Genetische und epigenetische Einflüsse auf den Pubertätsverlauf in Bezug auf Pubertas praecox vera und Pubertas tarda

Zurück zum Zitat Abreu AP, Dauber A, Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P, Thompson IR, Navarro VM, Gagliardi PC, Rodrigues T, Kochi C, Longui CA, Beckers D, de Zegher F, Montenegro LR, Mendonca BB, Carroll RS, Hirschhorn JN, Latronico AC, Kaiser UB (2013) Central precocious puberty caused by mutations in the imprinted gene MKRN3. N Engl J Med 368:2467–2475CrossRef Abreu AP, Dauber A, Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P, Thompson IR, Navarro VM, Gagliardi PC, Rodrigues T, Kochi C, Longui CA, Beckers D, de Zegher F, Montenegro LR, Mendonca BB, Carroll RS, Hirschhorn JN, Latronico AC, Kaiser UB (2013) Central precocious puberty caused by mutations in the imprinted gene MKRN3. N Engl J Med 368:2467–2475CrossRef

Zurück zum Zitat Bar-Sadeh B, Rudnizky S, Pnueli L, Bentley GR, Stoger R, Kaplan A, Melamed P (2020) Unravelling the role of epigenetics in reproductive adaptations to early-life environment. Nat Rev Endocrinol 16:519–533CrossRef Bar-Sadeh B, Rudnizky S, Pnueli L, Bentley GR, Stoger R, Kaplan A, Melamed P (2020) Unravelling the role of epigenetics in reproductive adaptations to early-life environment. Nat Rev Endocrinol 16:519–533CrossRef

Zurück zum Zitat Bianco SD, Vandepas L, Correa-Medina M, Gereben B, Mukherjee A, Kuohung W, Carroll R, Teles MG, Latronico AC, Kaiser UB (2011) KISS1R intracellular trafficking and degradation: effect of the Arg386Pro disease-associated mutation. Endocrinology 152:1616–1626CrossRef Bianco SD, Vandepas L, Correa-Medina M, Gereben B, Mukherjee A, Kuohung W, Carroll R, Teles MG, Latronico AC, Kaiser UB (2011) KISS1R intracellular trafficking and degradation: effect of the Arg386Pro disease-associated mutation. Endocrinology 152:1616–1626CrossRef

Zurück zum Zitat Boehm U, Bouloux PM, Dattani MT, de Roux N, Dode C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J (2015) Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment. Nat Rev Endocrinol 11:547–564CrossRef Boehm U, Bouloux PM, Dattani MT, de Roux N, Dode C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J (2015) Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment. Nat Rev Endocrinol 11:547–564CrossRef

Zurück zum Zitat Bouvattier C, Maione L, Bouligand J, Dode C, Guiochon-Mantel A, Young J (2012) Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism. Nat Rev Endocrinol 8:172–182CrossRef Bouvattier C, Maione L, Bouligand J, Dode C, Guiochon-Mantel A, Young J (2012) Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism. Nat Rev Endocrinol 8:172–182CrossRef

Zurück zum Zitat Busch AS, Hagen CP, Almstrup K, Juul A (2016) Circulating MKRN3 levels decline during puberty in healthy boys. J Clin Endocrinol Metab 101(6):2588–2593. https://doi.org/10.1210/jc.2016-1488CrossRef Busch AS, Hagen CP, Almstrup K, Juul A (2016) Circulating MKRN3 levels decline during puberty in healthy boys. J Clin Endocrinol Metab 101(6):2588–2593. https://​doi.​org/​10.​1210/​jc.​2016-1488CrossRef

Zurück zum Zitat Cangiano B, Swee DS, Quinton R, Bonomi M (2021) Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease. Hum Genet 140:77–111CrossRef Cangiano B, Swee DS, Quinton R, Bonomi M (2021) Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease. Hum Genet 140:77–111CrossRef

Zurück zum Zitat Canton APM, Seraphim CE, Brito VN, Latronico AC (2019) Pioneering studies on monogenic central precocious puberty. Arch Endocrinol Metab 63:438–444CrossRef Canton APM, Seraphim CE, Brito VN, Latronico AC (2019) Pioneering studies on monogenic central precocious puberty. Arch Endocrinol Metab 63:438–444CrossRef

Zurück zum Zitat Dauber A, Cunha-Silva M, Macedo DB, Brito VN, Abreu AP, Roberts SA, Montenegro LR, Andrew M, Kirby A, Weirauch MT, Labilloy G, Bessa DS, Carroll RS, Jacobs DC, Chappell PE, Mendonca BB, Haig D, Kaiser UB, Latronico AC (2017) Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty. J Clin Endocrinol Metab 102:1557–1567CrossRef Dauber A, Cunha-Silva M, Macedo DB, Brito VN, Abreu AP, Roberts SA, Montenegro LR, Andrew M, Kirby A, Weirauch MT, Labilloy G, Bessa DS, Carroll RS, Jacobs DC, Chappell PE, Mendonca BB, Haig D, Kaiser UB, Latronico AC (2017) Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty. J Clin Endocrinol Metab 102:1557–1567CrossRef

