Retraso puberal

Palmert MR, Dunkel L. Clinical practice. Delayed puberty. N Engl J Med. 2012 Feb 2;366(5):443-53. Resumen

Howard SR, Dunkel L. The genetic basis of delayed puberty. Neuroendocrinology. 2018;106(3):283-91.Texto completo  Resumen

Marshall WA, Tanner JM. Variations in pattern of pubertal changes in girls. Arch Dis Child. 1969 Jun;44(235):291-303.Texto completo  Resumen

Marshall WA, Tanner JM. Variations in the pattern of pubertal changes in boys. Arch Dis Child. 1970 Feb;45(239):13-23.Texto completo  Resumen

1. Palmert MR, Dunkel L. Clinical practice. Delayed puberty. N Engl J Med. 2012 Feb 2;366(5):443-53. Resumen

2. Timmreck LS, Reindollar RH. Contemporary issues in primary amenorrhea. Obstet Gynecol Clin North Am. 2003 Jun;30(2):287-302. Resumen

3. Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet. 1991 May;87(1):81-3. Resumen

4. Jacobs PA, Melville M, Ratcliffe S, et al. A cytogenetic survey of 11,680 newborn infants. Ann Hum Genet. 1974 May;37(4):359-76. Resumen

5. Laitinen EM, Vaaralahti K, Tommiska J, et al. Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland. Orphanet J Rare Dis. 2011 Jun 17;6:41.Texto completo  Resumen

6. Delemarre-van de Waal HA. Secular trend of timing of puberty. Endocr Dev. 2005;8:1-14. Resumen

7. Tanner JM. Trend towards earlier menarche in London, Oslo, Copenhagen, the Netherlands and Hungary. Nature. 1973 May 11;243(5402):95-6. Resumen

8. Biro FM, Khoury P, Morrison JA. Influence of obesity on timing of puberty. Int J Androl. 2006 Feb;29(1):272-7. Resumen

9. Aksglaede L, Sørensen K, Petersen JH, et al. Recent decline in age at breast development: the Copenhagen Puberty Study. Pediatrics. 2009 May;123(5):e932-9. Resumen

10. de la Puente ML, Canela J, Alvarez J, et al. Cross-sectional growth study of the child and adolescent population of Catalonia (Spain). Ann Hum Biol. 1997 Sep-Oct;24(5):435-52. Resumen

11. Mul D, Fredriks AM, van Buuren S, et al. Pubertal development in The Netherlands 1965-1997. Pediatr Res. 2001 Oct;50(4):479-86. Resumen

12. Wu T, Mendola P, Buck GM. Ethnic differences in the presence of secondary sex characteristics and menarche among US girls: the Third National Health and Nutrition Examination Survey, 1988-1994. Pediatrics. 2002 Oct;110(4):752-7. Resumen

13. Himes JH. Examining the evidence for recent secular changes in the timing of puberty in US children in light of increases in the prevalence of obesity. Mol Cell Endocrinol. 2006 Jul 25;(254-55):13-21. Resumen

14. Ogden CL, Carroll MD, Flegal KM. High body mass index for age among US children and adolescents, 2003-2006. JAMA. 2008 May 28;299(20):2401-5.Texto completo  Resumen

15. Osler DC, Crawford JD. Examination of the hypothesis of a critical weight at menarche in ambulatory and bedridden mentally retarded girls. Pediatrics. 1973 Apr;51(4):675-9. Resumen

16. Day FR, Bulik-Sullivan B, Hinds DA, et al. Shared genetic aetiology of puberty timing between sexes and with health-related outcomes. Nat Commun. 2015 Nov 9;6:8842.Texto completo  Resumen

17. Sedlmeyer IL, Palmert MR. Delayed puberty: analysis of a large case series from an academic center. J Clin Endocrinol Metab. 2002 Apr;87(4):1613-20.Texto completo  Resumen

18. Varimo T, Miettinen PJ, Känsäkoski J, et al. Congenital hypogonadotropic hypogonadism, functional hypogonadotropism or constitutional delay of growth and puberty? An analysis of a large patient series from a single tertiary center. Hum Reprod. 2017 Jan;32(1):147-53.Texto completo  Resumen

19. Howard SR, Dunkel L. The genetic basis of delayed puberty. Neuroendocrinology. 2018;106(3):283-91.Texto completo  Resumen

20. Wehkalampi K, Widén E, Laine T, et al. Patterns of inheritance of constitutional delay of growth and puberty in families of adolescent girls and boys referred to specialist pediatric care. J Clin Endocrinol Metab. 2008 Mar;93(3):723-8.Texto completo  Resumen

21. Rugarli EI, Ballabio A. Kallmann syndrome: from genetics to neurobiology. JAMA. 1993 Dec 8;270(22):2713-6. Resumen

22. Dattani MT, Robinson IC. The molecular basis for developmental disorders of the pituitary gland in man. Clin Genet. 2000 May;57(5):337-46. Resumen

23. Reutens AT, Achermann JC, Ito M, et al. Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. J Clin Endocrinol Metab. 1999 Feb;84(2):504-11.Texto completo  Resumen

24. Mehta A, Dattani M. Congenital disorders of the hypothalamic-pituitary axis. In: Brook CG, Clayton PE, Brown RS, eds. Clinical pediatric endocrinology. 5th ed. Hoboken, NJ: Wiley-Blackwell; 2005:67-89.

