Disorders of Sexual Maturation



Puberty is a dynamic period of physical growth, sexual maturation, and psychosocial achievement when an individual first attains fertility and is capable of reproduction. Physical changes that occur during puberty include somatic growth, primary sexual organ development, and the appearance of secondary sexual characteristics. The age of onset varies as a function of sex, ethnicity, health status, genetics, nutrition, and activity level. Puberty is initiated by hormonal changes triggered by the hypothalamus. Sexual maturation can occur at an early age, at the expected time, or late. In clinical practice, it is important to recognize when variations are normal and when referral should be made for further evaluation for delayed growth and sexual maturation. Constitutional delay is a non-pathological variation within normal growth parameters but can cause anxiety for children and parents. Pathologic causes of delayed sexual maturation include hypopituitarism, involvement of the hypothalamus, deficiency of gonadotropin-releasing factor, chronic disease, handicapping disorders, undernutrition, chronic anemia, growth hormone deficiency, and primary gonadal failure. The Tanner criteria should be used in assessing sexual maturation, and bone age evaluation for skeletal growth. Abnormal puberty patterns, investigations, assessment, and management are reviewed.


Luteinizing Hormone Congenital Adrenal Hyperplasia Sexual Maturation Precocious Puberty Pubic Hair 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Adrenocorticotropic hormone


