Skip to main content
SpringerLink
Log in

Genetic Causes of Delayed Puberty

  • Chapter
  • First Online:
Female Puberty

  • 1380 Accesses

Abstract

Genetic conditions account for about 20 % of cases of delayed puberty in females. A number of congenital or genetic syndromes are associated with delayed puberty. Patients present with either hypogonadotropic hypogonadism or hypergonadotropic hypogonadism. A full evaluation is indicated in all patients with delayed puberty to correctly identify the cause. The main causes of delayed puberty due to a genetic etiology include isolated gonadotropin deficiency and gonadal dysgenesis. Due to the lack of estrogen production, patients require hormone replacement in order to achieve breast development and eventually start menstruation. In addition, growth hormone is indicated for some cases and it is the standard of care for females with Turner syndrome. Finally, a multidisciplinary approach is recommended for all patients with delayed puberty to optimize growth and development.

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 119.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 159.00
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 159.99
Price excludes VAT (USA)
  • Durable hardcover 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

References

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

    Article  CAS  PubMed  Google Scholar 

  2. Fenichel P. Delayed puberty. Endocr Dev. 2012;22:138–59.

    Article  PubMed  Google Scholar 

  3. Sedlmeyer IL, Palmert MR. Delayed puberty: analysis of a large case series from an academic center. J Clin Endocrinol Metab. 2002;87:1613–20.

    Article  CAS  PubMed  Google Scholar 

  4. Bhagavath B, Layman LC. The genetics of hypogonadotropic hypogonadism. Semin Reprod Med. 2007;25(4):272–86.

    Article  CAS  PubMed  Google Scholar 

  5. Counts DR, Pescovitz OH, Barnes KM, Hench KD, Chrousos GP, Sherins RJ, Comite F, Loriaux DL, Cutler Jr GB. Dissociation of adrenarche and gonadarche in precocious puberty and in isolated hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 1987;64(6):1174–8.

    Article  CAS  PubMed  Google Scholar 

  6. Hoffman B, Bradshaw K. Delayed puberty and amenorrhea. Semin Reprod Med. 2003;21(4):353–62.

    Article  PubMed  Google Scholar 

  7. Pugliese MT, Lifshitz F, Grad G, Fort P, Marks-Katz M. Fear of obesity. A cause of short stature and delayed puberty. N Engl J Med. 1983;309:513.

    Article  CAS  PubMed  Google Scholar 

  8. Sedlmeyer IL, Hirschhorn JN, Palmert MR. Pedigree analysis of constitutional delay of growth and maturation: determination of familial aggregation and inheritance patterns. Clin Endocrinol Metab. 2002;87:5581.

    Article  CAS  Google Scholar 

  9. Winters SJ. Expanding the differential diagnosis of male hypogonadism. N Engl J Med. 1992;326:193–5.

    Article  CAS  PubMed  Google Scholar 

  10. Bergsma DR, Brown KS. Assessment of ophthalmologic, endocrinologic and genetic findings in the Bardet-Biedl syndrome. Birth Defects Orig Artic Ser. 1975;11(2):132–6.

    CAS  PubMed  Google Scholar 

  11. Sanlaville D, Verlos A. Charge syndrome: an update. Eur J Hum Genet. 2007;72:112–21.

    Google Scholar 

  12. Stochholm K, Juul S, Juel K, Naeraa RW, Gravholt CH. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab. 2006;91:3897–902.

    Article  CAS  PubMed  Google Scholar 

  13. Zhong Q, Layman LC. Genetic considerations in the patient with Turner syndrome—45,X with or without mosaicism. Fertil Steril. 2012;98:775–9.

    Article  PubMed Central  PubMed  Google Scholar 

  14. Gonzalez L, Witchel SF. The patient with Turner syndrome: puberty and medical management concerns. Fertil Steril. 2012;98:780–6.

    Article  PubMed Central  PubMed  Google Scholar 

  15. Wolff DJ, van Dyke DL, Powell CM. Laboratory guideline for Turner syndrome. Genet Med. 2010;12:52–5.

    Article  PubMed  Google Scholar 

  16. Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med. 2004;351:1227–38.

    Article  CAS  PubMed  Google Scholar 

  17. Ho VB, Bakalov VK, Cooley M, Van PL, Hood MN, Burklow TR, Bondy CA. Circulation. 2004;110:1694–700.

    Article  PubMed  Google Scholar 

  18. Practice Committee of the American Society for Reproductive Medicine. Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome. Fertil Steril. 2012;97:282–4.

    Google Scholar 

  19. Lleo A, Moroni L, Caliari L, Invernizzi P. Autoimmunity and Turner’s syndrome. Autoimmun Rev. 2012;11:A538–43.

    Article  CAS  PubMed  Google Scholar 

  20. Jager RJ, Anvret M, Hall K, Scherer G. A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature. 1990;348:452–4.

    Article  CAS  PubMed  Google Scholar 

  21. Michala L, Goswami D, Creighton SM, Conway GS. Swyer syndrome: presentation and outcomes. BJOG. 2008;115(6):737–41.

    Article  CAS  PubMed  Google Scholar 

  22. Sanders RD, Spencer JB, Epstein MP, Pollak SV, Vardhana PA, Lustbader JW, Fridovich-Keil JL. Biomarkers of ovarian function in girls and women with classic galactosemia. Fertil Steril. 2009;92(1):344–51.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  23. Wittenberger MD, Hagerman RJ, Sherman SL, McConkie-Rosell A, Welt CK, Rebar RW, Corrigan EC, Simpson JL, Nelson LM. The FMR1 premutation and reproduction. Fertil Steril. 2007;87(3):456–65.

    Article  CAS  PubMed  Google Scholar 

  24. Li H, Qiao J, Guo H. 17-alpha-hydroxylase deficiency: a case report with clinical and molecular analysis. Gynecol Endocrinol. 2010;26(7):521–3.

    Article  PubMed  Google Scholar 

  25. Davenport ML. Approach to the patient with Turner syndrome. J Clin Endocrinol Metab. 2010;95:1487–95.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Baylor College of Medicine, 6651 Main Street, Suite F1050, Houston, TX, 77030, USA

    Xiomara M. Santos M.D.

Authors
  1. Xiomara M. Santos M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Xiomara M. Santos M.D. .

Editor information

Editors and Affiliations

  1. Department of Obstetrics, Gynecology, and Pediatrics, Baylor College of Medicine, Texas Children’s Hospital, Houston, Texas, USA

    Jennifer E. Dietrich

Rights and permissions

Reprints and permissions

Copyright information

© 2014 Springer Science+Business Media New York

About this chapter

Cite this chapter

Santos, X.M. (2014). Genetic Causes of Delayed Puberty. In: Dietrich, J. (eds) Female Puberty. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-0912-4_12

Download citation

  • DOI: https://doi.org/10.1007/978-1-4939-0912-4_12

  • Published:

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-0911-7

  • Online ISBN: 978-1-4939-0912-4

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation