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Disorders of Puberty

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Pediatric Endocrinology

Abstract

Puberty should not be considered as a single event but rather as one part of the continuum of reproductive function process in which the hypothalamic-pituitary-gonadal axis begins to develop during fetal life, which continues through the infantile stage to maturity and ends in senescence. Between 50 and 80% of pubertal timing is determined by genetic factors, but environmental factors can exert a powerful influence to alter this process. The increasing prevalence of obesity has been one factor postulated to decrease the age of pubertal development and menarche in recent years. Abnormalities in the age of onset of puberty can be due to disparate factors including individual variation, mutations in genes controlling the hypothalamic-pituitary-gonadal axis, or the presence of a CNS neoplasm. Early onset as well as delay of the onset of puberty must be taken seriously by the provider as it might indicate a serious pathologic process.

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Further Reading

  • Abbott A, Bird ML, Wild E, Brown SM, Stewart G, Mulcahey MK. Part I: epidemiology and risk factors for stress fractures in female athletes. Phys Sportsmed. 2020;48(1):17–24.

    Article  PubMed  Google Scholar 

  • Abreu AP, Dauber A, Macedo DB, et al. Central precocious puberty caused by mutations in the imprinted gene MKRN3. N Engl J Med. 2013;368(26):2467–75.

    Article  CAS  PubMed  Google Scholar 

  • Ahmed SF, Keir L, McNeilly J, Galloway P, O’Toole S, Wallace AM. The concordance between serum anti-Mullerian hormone and testosterone concentrations depends on duration of hCG stimulation in boys undergoing investigation of gonadal function. Clin Endocrinol. 2010;72(6):814–9.

    Article  CAS  Google Scholar 

  • Anne Finlayson C, Styne DM, Larry Jameson J. Chapter 120—Endocrinology of sexual maturation and puberty∗. In: Jameson JL, De Groot LJ, de Kretser DM, et al., editors. Endocrinology: adult and pediatric. 7th ed. Philadelphia: W.B. Saunders; 2016. p. 2119–29.e2112.

    Chapter  Google Scholar 

  • Arshad MA, Majzoub A, Esteves SC. Predictors of surgical sperm retrieval in non-obstructive azoospermia: summary of current literature. Int Urol Nephrol. 2020;52(11):2015–38.

    Article  PubMed  Google Scholar 

  • Backeljauw P, Chernausek SD, Gravholt CH, Kruszka P. 17—Turner syndrome. In: Sperling MA, editor. Sperling pediatric endocrinology. 5th ed. Philadelphia: Elsevier; 2021. p. 627–60.

    Chapter  Google Scholar 

  • Barroso A, Roa J, Tena-Sempere M. Neuropeptide control of puberty: beyond kisspeptins. Semin Reprod Med. 2019;37(4):155–65.

    Article  CAS  PubMed  Google Scholar 

  • Biro FM, Greenspan LC, Galvez MP. Puberty in girls of the twenty-first century. J Pediatr Adolesc Gynecol. 2012;25(5):289–94.

    Article  PubMed  PubMed Central  Google Scholar 

  • Biro FM, Huang B, Chandler DW, Fassler CL, Pinney SM. Impact of pubertal maturation and chronologic age on sex steroids in peripubertal girls. J Clin Endocrinol Metab. 2019;104(7):2971–7.

    Article  PubMed  PubMed Central  Google Scholar 

  • Bondy CA. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007;92(1):10–25.

    Article  CAS  PubMed  Google Scholar 

  • Carel JC, Eugster EA, Rogol A, et al. Consensus statement on the use of gonadotropin-releasing hormone analogs in children. Pediatrics. 2009;123(4):e752–62.

    Article  PubMed  Google Scholar 

  • DiVall SA, Rosenfield RL. Menstrual disorders and hyperandrogenism in adolescence. In: Radovick S, Misra M, editors. Pediatric endocrinology: a practical clinical guide. Cham: Springer International Publishing; 2018. p. 641–67.

    Chapter  Google Scholar 

  • Eckert-Lind C, Busch AS, Petersen JH, et al. Worldwide secular trends in age at pubertal onset assessed by breast development among girls: a systematic review and meta-analysis. JAMA Pediatr. 2020;174(4):e195881.

    Article  PubMed  PubMed Central  Google Scholar 

  • Fanis P, Skordis N, Toumba M, et al. Central precocious puberty caused by novel mutations in the promoter and 5’-UTR region of the imprinted MKRN3 gene. Front Endocrinol (Lausanne). 2019;10:677.

    Article  PubMed  Google Scholar 

  • Fink DA, Nelson LM, Pyeritz R, et al. Fragile X Associated Primary Ovarian Insufficiency (FXPOI): case report and literature review. Front Genet. 2018;9:529.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Finlayson C. Pubertal suppression in transgender youth. Philadelphia: Elsevier; 2018.

    Google Scholar 

  • Gore AC, Chappell VA, Fenton SE, et al. EDC-2: the endocrine society’s second scientific statement on endocrine-disrupting chemicals. Endocr Rev. 2015a;36(6):E1–E150.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Gore AC, Chappell VA, Fenton SE, et al. Executive summary to EDC-2: the endocrine society’s second scientific statement on endocrine-disrupting chemicals. Endocr Rev. 2015b;36(6):593–602.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Hannah-Shmouni F, Stratakis CA. An update on the genetics of benign pituitary adenomas in children and adolescents. Curr Opin Endocr Metab Res. 2018;1:19–24.

    Article  PubMed  PubMed Central  Google Scholar 

  • Hansen AB, Wojdemann D, Renault CH, et al. DIAGNOSIS OF ENDOCRINE DISEASE: sex steroid action in adolescence: too much, too little; too early, too late. Eur J Endocrinol. 2021;184(1):R17–28.

    Article  CAS  PubMed  Google Scholar 

  • Henrichs KL, McCauley HL, Miller E, Styne DM, Saito N, Breslau J. Early menarche and childhood adversities in a nationally representative sample. Int J Pediatr Endocrinol. 2014;2014(1):14.

    Article  PubMed  PubMed Central  Google Scholar 

  • Howard SR. The genetic basis of delayed puberty. Front Endocrinol (Lausanne). 2019;10:423.

    Article  PubMed  PubMed Central  Google Scholar 

  • Ibanez L, de Zegher F. Polycystic ovary syndrome in adolescent girls. Pediatr Obes. 2020;15(2):e12586.

    Article  PubMed  Google Scholar 

  • Ibáñez L, Oberfield SE, Witchel S, et al. An international consortium update: pathophysiology, diagnosis, and treatment of polycystic ovarian syndrome in adolescence. Horm Res Paediatr. 2017;88(6):371–95.

    Article  PubMed  Google Scholar 

  • Jayasuriya S, Peate M, Allingham C, et al. Satisfaction, disappointment and regret surrounding fertility preservation decisions in the paediatric and adolescent cancer population. J Assist Reprod Genet. 2019;36(9):1805–22.

    Article  PubMed  PubMed Central  Google Scholar 

  • Kim HH, Holmquist S. Contraception. In: Radovick S, Misra M, editors. Pediatric endocrinology: a practical clinical guide. Cham: Springer International Publishing; 2018. p. 669–97.

    Chapter  Google Scholar 

  • Lee JM, Wasserman R, Kaciroti N, et al. Timing of puberty in overweight versus obese boys. Pediatrics. 2016;137(2):e20150164.

    Article  PubMed  Google Scholar 

  • Legro RS, Arslanian SA, Ehrmann DA, et al. Diagnosis and treatment of polycystic ovary syndrome: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2013;98(12):4565–92.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Loomba-Albrecht LA, Styne DM. Effect of puberty on body composition. Curr Opin Endocrinol Diabetes Obes. 2009;16(1):10–5.

    Article  CAS  PubMed  Google Scholar 

  • Martin KA, Anderson RR, Chang RJ, et al. Evaluation and treatment of hirsutism in premenopausal women: an endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2018;103(4):1233–57.

    Article  PubMed  Google Scholar 

  • Mauras N. Strategies for maximizing growth in puberty in children with short stature. Pediatr Clin N Am. 2011;58(5):1167–79. x

    Article  Google Scholar 

  • Misra M, Radovick S. Precocious puberty. In: Radovick S, Misra M, editors. Pediatric endocrinology: a practical clinical guide. Cham: Springer International Publishing; 2018. p. 589–615.

    Chapter  Google Scholar 

  • Mitchell JE, Peterson CB. Anorexia nervosa. N Engl J Med. 2020;382(14):1343–51.

    Article  PubMed  Google Scholar 

  • Novello L, Speiser PW. Premature Adrenarche. Pediatr Ann. 2018;47(1):e7–e11.

    Article  PubMed  Google Scholar 

  • Palmert MR, Chan Y-M, Dunkel L. 18—Puberty and its disorders in the male. In: Sperling MA, editor. Sperling pediatric endocrinology. 5th ed. Philadelphia: Elsevier; 2021. p. 661–94.