Androgen insensitivity syndrome


Congenital adrenal hyperplasia


Congenital absence of the uterus and vagina


Central nervous system




Dehydroepiandrosterone sulfate


Disorders of sex development


Follicle-stimulating hormone


Gonadotropin-releasing hormone


Human chorionic gonadotropin




Luteinizing hormone


McCune–Albright syndrome


Magnetic resonance imaging


Polycystic ovarian syndrome




Thyroid-stimulating hormone


  1. Albanese A, Stanhope R. Investigation of delayed puberty. Clin Endocrinol (Oxf). 1995;43(1):105–10.CrossRefGoogle Scholar
  2. Balducci R, Boscherini B, Mangiantini A, Morellini M, Toscano V. Isolated precocious pubarche: an approach. J Clin Endocrinol Metab. 1994;79:582–9.PubMedCrossRefGoogle Scholar
  3. Blondell RD, Foster MB, Dave KC. Disorders of puberty. Am Fam Phys. 1999;60(1). http://www.aafp.org/afp/990700ap/209.html. Accessed 3 May 2009.
  4. Castiglia PT. Delayed sexual development. J Pediatr Health Care. 1991;5(4):213–4.PubMedCrossRefGoogle Scholar
  5. Cherniske EM, Sadler LS, Schwartz D, Carpenter TO, Pober BR. Early puberty in Williams syndrome. Clin Dysmorphol. 1999;8(2):117–21.PubMedGoogle Scholar
  6. Ehrhardt AA, Meyer-Bahlburg HF. Psychosocial aspects of precocious puberty. Horm Res. 1994;41 Suppl 2:30–5.PubMedCrossRefGoogle Scholar
  7. Foster MB. Aberrant puberty. Obstet Gynecol Clin North Am. 1992;19:59–70.PubMedGoogle Scholar
  8. Herman-Giddens ME, Sandler AD, Friedman NE. Sexual precocity in girls. An association with sexual abuse? Am J Dis Child. 1988;142:431–3.Google Scholar
  9. Hughes IA. Intersex. BJU Int. 2002;90:769–76.PubMedCrossRefGoogle Scholar
  10. Jugdutt BI, Duncan NF, Bowen P, Rossall RE. The Marfan syndrome, coarctation of the aorta, and precocious puberty. Chest. 1997;71:797–8.CrossRefGoogle Scholar
  11. Kakarla N, Bradshaw KD. Disorders of pubertal development: precocious puberty. Semin Reprod Med. 2003;21(4):339–51.PubMedCrossRefGoogle Scholar
  12. Kerrigan JR, Rogol AD. The impact of gonadal steroid hormones on growth hormone secretion during childhood and adolescence. Endocr Rev. 1992;13:281–98.PubMedGoogle Scholar
  13. Maharaj D. Disorders of sex development: a review. Curr Wom Health Rev. 2008;4(4):223–39.CrossRefGoogle Scholar
  14. Mahoney CP. Adolescent gynecomastia. Differential diagnosis and management. Pediatr Clin North Am. 1990;37:1389–404.PubMedGoogle Scholar
  15. Marshall JC, Kalch RP. Gonadotropin releasing hormones. Role of pulsatile secretion in the regulation of reproduction. N Engl J Med. 1986;315:1459–60.PubMedCrossRefGoogle Scholar
  16. Marshall WA, Tanner JM. Variations in pattern of pubertal changes in girls. Arch Dis Child. 1969;44:291–303.PubMedCrossRefGoogle Scholar
  17. Marshall WA, Tanner JM. Variations in the pattern of pubertal changes in boys. Arch Dis Child. 1970;45:13–23.PubMedCrossRefGoogle Scholar
  18. Parker LN. Adrenarche. Endocrinol Metab Clin North Am. 1991;20:71–83.PubMedGoogle Scholar
  19. Quinn T, Erickson V, Knudson M. Down’s syndrome, precocious puberty, and transverse vaginal septum: an unusual cause of abdominal pain. J Pediatr Surg. 2001;36(4):641–3.PubMedCrossRefGoogle Scholar
  20. Rapaport R, Logrono R. Primary empty sella syndrome in childhood: association with precocious puberty. Clin Pediatr. 1991;30(8):466–71.CrossRefGoogle Scholar
  21. Reindollar RH, Lalwani SI. Abnormalities of female pubertal development. In: Rebar RW, editor. Endotext. Female reproductive endocrinology. 2002. http://www.endotext.org/female/female2/female2.htm. Accessed 4 May 2009.
  22. Reiter EO, Kaplan SL, Conte FA, Grumbach MM. Responsivity of pituitary gonadotropes to luteinizing hormone-releasing factor in idiopathic precocious puberty, precocious thelarche, precocious adrenarche, and in patients treated with medroxyprogesterone acetate. Pediatr Res. 1975;9:111–6.PubMedGoogle Scholar
  23. Sabin MA, Zacharin MR. Precocious puberty in Turner syndrome. J Paediatr Child Health. 2007;43(11):776–8.PubMedCrossRefGoogle Scholar
  24. Shahani SM. Delayed sexual maturation. In: Usha R, editor. Adolescence. Andhra Pradesh, India: Orient Blackswan; 2000. pp. 37–45.Google Scholar
  25. Speroff L, Glass RH, Kase NG. Abnormal puberty and growth problems. In: Mitchell C, editor. Clinical gynecologic endocrinology and infertility. 5th ed. Baltimore, MD: Williams & Wilkins; 1994. pp. 361–99.Google Scholar
  26. Stanhope R, Albanese A, Shalet S. Delayed puberty [editorial]. Br Med J. 1992;305:790.CrossRefGoogle Scholar
  27. Vakili R, Etemad-Rezaei H, Tafazoli M, Jalali-Mazlouman S. Central precocious puberty following diencephalic syndrome: a case report. Arch Iran Med. 2004;7(2):133–5.Google Scholar
  28. van der Burgt I. Noonan syndrome. Orphanet J Rare Dis. 2007;2:4. doi: 10.1186/1750-1172-2-4. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1781428. Accessed 9 May 2009.PubMedCrossRefGoogle Scholar
  29. Warren MP, Shantha S. The female athlete. Best Pract Res Clin Endocrinol Metab. 2000;14(1):37–53.CrossRefGoogle Scholar
  30. Wheeler MD, Styne DM. Diagnosis and management of precocious puberty. Pediatr Clin North Am. 1990;37:1255–71.PubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  1. 1.Department of Obstetrics and GynecologyUniversity of OtagoWellingtonNew Zealand
  2. 2.Women’s Health ServicesWellington Regional HospitalWellingtonNew Zealand

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