Skip to main content
SpringerLink
Log in

Constitutional Delay of Growth and Puberty

  • Chapter
  • First Online:
Abnormal Female Puberty

  • 784 Accesses

Abstract

Girls with constitutional growth delay typically present in childhood with short stature and/or early adolescence with delayed puberty. Candidate genes producing the picture of short stature and delayed puberty with normal final height are being elucidated but are generally not sought in evaluation outside of research studies. If a family history of delayed puberty is known, review of growth history is reassuring, and bone age radiograph is delayed, diagnosis may be predicted and appropriate counseling given. In other cases in which family history is unknown or negative, evaluation for hypergonadotropic hypogonadism and hypogonadotropic hypogonadism must be undertaken. Although therapeutic options exist, most girls with constitutional delay will not require intervention. This chapter will examine the genetics and presentation of constitutional delay of puberty and growth, the differential diagnosis, therapeutic options, and prognosis for girls with this diagnosis.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 39.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Abbreviations

ALS:

Acid labile subunit

CDGP:

Constitutional delay of growth and puberty

FSH:

Follicle-stimulating hormone

GnRH:

Gonadotropin-releasing hormone

HH:

Hypogonadotropic hypogonadism

IGF1:

Insulin-like growth factor

IGFBP3IGF:

Binding protein 3

LH:

Luteinizing hormone

MPH:

Mid-parental prediction of height

PAH:

Predicted adult height

References

  1. Banerjee I, Clayton P. The genetic basis for the timing of human puberty. J Neuroendocrinol. 2007;19:831–8.

    Article  CAS  PubMed  Google Scholar 

  2. Pugliese-Pires PN, Fortin JP, Arthur T, Latronico AC, et al. Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty. Eur J Endocrinol. 2011;165:233–41.

    Article  CAS  PubMed  Google Scholar 

  3. Banerjee I, Hanson D, Perveen R, Whatmore A, Black GC, Clayton PE. Constitutional delay of growth and puberty is not commonly associated with mutations in the acid labile subunit gene. Eur J Endocrinol. 2008;158:473–7.

    Article  CAS  PubMed  Google Scholar 

  4. Beneduzzi D, Trarbach EB, Min L, Jorge AAL, et al. Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay. Endocr Dev. 2014;102(3):838–46.

    CAS  Google Scholar 

  5. Murray PG, Read A, Banerjee I, Whatmore A, et al. Reduced appetite and body mass index with delayed puberty in a mother and son: association with a rare novel sequence variant in the leptin gene. Eur J Endocrinol. 2011;164:521–7.

    Article  CAS  PubMed  Google Scholar 

  6. Clayton PE, Cianfarani S, Czernichow P, Johannsson G, Rapaport R, Rogal A. Management of the child born small for gestational age through to adulthood: a consensus statement of the International Societies of Pediatric Endocrinology and the Growth Hormone Research Society. J Clin Endocrinol Metab. 2007;92:804–10.

    Article  CAS  PubMed  Google Scholar 

  7. Harstad EB, Weaver AL, Katusic SK, Colligan RC, Kumar S, Chan E, Voigt RG, Barbaresi WJ. ADHD, stimulant treatment, and growth: a longitudinal study. Pediatrics. 2014;134(6):e935–44.

    Article  PubMed  PubMed Central  Google Scholar 

  8. Abassi V. Growth and normal puberty. Pediatrics. 1998;102(2 Pt3):507–11.

    Google Scholar 

  9. Gilli G. The assessment of skeletal maturation. Horm Res. 1996;45 Suppl 2:49–52.

    Article  CAS  PubMed  Google Scholar 

  10. Bramswig JH, Fasse M, Holthoff ML, et al. Adult height in boys and girls with untreated constitutional delay of growth and puberty, accuracy of five different methods of height prediction. J Pediatr. 1990;117(6):886–91.

    Article  CAS  PubMed  Google Scholar 

  11. Harrington J, Palmert MR. Distinguishing constitutional delay of growth and puberty from isolated hypogonadotropic hypogonadism: critical appraisal of available diagnostic tests. J Clin Endocrinol Metab. 2012;97:3056–67.

    Article  CAS  PubMed  Google Scholar 

  12. Palmert MR, Dunkel L. Delayed puberty. N Engl J Med. 2012;366:443–53.

    Article  CAS  PubMed  Google Scholar 

  13. Allen DB, Cuttler LC. Short stature in childhood-challenges and choices. N Engl J Med. 2013;368:1220–8.

    Article  CAS  PubMed  Google Scholar 

  14. Kaplowitz P. Delayed puberty. Pediatr Rev. 2010;31(5):189–95.

    Article  PubMed  Google Scholar 

  15. Vottero A, Pedori S, Verna M, Pagaono B, Cappa M, Loche S, Bernasconi S, Ghizzoni L. Final height in girls with central idiopathic precocious puberty treated with gonadotropin-releasing hormone analog and oxandrolone. J Clin Endocrinol Metab. 2006;91:1284–7.