25. Scarzello G, Buzzaccarini MS, Perilongo G, et al. Acute and late morbidity after limited resection and focal radiation therapy in craniopharyngiomas. J Pediatr Endocrinol Metab. 2006 Apr;19(suppl 1):399-405. Resumen

26. Oerter KE, Kamp GA, Munson PJ, et al. Multiple hormone deficiencies in children with hemochromatosis. J Clin Endocrinol Metab. 1993 Feb;76(2):357-61. Resumen

27. Smyth CM, Bremner WJ. Klinefelter syndrome. Arch Intern Med. 1998 Jun 22;158(12):1309-14.Texto completo  Resumen

28. Toniolo D. X-linked premature ovarian failure: a complex disease. Curr Opin Genet Dev. 2006 Jun;16(3):293-300. Resumen

29. Hoek A, Schoemaker J, Drexhage HA. Premature ovarian failure and ovarian autoimmunity. Endocr Rev. 1997 Feb;18(1):107-34.Texto completo  Resumen

30. Bakker B, Massa GG, Oostdijk W, et al. Pubertal development and growth after total-body irradiation and bone marrow transplantation for haematological malignancies. Eur J Pediatr. 2000 Jan-Feb;159(1-2):31-7. Resumen

31. Ojeda SR, Lomniczi A, Mastronardi C, et al. Minireview: the neuroendocrine regulation of puberty: is the time ripe for a systems biology approach? Endocrinology. 2006 Mar;147(3):1166-74.Texto completo  Resumen

32. Jonsdottir-Lewis E, Feld A, Ciarlo R, et al. Timing of pubertal onset in girls and boys with constitutional delay. J Clin Endocrinol Metab. 2021 Aug 18;106(9):e3693-3703.Texto completo  Resumen

33. Martha PM Jr, Rogol AD, Veldhuis JD, et al. Alterations in the pulsatile properties of circulating growth hormone concentrations during puberty in boys. J Clin Endocrinol Metab. 1989 Sep;69(3):563-70. Resumen

34. Veldhuis JD, Metzger DL, Martha PM Jr, et al. Estrogen and testosterone, but not a nonaromatizable androgen, direct network integration of the hypothalamo-somatotrope (growth hormone)-insulin-like growth factor I axis in the human: evidence from pubertal pathophysiology and sex-steroid hormone replacement. J Clin Endocrinol Metab. 1997 Oct;82(10):3414-20.Texto completo  Resumen

35. Krone N, Arlt W. Genetics of congenital adrenal hyperplasia. Best Pract Res Clin Endocrinol Metab. 2009 Apr;23(2):181-92.Texto completo  Resumen

36. Kiserud CE, Fosså A, Bjøro T, et al. Gonadal function in male patients after treatment for malignant lymphomas, with emphasis on chemotherapy. Br J Cancer. 2009 Feb 10;100(3):455-63.Texto completo  Resumen

37. Howard SR, Dunkel L. Delayed puberty-phenotypic diversity, molecular genetic mechanisms, and recent discoveries. Endocr Rev. 2019 Oct 1;40(5):1285-317.Texto completo  Resumen

38. Marshall WA, Tanner JM. Variations in pattern of pubertal changes in girls. Arch Dis Child. 1969 Jun;44(235):291-303.Texto completo  Resumen

39. Marshall WA, Tanner JM. Variations in the pattern of pubertal changes in boys. Arch Dis Child. 1970 Feb;45(239):13-23.Texto completo  Resumen

40. Simpson JL, Rajkovic A. Ovarian differentiation and gonadal failure. Am J Med Genet. 1999 Dec 29;89(4):186-200. Resumen

41. Gravholt CH, Andersen NH, Conway GS, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017 Sep;177(3):G1-70.Texto completo  Resumen

42. Bayley N, Pinneau SR. Tables for predicting adult height from skeletal age: revised for use with the Greulich-Pyle hand standards. J Pediatr. 1952 Apr;40(4):423-41. Resumen

43. Howard SR. Interpretation of reproductive hormones before, during and after the pubertal transition-Identifying health and disordered puberty. Clin Endocrinol (Oxf). 2021 Nov;95(5):702-15.Texto completo  Resumen

44. Nathwani NC, Hindmarsh PC, Massarano AA, et al. Gonadotrophin pulsatility in girls with the Turner syndrome: modulation by exogenous sex steroids. Clin Endocrinol (Oxf). 1998 Jul;49(1):107-13. Resumen

