{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T04:53:23Z","timestamp":1782276803144,"version":"3.54.5"},"reference-count":43,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2021,3,20]],"date-time":"2021-03-20T00:00:00Z","timestamp":1616198400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,3,20]],"date-time":"2021-03-20T00:00:00Z","timestamp":1616198400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pituitary"],"published-print":{"date-parts":[[2021,10]]},"DOI":"10.1007\/s11102-021-01140-9","type":"journal-article","created":{"date-parts":[[2021,3,20]],"date-time":"2021-03-20T03:02:44Z","timestamp":1616209364000},"page":"657-669","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["POU1F1 mutations in combined pituitary hormone deficiency: differing spectrum of mutations in a Western-Indian cohort and systematic analysis of world literature"],"prefix":"10.1007","volume":"24","author":[{"given":"Swati","family":"Jadhav","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chakra","family":"Diwaker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9623-4471","authenticated-orcid":false,"given":"Anurag R.","family":"Lila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jugal V.","family":"Gada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shantanu","family":"Kale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vijaya","family":"Sarathi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Puja M.","family":"Thadani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sneha","family":"Arya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virendra A.","family":"Patil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nalini S.","family":"Shah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tushar R.","family":"Bandgar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,3,20]]},"reference":[{"key":"1140_CR1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2016-1101","author":"Q Fang","year":"2016","unstructured":"Fang Q, George AS, Brinkmeier ML, Mortensen AH, Gergics P, Cheung L, Daly AZ, Ajmal A, P\u00e9rez Mill\u00e1n M et al (2016) Genetics of combined pituitary hormone deficiency: roadmap into the genome era. Endocr Rev. https:\/\/doi.org\/10.1210\/er.2016-1101","journal-title":"Endocr Rev"},{"key":"1140_CR2","first-page":"305","volume":"85","author":"H Gilford","year":"1911","unstructured":"Gilford H (1911) Case of asexual ateleiosis. Med. Chirurg. Trans 85:305","journal-title":"Med. Chirurg. Trans"},{"key":"1140_CR3","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.15.9.733","author":"GD Snell","year":"1929","unstructured":"Snell GD (1929) Dwarf, a new Mendelian recessive character of the house mouse. Proc Natl Acad Sci USA. https:\/\/doi.org\/10.1073\/pnas.15.9.733","journal-title":"Proc Natl Acad Sci USA"},{"key":"1140_CR4","doi-asserted-by":"publisher","DOI":"10.1038\/347528a0","author":"S Li","year":"1990","unstructured":"Li S, Crenshaw EB 3rd, Rawson EJ, Simmons DM, Swanson LW, Rosenfeld MG (1990) Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1. Nature. https:\/\/doi.org\/10.1038\/347528a0","journal-title":"Nature"},{"key":"1140_CR5","doi-asserted-by":"publisher","DOI":"10.1038\/ng0492-56","author":"K Tatsumi","year":"1992","unstructured":"Tatsumi K, Miyai K, Notomi T, Kaibe K, Amino N, Mizuno Y, Kohno H (1992) Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene. Nat Genet. https:\/\/doi.org\/10.1038\/ng0492-56","journal-title":"Nat Genet"},{"key":"1140_CR6","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1999.tb14401.x","author":"RW Pf\u00e4ffle","year":"1999","unstructured":"Pf\u00e4ffle RW, Blankenstein O, W\u00fcller S, Kentrup H (1999) Combined pituitary hormone deficiency: role of Pit-1 and Prop-1. Acta Paediatr Suppl. https:\/\/doi.org\/10.1111\/j.1651-2227.1999.tb14401.x","journal-title":"Acta Paediatr Suppl"},{"key":"1140_CR7","doi-asserted-by":"publisher","DOI":"10.1007\/s11102-020-01078-4","author":"S Kale","year":"2020","unstructured":"Kale S, Gada JV, Jadhav S, Lila AR, Sarathi V, Budyal S, Patt H, Goroshi MR, Thadani PM, Arya S, Kamble AA, Patil VA, Acharya S, Sankhe S, Shivane V, Raghavan V, Bandgar TR, Shah NS (2020) Genetic spectrum and predictors of mutations in four known genes in Asian Indian patients with growth hormone deficiency and orthotopic posterior pituitary: an emphasis on regional genetic diversity. Pituitary. https:\/\/doi.org\/10.1007\/s11102-020-01078-4","journal-title":"Pituitary"},{"key":"1140_CR8","doi-asserted-by":"publisher","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.: Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. Clin Endocrinol (Oxf) (2015) doi: https:\/\/doi.org\/10.1111\/cen.12849","DOI":"10.1111\/cen.12849"},{"key":"1140_CR9","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.80.11.7593413","author":"F de Zegher","year":"1995","unstructured":"de Zegher F, Pernasetti F, Vanhole C, Devlieger H, Van den Berghe G, Martial JA (1995) The prenatal role of thyroid hormone evidenced by fetomaternal Pit-1 deficiency. J Clin Endocrinol Metab. https:\/\/doi.org\/10.1210\/jcem.80.11.7593413","journal-title":"J Clin Endocrinol Metab"},{"key":"1140_CR10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34136","author":"G Gat-Yablonski","year":"2011","unstructured":"Gat-Yablonski G, Frumkin-Ben David R, Bar M, Potievsky O, Phillip M, Lazar L (2011) Homozygous microdeletion of the POU1F1, CHMP2B, and VGLL3 genes in chromosome 3: a novel syndrome. Am J Med Genet A. https:\/\/doi.org\/10.1002\/ajmg.a.34136","journal-title":"Am J Med Genet A"},{"key":"1140_CR11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37941","author":"HE Shamseldin","year":"2016","unstructured":"Shamseldin HE, Maddirevula S, Nabil A, Al-Fadhil S, Al Tala S, Alkuraya FS (2016) Joint laxity in homozygotes for severe POU1F1 mutations. Am J Med Genet A. https:\/\/doi.org\/10.1002\/ajmg.a.37941","journal-title":"Am J Med Genet A"},{"key":"1140_CR12","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2013-0208","author":"A Aykut","year":"2014","unstructured":"Aykut A, Ozen S, S\u0131msek DG, Onay H, Cogulu O, Darcan S, Ozkinay F (2014) Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency. J Pediatr Endocrinol Metab. https:\/\/doi.org\/10.1515\/jpem-2013-0208","journal-title":"J Pediatr Endocrinol Metab"},{"key":"1140_CR13","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1224154","author":"G Bano","year":"2010","unstructured":"Bano G, Mansour S, Brice G, Ostergaard P, Mortimer PS, Jeffery S, Nussey S (2010) Pit-1 mutation and lipoedema in a family. Exp Clin Endocrinol Diabetes. https:\/\/doi.org\/10.1055\/s-0029-1224154","journal-title":"Exp Clin Endocrinol Diabetes"},{"key":"1140_CR14","doi-asserted-by":"publisher","DOI":"10.1055\/s-0042-117112","author":"S Birla","year":"2016","unstructured":"Birla S, Khadgawat R, Jyotsna VP, Jain V, Garg MK, Bhalla AS, Sharma A (2016) Identification of novel PROP1 and POU1F1 mutations in patients with combined pituitary hormone deficiency. Horm Metab Res. https:\/\/doi.org\/10.1055\/s-0042-117112","journal-title":"Horm Metab Res"},{"key":"1140_CR15","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-0570","author":"JP Turton","year":"2005","unstructured":"Turton JP, Reynaud R, Mehta A, Torpiano J, Saveanu A, Woods KS, Tiulpakov A, Zdravkovic V, Hamilton J, Attard-Montalto S, Parascandalo R, Vella C, Clayton PE, Shalet S, Barton J, Brue T, Dattani MT (2005) Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. J Clin Endocrinol Metab. https:\/\/doi.org\/10.1210\/jc.2005-0570","journal-title":"J Clin Endocrinol Metab"},{"key":"1140_CR16","doi-asserted-by":"publisher","DOI":"10.1515\/jpem.2002.15.3.325","author":"G Gat-Yablonski","year":"2002","unstructured":"Gat-Yablonski G, Lazar L, Pertzelan A, Phillip M (2002) A novel mutation in PIT-1: phenotypic variability in familial combined pituitary hormone deficiencies. J Pediatr Endocrinol Metab. https:\/\/doi.org\/10.1515\/jpem.2002.15.3.325","journal-title":"J Pediatr Endocrinol