    Article  CAS  PubMed  Google Scholar 

  16. Nilsson KO, Albertsson-Wikland K, Alm J, Aronson S, Gustafsson J, Hagenas L, Hager A, Ivarsson SA, Karlberg J, Kristrom B, Marcus C, Moell C, Ritzen M, Tuvemo T, Wattsgard D, Westgren U, Westphal O, Aman J. Improved final height in girls with Turner’s Syndrome treated with growth hormone and oxandrolone. J Clin Endocrinol Metab. 1996;81:635–40.

    CAS  PubMed  Google Scholar 

  17. Stahnke N, Keller E, Landy H, Serona Study Group. Favorable final height outcome in girls with Ullrich-Turner syndrome treated with low-dose growth hormone together with oxandrolone despite starting treatment after 10 years of age. J Pediatr Endocrinol Metab. 2002;15:129–38.

    Article  CAS  PubMed  Google Scholar 

  18. Sas TC, Gault EJ, Bardsley MZ, Menke LA, Freriks K, Perry RJ, Otten BJ, de Muinck Keizer-Schrama SM, Timmers H, Wit JM, Ross JL, Donaldson MD. Safety and efficacy of oxandrolone in growth hormone-treated girls with turner syndrome: evidence from recent studies and recommendations for use. Horm Res Paediatr. 2014;81:289–97.

    Google Scholar 

  19. Wehkalampi K, Päkklia K, Laine T, Dunkel L. Adult height in girls with delayed pubertal growth. Horm Res Paediatr. 2011;76:130–5.

    Article  CAS  PubMed  Google Scholar 

  20. Dunkel L, Quinton R. Transition in endocrinology: induction of puberty. Eur J Endocrinol. 2014;170:R229–39.

    Article  CAS  PubMed  Google Scholar 

  21. Phelan N, Conway SH, Llahana S, Conway GS. Quantification of the adverse effect of ethinylestradiol containing oral contraceptive pills when used in conjunction with growth hormone replacement in routine practice. Clin Endocrinol (Oxf). 2012;76:729–33.

    Article  CAS  Google Scholar 

  22. van der Klaauw AA, Biermasz NR, Zelissen PM, Pereira AM, Lentjes EG, Smit JW, van Thiel SW, Romijn JA, Roelfsema F. Administration route-dependent effects of estrogens on IGF-1 levels during fixed GH replacement in women with hypopituitarism. Eur J Endocrinol. 2007;157:709–16.

    Article  PubMed  Google Scholar 

  23. Davenport ML. Evidence of early initiation of growth hormone and transdermal estradiol therapies in girls with Turner syndrome. Growth Horm IGF Res. 2006;16(Suppl A):S91–7.

    Article  CAS  PubMed  Google Scholar 

  24. Poyrazuglu S, Günöz H, Darendeliler F, Saka N, Bundak R, Bas F. Constitutional delay of growth and puberty: from presentation to final height. J Pediatr Endocrinol Metab. 2005;18:171–9.

    Google Scholar 

  25. Crowne EC, Shalet SM, Wallace WH, Eminson DM, Price DA. Final height in girls with untreated constitutional delay in growth and puberty. Eur J Pediatr. 1991;150(10):712.

    Article  Google Scholar 

  26. Galvao TF, Silva MR, Zimmermann IR, Souza KM, Martins SS, Pereira MG. Pubertal timing in girls and depression: a systematic review. J Affect Disord. 2014;155:13–9.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Pediatric Endocrinology, University of Wisconsin, 600 Highland Avenue, H4/4, Madison, WI, 53792, USA

    M. Tracy Bekx M.D. & Ellen Lancon Connor M.D.

Authors
  1. M. Tracy Bekx M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Ellen Lancon Connor M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to M. Tracy Bekx M.D. .

Editor information

Editors and Affiliations

  1. Department of Obstetrics and Gynecology, Hofstra Northwell School of Medicine, Manhasset, New York, USA

    Heather L. Appelbaum

Rights and permissions

Reprints and permissions

Copyright information

© 2016 Springer International Publishing Switzerland

About this chapter

Cite this chapter

Bekx, M.T., Connor, E.L. (2016). Constitutional Delay of Growth and Puberty. In: Appelbaum, H. (eds) Abnormal Female Puberty. Springer, Cham. https://doi.org/10.1007/978-3-319-27225-2_3

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-27225-2_3

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-27223-8

  • Online ISBN: 978-3-319-27225-2

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation