neuroendocrinology"}],"updated-by":[{"DOI":"10.1007\/s42000-024-00543-0","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T00:00:00Z","timestamp":1710720000000}}],"container-title":["Hormones"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s42000-023-00510-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s42000-023-00510-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s42000-023-00510-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T03:27:03Z","timestamp":1710732423000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s42000-023-00510-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,26]]},"references-count":55,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["510"],"URL":"https:\/\/doi.org\/10.1007\/s42000-023-00510-1","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-3152500\/v1","asserted-by":"object"}]},"ISSN":["1109-3099","2520-8721"],"issn-type":[{"value":"1109-3099","type":"print"},{"value":"2520-8721","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,26]]},"assertion":[{"value":"13 July 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 November 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 December 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 March 2024","order":4,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":5,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"A Correction to this paper has been published:","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"https:\/\/doi.org\/10.1007\/s42000-024-00543-0","URL":"https:\/\/doi.org\/10.1007\/s42000-024-00543-0","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was conducted according to the Declaration of Helsinki on \u201cEthical Principles for Medical Research in Humans\u201d (July 9, 2018). The study was approved by the local Jagiellonian University Ethics Committee (no. KBET\/100\/B\/2010, date: June 25, 2010).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Informed written consent was obtained from every patient and every patient\u2019s parents\/guardians.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}