Zurück zum Zitat Eckert-Lind C, Busch AS, Petersen JH, Biro FM, Butler G, Brauner EV, Juul A (2020) Worldwide secular trends in age at pubertal onset assessed by breast development among girls: a systematic review and meta-analysis. JAMA Pediatr 174:e195881CrossRef Eckert-Lind C, Busch AS, Petersen JH, Biro FM, Butler G, Brauner EV, Juul A (2020) Worldwide secular trends in age at pubertal onset assessed by breast development among girls: a systematic review and meta-analysis. JAMA Pediatr 174:e195881CrossRef

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Zurück zum Zitat Gomes LG, Cunha-Silva M, Crespo RP, Ramos CO, Montenegro LR, Canton A, Lees M, Spoudeas H, Dauber A, Macedo DB, Bessa DS, Maciel GA, Baracat EC, Jorge AAL, Mendonca BB, Brito VN, Latronico AC (2019) DLK1 is a novel link between reproduction and metabolism. J Clin Endocrinol Metab 104:2112–2120CrossRef Gomes LG, Cunha-Silva M, Crespo RP, Ramos CO, Montenegro LR, Canton A, Lees M, Spoudeas H, Dauber A, Macedo DB, Bessa DS, Maciel GA, Baracat EC, Jorge AAL, Mendonca BB, Brito VN, Latronico AC (2019) DLK1 is a novel link between reproduction and metabolism. J Clin Endocrinol Metab 104:2112–2120CrossRef

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Zurück zum Zitat Montenegro L, Labarta JI, Piovesan M, Canton APM, Corripio R, Soriano-Guillen L, Travieso-Suarez L, Martin-Rivada A, Barrios V, Seraphim CE, Brito VN, Latronico AC, Argente J (2020) Novel genetic and biochemical findings of DLK1 in children with central precocious puberty: a Brazilian-Spanish study. J Clin Endocrinol Metab 105(10):3165–3172. https://doi.org/10.1210/clinem/dgaa461 Montenegro L, Labarta JI, Piovesan M, Canton APM, Corripio R, Soriano-Guillen L, Travieso-Suarez L, Martin-Rivada A, Barrios V, Seraphim CE, Brito VN, Latronico AC, Argente J (2020) Novel genetic and biochemical findings of DLK1 in children with central precocious puberty: a Brazilian-Spanish study. J Clin Endocrinol Metab 105(10):3165–3172. https://​doi.​org/​10.​1210/​clinem/​dgaa461

Zurück zum Zitat Ojeda SR, Lomniczi A, Mastronardi C, Heger S, Roth C, Parent AS, Matagne V, Mungenast AE (2006) Minireview: the neuroendocrine regulation of puberty: Is the time ripe for a systems biology approach? Endocrinology 147:1166–1174CrossRef Ojeda SR, Lomniczi A, Mastronardi C, Heger S, Roth C, Parent AS, Matagne V, Mungenast AE (2006) Minireview: the neuroendocrine regulation of puberty: Is the time ripe for a systems biology approach? Endocrinology 147:1166–1174CrossRef

Zurück zum Zitat Prodam F, Caputo M, Mele C, Marzullo P, Aimaretti G (2021) Insights into non-classic and emerging causes of hypopituitarism. Nat Rev Endocrinol 17:114–129CrossRef Prodam F, Caputo M, Mele C, Marzullo P, Aimaretti G (2021) Insights into non-classic and emerging causes of hypopituitarism. Nat Rev Endocrinol 17:114–129CrossRef

Zurück zum Zitat Schreiner F, Gohlke B, Hamm M, Korsch E, Woelfle J (2014) MKRN3 mutations in familial central precocious puberty. Horm Res Paediatr 82:122–126CrossRef Schreiner F, Gohlke B, Hamm M, Korsch E, Woelfle J (2014) MKRN3 mutations in familial central precocious puberty. Horm Res Paediatr 82:122–126CrossRef

