Series en Endocrinología. Actualizaciones en trastornos del crecimiento

Lecturas recomendadas

  1. Thornton PS, Maniatis AK, Aghajanova E, Chertok E, Vlachopapadopoulou E, Lin Z, Song W, Christoffersen ED, Breinholt VM, Kovalenko T, Giorgadze E, Korpal-Szczyrska M, Hofman PL, Karpf DB, Shu AD, Beckert M. Weekly Lonapegsomatropin in Treatment-Naïve Children With Growth Hormone Deficiency: The Phase 3 heiGHt Trial. J Clin Endocrinol Metab. 2021 Oct 21;106(11):3184-3195. doi: 10.1210/clinem/dgab529. PMID: 34272849; PMCID: PMC8530727.
  2. Lin Z, Shu AD, Bach M, Miller BS, Rogol AD. Average IGF-1 Prediction for Once-Weekly Lonapegsomatropin in Children With Growth Hormone Deficiency. J Endocr Soc. 2021 Nov 8;6(1):bvab168. doi: 10.1210/jendso/bvab168. PMID: 34913019; PMCID: PMC8668201.
  3. Sklar CA, Antal Z, Chemaitilly W, Cohen LE, Follin C, Meacham LR, Murad MH. Hypothalamic-Pituitary and Growth Disorders in Survivors of Childhood Cancer: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2018 Aug 1;103(8):2761-2784. doi: 10.1210/jc.2018-01175. PMID: 29982476.
  4. González Briceño LG, Kariyawasam D, Samara-Boustani D, Giani E, Beltrand J, Bolle S, Fresneau B, Puget S, Sainte-Rose C, Alapetite C, Pinto G, Piketty ML, Brabant S, Abbou S, Aerts I, Beccaria K, Bourgeois M, Roujeau T, Blauwblomme T, Di Rocco F, Thalassinos C, Pauwels C, Rigaud C, James S, Busiah K, Simon A, Bourdeaut F, Lemelle L, Guerrini-Rousseau L, Orbach D, Touraine P, Doz F, Dufour C, Grill J, Polak M. High Prevalence of Early Endocrine Disorders After Childhood Brain Tumors in a Large Cohort. J Clin Endocrinol Metab. 2022 Apr 19;107(5):e2156-e2166. doi: 10.1210/clinem/dgab893. PMID: 34918112.
  5. Zborovski S, Palmert MR, Harrington J. Limited Utility of Biochemical Screening for Pituitary Deficiencies and Adverse Effects in Idiopathic GH Deficiency. J Endocr Soc. 2019 Mar 28;3(5):1022-1030. doi: 10.1210/js.2018-00390. PMID: 31065619; PMCID: PMC6497921.
  6. Decker R, Albertsson-Wikland K, Kriström B, Halldin M, Gustafsson J, Nilsson NÖ, Dahlgren J. GH Dose Reduction Maintains Normal Prepubertal Height Velocity After Initial Catch-Up Growth in Short Children. J Clin Endocrinol Metab. 2019 Mar 1;104(3):835-844. doi: 10.1210/jc.2018-01006. PMID: 30339244.7
  7. Mauras N, Ross J, Mericq V. Management of Growth Disorders in Puberty: GH, GnRHa and Aromatase Inhibitors: A Clinical Review. Endocr Rev. 2022 May 27:bnac014. doi: 10.1210/endrev/bnac014. Epub ahead of print. PMID: 35639981.
  1. Fuke T, Nakamura A, Inoue T, Kawashima S, Hara KI, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M. Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum. J Clin Endocrinol Metab. 2021 Mar 8;106(3):802-813. doi: 10.1210/clinem/dgaa856. PMID: 33236057; PMCID: PMC7947753.
  2. Pfäffle R, Knüpfer M, Göbert M, Vogel M, Gausche R, Beger C, Keller E, Körner A, Thome U, Kiess W. Growth patterns of children with short stature in adulthood according to auxological status and maturity at birth. J Clin Endocrinol Metab. 2022 Sep 13:dgac510. doi: 10.1210/clinem/dgac510. Epub ahead of print. PMID: 36099499.
  3. Upners EN, Raket LL, Petersen JH, Thankamony A, Roche E, Shaikh G, Kirk J, Hoey H, Ivarsson SA, Söder O, Juul A, Jensen RB. Timing of Puberty, Pubertal Growth, and Adult Height in Short Children Born Small for Gestational Age Treated With Growth Hormone. J Clin Endocrinol Metab. 2022 Jul 14;107(8):2286-2295. doi: 10.1210/clinem/dgac282. PMID: 35521800.
  4. Maghnie M, Ranke MB, Geffner ME, Vlachopapadopoulou E, Ibáñez L, Carlsson M, Cutfield W, Rooman R, Gomez R, Wajnrajch MP, Linglart A, Stawerska R, Clayton PE, Darendeliler F, Hokken-Koelega ACS, Horikawa R, Tanaka T, Dörr HG, Albertsson-Wikland K, Polak M, Grimberg A. Safety and efficacy of pediatric growth hormone therapy: Results from the full KIGS cohort. J Clin Endocrinol Metab. 2022 Sep 14:dgac517. doi: 10.1210/clinem/dgac517. Epub ahead of print. PMID: 3610218
  5. Sävendahl L, Polak M, Backeljauw P, Blair JC, Miller BS, Rohrer TR, Hokken-Koelega A, Pietropoli A, Kelepouris N, Ross J. Long-Term Safety of Growth Hormone Treatment in Childhood: Two Large Observational Studies: NordiNet IOS and ANSWER. J Clin Endocrinol Metab. 2021 May 13;106(6):1728-1741. doi: 10.1210/clinem/dgab080. PMID: 33571362; PMCID: PMC8118578.
  6. Boguszewski MCS, Carlsson M, Lindberg A, Dahlgren J, Aydin F, Camacho-Hübner C, Hokken-Koelega ACS. Near-Adult Height After Growth Hormone Treatment in Children Born Prematurely-Data From KIGS. J Clin Endocrinol Metab. 2020 Jul 1;105(7):dgaa203. doi: 10.1210/clinem/dgaa203. PMID: 32479603.
  7. Freire BL, Homma TK, Funari MFA, Lerario AM, Vasques GA, Malaquias AC, Arnhold IJP, Jorge AAL. Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature. J Clin Endocrinol Metab. 2019 Jun 1;104(6):2023-2030. doi: 10.1210/jc.2018-01971. PMID: 3060202
  8. Hara-Isono K, Nakamura A, Fuke T, Inoue T, Kawashima S, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M. Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders. J Clin Endocrinol Metab. 2022 Jul 14;107(8):e3121-e3133. doi: 10.1210/clinem/dgac319. PMID: 35583390.
  1. Li X, Yao R, Chang G, Li Q, Song C, Li N, Ding Y, Li J, Chen Y, Wang Y, Huang X, Shen Y, Zhang H, Wang J, Wang X. Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature. J Clin Endocrinol Metab. 2022 Mar 24;107(4):972-985. doi: 10.1210/clinem/dgab863. PMID: 34850017; PMCID: PMC8947318.
  2. Andrews A, Maharaj A, Cottrell E, Chatterjee S, Shah P, Denvir L, Dumic K, Bossowski A, Mushtaq T, Vukovic R, Didi M, Shaw N, Metherell LA, Savage MO, Storr HL. Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes. J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4716-e4733. doi: 10.1210/clinem/dgab437. PMID: 34136918; PMCID: PMC8530715.
  3. Plachy L, Strakova V, Elblova L, Obermannova B, Kolouskova S, Snajderova M, Zemkova D, Dusatkova P, Sumnik Z, Lebl J, Pruhova S. High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH. J Clin Endocrinol Metab. 2019 Oct 1;104(10):4273-4281. doi: 10.1210/jc.2018-02288. PMID: 30753492.
  4. Göpel E, Rockstroh D, Pfäffle H, Schlicke M, Pozza SB, Gannagé-Yared MH, Gucev Z, Mohn A, Harmel EM, Volkmann J, Weihrauch-Blüher S, Gausche R, Bogatsch H, Beger C, Klammt J, Pfäffle R. A Comprehensive Cohort Analysis Comparing Growth and GH Therapy Response in IGF1R Mutation Carriers and SGA Children. J Clin Endocrinol Metab. 2020 Apr 1;105(4):dgz165. doi: 10.1210/clinem/dgz165. PMID: 31680140.
  5. Ke X, Liang H, Miao H, Yang H, Wang L, Gong F, Pan H, Zhu H. Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation and the Therapeutic Response to rhGH. J Clin Endocrinol Metab. 2021 Jan 23;106(2):431-441. doi: 10.1210/clinem/dgaa842. PMID: 3320521
  6. Muthuvel G, Dauber A, Alexandrou E, Tyzinski L, Andrew M, Hwa V, Backeljauw P. Treatment of Short Stature in Aggrecan-deficient Patients With Recombinant Human Growth Hormone: 1-Year Response. J Clin Endocrinol Metab. 2022 Apr 19;107(5):e2103-e2109. doi: 10.1210/clinem/dgab904. PMID: 34922359; PMCID: PMC943247
  7. Dos Santos WO, Wasinski F, Tavares MR, Campos AMP, Elias CF, List EO, Kopchick JJ, Szawka RE, Donato J. Ablation of Growth Hormone Receptor in GABAergic Neurons Leads to Increased Pulsatile Growth Hormone Secretion. Endocrinology. 2022 Aug 1;163(8):bqac103. doi: 10.1210/endocr/bqac103. PMID: 35803590; PMCID: PMC9302893.
  8. Lin L, Li M, Luo J, Li P, Zhou S, Yang Y, Chen K, Weng Y, Ge X, Mireguli M, Wei H, Yang H, Li G, Sun Y, Cui L, Zhang S, Chen J, Zeng G, Xu L, Luo X, Shen Y. A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children. J Clin Endocrinol Metab. 2021 Jun 16;106(7):e2711-e2719. doi: 10.1210/clinem/dgab08 PMID: 33606014; PMCID: PMC8208663.

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