    Chapter  Google Scholar 

  • Persani L, Bonomi M, Cools M, et al. ENDO-ERN expert opinion on the differential diagnosis of pubertal delay. Endocrine. 2021;71(3):681–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Roberts SA, Kaiser UB. GENETICS IN ENDOCRINOLOGY: genetic etiologies of central precocious puberty and the role of imprinted genes. Eur J Endocrinol. 2020;183(4):R107–17.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Roberts SA, Stafford DEJ. Delayed puberty and hypogonadism. In: Radovick S, Misra M, editors. Pediatric endocrinology: a practical clinical guide. Cham: Springer International Publishing; 2018. p. 569–88.

    Chapter  Google Scholar 

  • Rohani F, Asadi R, Mirboluk AA, Soheilipour F. Letrozole effect on final height of patients with constitutional delay of growth and puberty. Med Arch. 2019;73(5):307–10.

    Article  PubMed  PubMed Central  Google Scholar 

  • Rosenfield RL, Cooke DW, Radovick S. 16—Puberty in the female and its disorders. In: Sperling MA, editor. Sperling pediatric endocrinology. 5th ed. Philadelphia: Elsevier; 2021. p. 528–626.

    Chapter  Google Scholar 

  • Santi M, Graf S, Zeino M, et al. Approach to the virilizing girl at puberty. J Clin Endocrinol Metab. 2021;106(5):1530–9.

    Article  PubMed  Google Scholar 

  • Sliwowska JH, Ziarniak K, Dudek M, Matuszewska J, Tena-Sempere M. Dangerous liaisons for pubertal maturation: the impact of alcohol consumption and obesity on the timing of puberty. Biol Reprod. 2019;100(1):25–40.

    Article  PubMed  Google Scholar 

  • Smith CE, Biro FM. Pubertal development: what’s normal/what’s not. Clin Obstet Gynecol. 2020;63(3):491–503.

    Article  PubMed  Google Scholar 

  • Soriano-Guillén L, Argente J. Central precocious puberty, functional and tumor-related. Best Pract Res Clin Endocrinol Metab. 2019;33(3):101262.

    Article  PubMed  Google Scholar 

  • Stancampiano MR, Lucas-Herald AK, Russo G, Rogol AD, Ahmed SF. Testosterone therapy in adolescent boys: the need for a structured approach. Horm Res Paediatr. 2019;92(4):215–28.

    Article  CAS  PubMed  Google Scholar 

  • Styne D. Puberty. In: Gardner DG, Shoback D, editors. Greenspan’s basic & clinical endocrinology, Vol. 10. New York, NY: McGraw-Hill Education; 2018;10:547–74.

    Google Scholar 

  • Styne DM. Physiology & Disorders of Puberty. In: Melmed, Koenig, Rosen, Auchus & Goldfine (eds). Williams Textbook of Endocrinology, 14th edition. Elsevier Health. 2020:1023–64.

    Google Scholar 

  • Vazquez MJ, Velasco I, Tena-Sempere M. Novel mechanisms for the metabolic control of puberty: implications for pubertal alterations in early-onset obesity and malnutrition. J Endocrinol. 2019;242(2):R51–65.

    Article  CAS  PubMed  Google Scholar 

  • Voutilainen R, Jaaskelainen J. Premature adrenarche: etiology, clinical findings, and consequences. J Steroid Biochem Mol Biol. 2015;145:226–36.

    Article  CAS  PubMed  Google Scholar 

  • Ward LM, Weber DR, Munns CF, Hogler W, Zemel BS. A contemporary view of the definition and diagnosis of osteoporosis in children and adolescents. J Clin Endocrinol Metab 2020;105(5).

    Google Scholar 

  • Yilmaz B, Yildiz BO. Endocrinology of hirsutism: from androgens to androgen excess disorders. Front Horm Res. 2019;53:108–19.

    Article  PubMed  Google Scholar 

  • Zarnegar S, Gosiengfiao Y, Rademaker A, Casey R, Albritton KH. Recall of fertility discussion by adolescent female cancer patients: a survey-based pilot study. J Adolesc Young Adult Oncol. 2018;7(2):249–53.

    Article  PubMed  Google Scholar 

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Correspondence to Dennis M. Styne .

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Styne, D.M. (2023). Disorders of Puberty. In: Pediatric Endocrinology. Springer, Cham. https://doi.org/10.1007/978-3-031-09512-2_9

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  • DOI: https://doi.org/10.1007/978-3-031-09512-2_9

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