Metab"},{"key":"1140_CR17","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.83.6.4901","author":"F Pernasetti","year":"1998","unstructured":"Pernasetti F, Milner RD, Al Ashwal AA, de Zegher F, Chavez VM, Muller M, Martial M (1998) Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency. J Clin Endocrinol Metab. https:\/\/doi.org\/10.1210\/jcem.83.6.4901","journal-title":"J Clin Endocrinol Metab"},{"key":"1140_CR18","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv486","author":"ML Sobrier","year":"2016","unstructured":"Sobrier ML, Tsai YC, P\u00e9rez C, Leheup B, Bouceba T, Duquesnoy P, Copin B, Sizova D, Penzo A, Stanger BZ, Cooke NE, Liebhaber SA, Amselem S (2016) Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD. Hum Mol Genet. https:\/\/doi.org\/10.1093\/hmg\/ddv486","journal-title":"Hum Mol Genet"},{"key":"1140_CR19","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2011.04165.x","author":"H Inoue","year":"2012","unstructured":"Inoue H, Mukai T, Sakamoto Y, Kimura C, Kangawa N, Itakura M, Ogata T, Ito Y, Fujieda K (2012) Identification of a novel mutation in the exon 2 splice donor site of the POU1F1\/PIT-1 gene in Japanese identical twins with mild combined pituitary hormone deficiency. Clin Endocrinol. https:\/\/doi.org\/10.1111\/j.1365-2265.2011.04165.x","journal-title":"Clin Endocrinol"},{"key":"1140_CR20","doi-asserted-by":"publisher","DOI":"10.1126\/science.257.5073.1118","author":"RW Pf\u00e4ffle","year":"1992","unstructured":"Pf\u00e4ffle RW, DiMattia GE, Parks JS, Brown MR, Wit JM, Jansen M, Van der Nat H, Van den Brande JL, Rosenfeld MG, Ingraham HA (1992) Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. Science. https:\/\/doi.org\/10.1126\/science.257.5073.1118","journal-title":"Science"},{"key":"1140_CR21","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.81.8.8768831","author":"I Pellegrini-Bouiller","year":"1996","unstructured":"Pellegrini-Bouiller I, B\u00e9licar P, Barlier A, Gunz G, Charvet JP, Jaquet P, Brue T, Vialettes B, Enjalbert A (1996) A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency. J Clin Endocrinol Metab. https:\/\/doi.org\/10.1210\/jcem.81.8.8768831","journal-title":"J Clin Endocrinol Metab"},{"key":"1140_CR22","doi-asserted-by":"publisher","DOI":"10.1016\/s1096-6374(03)00015-7","author":"S Salemi","year":"2003","unstructured":"Salemi S, Besson A, Ebl\u00e9 A, Gallati S, Pf\u00e4ffle RW, Mullis PE (2003) New N-terminal located mutation (Q4ter) within the POU1F1-gene (PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotype. Growth Horm IGF Res. https:\/\/doi.org\/10.1016\/s1096-6374(03)00015-7","journal-title":"Growth Horm IGF Res"},{"issue":"3","key":"1140_CR23","first-page":"515","volume":"120","author":"SC Lin","year":"1994","unstructured":"Lin SC, Li S, Drolet DW, Rosenfeld MG (1994) Pituitary ontogeny of the Snell dwarf mouse reveals Pit-1-independent and Pit-1-dependent origins of the thyrotrope. Development Mar 120(3):515\u2013522","journal-title":"Development Mar"},{"key":"1140_CR24","doi-asserted-by":"publisher","DOI":"10.1007\/s42000-018-0079-4","author":"F Ba\u015f","year":"2018","unstructured":"Ba\u015f F, Abal\u0131 ZY, Toksoy G, Poyrazo\u011flu \u015e, Bundak R, G\u00fcle\u00e7 \u00c7, Uyguner ZO, Darendeliler F (2018) Precocious or early puberty in patients with combined pituitary hormone deficiency due to POU1F1 gene mutation: case report and review of possible mechanisms. Hormones (Athens). https:\/\/doi.org\/10.1007\/s42000-018-0079-4","journal-title":"Hormones (Athens)"},{"key":"1140_CR25","doi-asserted-by":"publisher","DOI":"10.1016\/s0092-8674(00)80770-9","author":"JS Dasen","year":"1999","unstructured":"Dasen JS, O\u2019Connell SM, Flynn SE, Treier M, Gleiberman AS, Szeto DP, Hooshmand F, Aggarwal AK, Rosenfeld MG (1999) Reciprocal interactions of Pit1 and GATA2 mediate signaling gradient-induced determination of pituitary cell types. Cell. https:\/\/doi.org\/10.1016\/s0092-8674(00)80770-9","journal-title":"Cell"},{"key":"1140_CR26","doi-asserted-by":"publisher","DOI":"10.1515\/jpem.1998.11.5.623","author":"IJ Arnhold","year":"1998","unstructured":"Arnhold IJ, Nery M, Brown MR, Voss TC, VanderHeyden TC, Adess ME, Hurley DL, Wajchenberg BL, Parks JS (1998) Clinical and molecular characterization of a Brazilian patient with Pit-1 deficiency. J Pediatr Endocrinol Metab. https:\/\/doi.org\/10.1515\/jpem.1998.11.5.623","journal-title":"J Pediatr Endocrinol Metab"},{"key":"1140_CR27","doi-asserted-by":"publisher","DOI":"10.1159\/000088793","author":"D Taha","year":"2005","unstructured":"Taha D, Mullis PE, Ib\u00e1\u00f1ez L, de Zegher F (2005) Absent or delayed adrenarche in Pit-1\/POU1F1 deficiency. Horm Res. https:\/\/doi.org\/10.1159\/000088793","journal-title":"Horm Res"},{"key":"1140_CR28","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.9.1565","author":"N Okamoto","year":"1994","unstructured":"Okamoto N, Wada Y, Ida S, Koga R, Ozono K, Chiyo H, Hayashi A, Tatsumi K (1994) Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype. Hum Mol Genet. https:\/\/doi.org\/10.1093\/hmg\/3.9.1565","journal-title":"Hum Mol Genet"},{"key":"1140_CR29","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2004.02189.x","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). https:\/\/doi.org\/10.1111\/j.1365-2265.2004.02189.x","journal-title":"Clin Endocrinol (Oxf)"},{"key":"1140_CR30","doi-asserted-by":"publisher","DOI":"10.1159\/000308169","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. https:\/\/doi.org\/10.1159\/000308169","journal-title":"Horm Res Paediatr"},{"key":"1140_CR31","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2012.0332","author":"E Pine-Twaddell","year":"2013","unstructured":"Pine-Twaddell E, Romero CJ, Radovick S (2013) Vertical transmission of hypopituitarism: critical importance of appropriate interpretation of thyroid function tests and levothyroxine therapy during pregnancy. Thyroid. https:\/\/doi.org\/10.1089\/thy.2012.0332","journal-title":"Thyroid"},{"key":"1140_CR32","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(19980605)77:5<360::aid-ajmg4>3.0.co;2-r","author":"OV Fofanova","year":"1998","unstructured":"Fofanova OV, Takamura N, Kinoshita E, Yoshimoto M, Tsuji Y, Peterkova VA, Evgrafov OV, Dedov II, Goncharov NP, Yamashita S (1998) Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency. Am J Med Genet. https:\/\/doi.org\/10.1002\/(sici)1096-8628(19980605)77:5%3c360::aid-ajmg4%3e3.0.co;2-r","journal-title":"Am J Med Genet"},{"key":"1140_CR33","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.EJ16-0361","author":"M Takagi","year":"2017","unstructured":"Takagi M, Kamasaki H, Yagi H, Fukuzawa R, Narumi S, Hasegawa T (2017) A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency. Endocr J. https:\/\/doi.org\/10.1507\/endocrj.EJ16-0361","journal-title":"Endocr J"},{"key":"1140_CR34","doi-asserted-by":"publisher","DOI":"10.1126\/science.257.5073.1115","author":"S Radovick","year":"1992","unstructured":"Radovick S, Nations M, Du Y, Berg LA, Weintraub BD, Wondisford FE (1992) A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency. Science. https:\/\/doi.org\/10.1126\/science.257.5073.1115","journal-title":"Science"},{"key":"1140_CR35","doi-asserted-by":"publisher","DOI":"10.1203\/01.PDR.0000084113.41375.1E","author":"S Malvagia","year":"2003","unstructured":"Malvagia S, Poggi GM, Pasquini E, Donati MA, Pela I, Morrone A, Zammarchi E (2003) The de novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patient. Pediatr Res. https:\/\/doi.org\/10.1203\/01.PDR.0000084113.41375.1E","journal-title":"Pediatr Res"},{"key":"1140_CR36","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291x(92)92281-2","author":"K Ohta","year":"1992","unstructured":"Ohta K, Nobukuni Y, Mitsubuchi H, Fujimoto S, Matsuo N, Inagaki H, Endo F, Matsuda I (1992) Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency. Biochem Biophys Res Commun. https:\/\/doi.org\/10.1016\/0006-291x(92)92281-2","journal-title":"Biochem Biophys Res Commun"},{"key":"1140_CR37","doi-asserted-by":"publisher","DOI":"10.1007\/s11102-017-0850-6","author":"M