45. Segal TY, Mehta A, Anazodo A, et al. Role of gonadotropin-releasing hormone and human chorionic gonadotropin stimulation tests in differentiating patients with hypogonadotropic hypogonadism from those with constitutional delay of growth and puberty. J Clin Endocrinol Metab. 2009 Mar;94(3):780-5.Texto completo  Resumen

46. Coutant R, Biette-Demeneix E, Bouvattier C, et al. Baseline inhibin B and anti-Mullerian hormone measurements for diagnosis of hypogonadotropic hypogonadism (HH) in boys with delayed puberty. J Clin Endocrinol Metab. 2010 Dec;95(12):5225-32.Texto completo  Resumen

47. Johannsen TH, Andersson AM, Ahmed SF, et al. Peptide hormone analysis in diagnosis and treatment of Differences of Sex Development: joint position paper of EU COST Action 'DSDnet' and European Reference Network on Rare Endocrine Conditions. Eur J Endocrinol. 2020 Jun;182(6):P1-15. Resumen

48. Nordenström A, Ahmed SF, van den Akker E, et al. Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline. Eur J Endocrinol. 2022 Apr 21;186(6):G9-49.Texto completo  Resumen

49. Al Sayed Y, Howard SR. Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism - a clinical perspective. Eur J Hum Genet. 2022 Dec 15 [epub ahead of print].Texto completo  Resumen

50. Mehta A, Hindmarsh PC, Mehta H, et al. Congenital hypopituitarism: clinical, molecular and neuroradiological correlates. Clin Endocrinol (Oxf). 2009 Sep;71(3):376-82. Resumen

51. Abbara A, Eng PC, Phylactou M, et al. Kisspeptin-54 accurately identifies hypothalamic gonadotropin-releasing hormone neuronal dysfunction in men with congenital hypogonadotropic hypogonadism. Neuroendocrinology. 2021;111(12):1176-86.Texto completo  Resumen

52. Chan YM, Lippincott MF, Sales Barroso P, et al. Using kisspeptin to predict pubertal outcomes for youth with pubertal delay. J Clin Endocrinol Metab. 2020 Aug 1;105(8):e2717-25.Texto completo  Resumen

53. Raivio T, Falardeau J, Dwyer A, et al. Reversal of idiopathic hypogonadotropic hypogonadism. N Engl J Med. 2007 Aug 30;357(9):863-73.Texto completo  Resumen

54. Zitzmann M, Aksglaede L, Corona G, et al. European Academy of Andrology guidelines on Klinefelter syndrome: Endorsing organization: European Society of Endocrinology. Andrology. 2021 Jan;9(1):145-67.Texto completo  Resumen

55. Rohayem J, Hauffa BP, Zacharin M, et al. Testicular growth and spermatogenesis: new goals for pubertal hormone replacement in boys with hypogonadotropic hypogonadism? -a multicentre prospective study of hCG/rFSH treatment outcomes during adolescence. Clin Endocrinol (Oxf). 2017 Jan;86(1):75-87. Resumen

56. Dunkel L, Prasad R, Senniappan S, et al. Protocol for induction of puberty with gonadotropins in adolescent males with GnRH or gonadotropin deficiency​ pubertal induction with gonadotropins. Version 1.6. September 2021 [internet publication].Texto completo

57. Ankarberg-Lindgren C, Elfving M, Wikland KA, et al. Nocturnal application of transdermal estradiol patches produces levels of estradiol that mimic those seen at the onset of spontaneous puberty in girls. J Clin Endocrinol Metab. 2001 Jul;86(7):3039-44.Texto completo  Resumen

58. Mohamed S, Alkofide H, Adi YA, et al. Oxandrolone for growth hormone-treated girls aged up to 18 years with Turner syndrome. Cochrane Database Syst Rev. 2019 Oct 30;2019(10):CD010736.Texto completo  Resumen

59. Hero M, Varimo T, Raivio T. Aromatase inhibitors in puberty. Curr Opin Endocr Metab Res. 2020 Oct;14:37-41.Texto completo

60. Varimo T, Huopio H, Kariola L, et al. Letrozole versus testosterone for promotion of endogenous puberty in boys with constitutional delay of growth and puberty: a randomised controlled phase 3 trial. Lancet Child Adolesc Health. 2019 Feb;3(2):109-120. Resumen

61. Mauras N, Gonzalez de Pijem L, Hsiang HY, et al. Anastrozole increases predicted adult height of short adolescent males treated with growth hormone: a randomized, placebo-controlled, multicenter trial for one to three years. J Clin Endocrinol Metab. 2008 Mar;93(3):823-31.Texto completo  Resumen

62. Mauras N, Ross JL, Gagliardi P, et al. Randomized trial of aromatase inhibitors, growth hormone, or combination in pubertal boys with idiopathic, short stature. J Clin Endocrinol Metab. 2016 Dec;101(12):4984-93.Texto completo  Resumen