Zurück zum Zitat Seraphim CE, Canton APM, Montenegro L, Piovesan MR, Macedo DB, Cunha M, Guimaraes A, Ramos CO, Benedetti AFF, de Castro LA, Gagliardi PC, Antonini SR, Gryngarten M, Arcari AJ, Abreu AP, Kaiser UB, Soriano-Guillen L, Escribano-Munoz A, Corripio R, Labarta JI, Travieso-Suarez L, Ortiz-Cabrera NV, Argente J, Mendonca BB, Brito VN, Latronico AC (2021) Genotype-phenotype correlations in central precocious puberty caused by MKRN3 mutations. J Clin Endocrinol Metab 106:1041–1050CrossRef Seraphim CE, Canton APM, Montenegro L, Piovesan MR, Macedo DB, Cunha M, Guimaraes A, Ramos CO, Benedetti AFF, de Castro LA, Gagliardi PC, Antonini SR, Gryngarten M, Arcari AJ, Abreu AP, Kaiser UB, Soriano-Guillen L, Escribano-Munoz A, Corripio R, Labarta JI, Travieso-Suarez L, Ortiz-Cabrera NV, Argente J, Mendonca BB, Brito VN, Latronico AC (2021) Genotype-phenotype correlations in central precocious puberty caused by MKRN3 mutations. J Clin Endocrinol Metab 106:1041–1050CrossRef

Zurück zum Zitat Silveira LG, Noel SD, Silveira-Neto AP, Abreu AP, Brito VN, Santos MG, Bianco SD, Kuohung W, Xu S, Gryngarten M, Escobar ME, Arnhold IJ, Mendonca BB, Kaiser UB, Latronico AC (2010) Mutations of the KISS1 gene in disorders of puberty. J Clin Endocrinol Metab 95:2276–2280CrossRef Silveira LG, Noel SD, Silveira-Neto AP, Abreu AP, Brito VN, Santos MG, Bianco SD, Kuohung W, Xu S, Gryngarten M, Escobar ME, Arnhold IJ, Mendonca BB, Kaiser UB, Latronico AC (2010) Mutations of the KISS1 gene in disorders of puberty. J Clin Endocrinol Metab 95:2276–2280CrossRef

Zurück zum Zitat Teles MG, Bianco SD, Brito VN, Trarbach EB, Kuohung W, Xu S, Seminara SB, Mendonca BB, Kaiser UB, Latronico AC (2008) A GPR54-activating mutation in a patient with central precocious puberty. N Engl J Med 358:709–715CrossRef Teles MG, Bianco SD, Brito VN, Trarbach EB, Kuohung W, Xu S, Seminara SB, Mendonca BB, Kaiser UB, Latronico AC (2008) A GPR54-activating mutation in a patient with central precocious puberty. N Engl J Med 358:709–715CrossRef

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Zurück zum Zitat Valadares LP, Meireles CG, De Toledo IP, de Santarem OR, Goncalves de Castro LC, Abreu AP, Carroll RS, Latronico AC, Kaiser UB, Guerra ENS, Lofrano-Porto A (2019) MKRN3 mutations in central precocious puberty: a systematic review and meta-analysis. J Endocr Soc 3:979–995CrossRef Valadares LP, Meireles CG, De Toledo IP, de Santarem OR, Goncalves de Castro LC, Abreu AP, Carroll RS, Latronico AC, Kaiser UB, Guerra ENS, Lofrano-Porto A (2019) MKRN3 mutations in central precocious puberty: a systematic review and meta-analysis. J Endocr Soc 3:979–995CrossRef

Zurück zum Zitat Varimo T, Iivonen AP, Kansakoski J, Wehkalampi K, Hero M, Vaaralahti K, Miettinen PJ, Niedziela M, Raivio T (2021) Familial central precocious puberty: two novel MKRN3 mutations. Pediatr Res 90:431–435CrossRef Varimo T, Iivonen AP, Kansakoski J, Wehkalampi K, Hero M, Vaaralahti K, Miettinen PJ, Niedziela M, Raivio T (2021) Familial central precocious puberty: two novel MKRN3 mutations. Pediatr Res 90:431–435CrossRef

Zurück zum Zitat Vazquez MJ, Toro CA, Castellano JM, Ruiz-Pino F, Roa J, Beiroa D, Heras V, Velasco I, Dieguez C, Pinilla L, Gaytan F, Nogueiras R, Bosch MA, Ronnekleiv OK, Lomniczi A, Ojeda SR, Tena-Sempere M (2018) SIRT1 mediates obesity- and nutrient-dependent perturbation of pubertal timing by epigenetically controlling Kiss1 expression. Nat Commun 9:4194CrossRef Vazquez MJ, Toro CA, Castellano JM, Ruiz-Pino F, Roa J, Beiroa D, Heras V, Velasco I, Dieguez C, Pinilla L, Gaytan F, Nogueiras R, Bosch MA, Ronnekleiv OK, Lomniczi A, Ojeda SR, Tena-Sempere M (2018) SIRT1 mediates obesity- and nutrient-dependent perturbation of pubertal timing by epigenetically controlling Kiss1 expression. Nat Commun 9:4194CrossRef