Elizabeth","year":"2018","unstructured":"Elizabeth M, Hokken-Koelega ACS, Schuilwerve J, Peeters RP, Visser TJ, de Graaff LCG (2018) Genetic screening of regulatory regions of pituitary transcription factors in patients with idiopathic pituitary hormone deficiencies. Pituitary. https:\/\/doi.org\/10.1007\/s11102-017-0850-6","journal-title":"Pituitary"},{"key":"1140_CR38","doi-asserted-by":"publisher","DOI":"10.1210\/mend.13.3.0251","author":"LE Cohen","year":"1999","unstructured":"Cohen LE, Zanger K, Brue T, Wondisford FE, Radovick S (1999) Defective retinoic acid regulation of the Pit-1 gene enhancer: a novel mechanism of combined pituitary hormone deficiency. Mol Endocrinol. https:\/\/doi.org\/10.1210\/mend.13.3.0251","journal-title":"Mol Endocrinol"},{"key":"1140_CR39","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M202991200","author":"M Kishimoto","year":"2002","unstructured":"Kishimoto M, Okimura Y, Yagita K, Iguchi G, Fumoto M, Iida K, Kaji H, Okamura H, Chihara K (2002) Novel function of the transactivation domain of a pituitary-specific transcription factor, Pit-1. J Biol Chem. https:\/\/doi.org\/10.1074\/jbc.M202991200","journal-title":"J Biol Chem"},{"key":"1140_CR40","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.42.351","author":"Y Irie","year":"1995","unstructured":"Irie Y, Tatsumi K, Ogawa M, Kamijo T, Preeyasombat C, Suprasongsin C, Amino N (1995) A novel E250X mutation of the PIT1 gene in a patient with combined pituitary hormone deficiency. Endocr J. https:\/\/doi.org\/10.1507\/endocrj.42.351","journal-title":"Endocr J"},{"key":"1140_CR41","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2011.04236","author":"JP Turton","year":"2012","unstructured":"Turton JP, Strom M, Langham S, Dattani MT, Le Tissier P (2012) Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency. Clin Endocrinol (Oxf). https:\/\/doi.org\/10.1111\/j.1365-2265.2011.04236","journal-title":"Clin Endocrinol (Oxf)"},{"key":"1140_CR42","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2017.34","author":"E Bertko","year":"2017","unstructured":"Bertko E, Klammt J, Dusatkova P, Bahceci M, Gonc N, Ten Have L, Kandemir N, Mansmann G, Obermannova B, Oostdijk W, Pf\u00e4ffle H, Rockstroh-Lippold D, Schlicke M, Tuzcu AK, Pf\u00e4ffle R (2017) Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes. J Hum Genet. https:\/\/doi.org\/10.1038\/jhg.2017.34","journal-title":"J Hum Genet"},{"key":"1140_CR43","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"}],"container-title":["Pituitary"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11102-021-01140-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11102-021-01140-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11102-021-01140-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,3]],"date-time":"2021-09-03T23:53:15Z","timestamp":1630713195000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11102-021-01140-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,20]]},"references-count":43,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021,10]]}},"alternative-id":["1140"],"URL":"https:\/\/doi.org\/10.1007\/s11102-021-01140-9","relation":{},"ISSN":["1386-341X","1573-7403"],"issn-type":[{"value":"1386-341X","type":"print"},{"value":"1573-7403","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,20]]},"assertion":[{"value":"26 February 2021","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 March 2021","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"None.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The study has been approved by the Institutional Ethics Committee II, Seth GS medical college and KEM hospital, Mumbai, India.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Considering retrospective nature of analysis, waiver for consent was obtained from the Ethics committee.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent of Participate"}},{"value":"All the the co-authors have consented for publication of the study results.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}]}}