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.
KeywordsLuteinizing Hormone Congenital Adrenal Hyperplasia Sexual Maturation Precocious Puberty Pubic Hair
Androgen insensitivity syndrome
Congenital adrenal hyperplasia
Congenital absence of the uterus and vagina
Central nervous system
Disorders of sex development
Human chorionic gonadotropin
Magnetic resonance imaging
Polycystic ovarian syndrome
- 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.
- 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
- 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.
- 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
- Shahani SM. Delayed sexual maturation. In: Usha R, editor. Adolescence. Andhra Pradesh, India: Orient Blackswan; 2000. pp. 37–45.Google Scholar
- 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
- 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
- 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