Delayed Puberty and Amenorrhea

ABSTRACT

The ability to diagnose and manage disorders that cause delayed puberty requires a thorough understanding of the physical and hormonal events of puberty. Wide variation exists within normal pubertal maturation, but most adolescent girls in the United States have begun to mature by the age of 13. Delayed puberty, a rare condition in girls, occurs in only ~2.5% of the population. Constitutional delay, genetic defects, or hypothalamic-pituitary disorders are common causes. Amenorrhea, often found as a symptom of delayed puberty, may be due to congenital genital tract anomalies, ovarian failure, or chronic anovulation with estrogen presence or with estrogen absence.

KEYWORDS

Puberty - delayed - primary and secondary amenorrhea

REFERENCES

• 1 Bradshaw K D, Quigley C A. Disorders of pubertal development. In: Jameson JL, ed. Principles of Molecular Medicine Totowa, NJ: Humana Press 1998: 569-580
• 2 Palmert M R, Boepple P A. Variations in the timing of puberty: clinical spectrum and genetic investigation.  J Clin Endocrinol Metab . 2001;  86 2364-2368
• 3 Grumbach M M, Styne D M. Puberty: ontogeny, neuroendocrinology, physiology. In: Willson JD, Foster DW, eds. Williams Textbook of Endocrinology, 8th ed Philadelphia: W. B. Saunders 1992: 1139
• 4 Emans S JH, Goldstein D P. Pediatric and Adolescent Gynecology.  Boston: Little Brown and Company; 1990
• 5 Carr B R, Bradshaw K D. Disorders of the ovary and female reproductive tract. In: Braunwald E, et al, eds. Harrison's Principles of Internal Medicine 15th ed. New York: McGraw- Hill 2001: 2154
• 6 Plant T M. Puberty in primates. In: Knobil E, Neill JD, eds. The Physiology of Reproduction, 2nd ed New York: Raven Press 1994: 453-485
• 7 Speroff L, Glass R H, Kase N G. Clinical Gynecologic Endocrinology and Infertility.  6th ed. Philadelphia: Lippincott Williams & Wilkins; 1999
• 8 Duke V M, Winyard P J, Thorogood P, Soothill P, Bouloux P M, Woolf A S. KAL, a gene mutated in Kallmann's syndrome, is expressed in the first trimester of human development.  Mol Cell Endocrinol . 1995;  110 73-79
• 9 Hardelin J P, Petit C. A molecular approach to the pathophysiology of the X-linked Kallman's syndrome.  Baillieres Clin Endocrinol Metab . 1995;  9 489-507
• 10 Legouis R, Cohen-Salmon M, Del Castillo I. Petit C isolation and characterization of the gene responsible for the X chromosome-linked Kallmann syndrome.  Biomed Pharmacother . 1994;  48 241-246
• 11 Winters S J. Expanding the differential diagnosis of male hypogonadism.  N Engl J Med . 1992;  326 193-195
• 12 Hardelin J P, Levilliers J, Blanchard S. Heterogeneity in the mutations responsible for X chromosome linked Kallman syndrome.  Hum Mol Genet . 1993;  2 373-377
• 13 Kalantaridou S N, Chrousos G P. Monogenic disorders of puberty.  J Clin Endocrinol Metab . 2002;  87 2481-2494
• 14 Aittomäki K, Lucena J LD, Pakarinen P. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure.  Cell . 1995;  82 959-968
• 15 Burstein S. Editorial: growth disorders after cranial radiation in childhood.  J Clin Endocrinol Metab . 1994;  78 1280-1281
• 16 Clayton R N. Molecular genetics, hypogonadism and luteinizing hormone.  Clin Endocrinol (Oxf) . 1992;  37 201-202
• 17 Furui K, Suganuma N, Tsukahara S-I. Identification of two point mutations in the gene coding luteinizing hormone (LH) β-subunit, associated with immunologically anomalous LH variants.  J Clin Endocrinol Metab . 1994;  78 107-113
• 18 Latronico A C, Anasti J, Arnhold I JP. Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone.  N Engl J Med . 1996;  334 507-512
• 19 Laue L, Wu S M, Kudo M. A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia.  Hum Mol Genet . 1995;  4 1429-1433
• 20 Weiss J, Axelrod L, Whitcomb R W, Harris P E, Crowley W F, Jameson J L. Hypogonadism caused by a single amino acid substitution in the β subunit of luteinizing hormone.  N Engl J Med . 1992;  326 179-183
• 21 Matthews C H, Borgato S, Beck-Peccoz P. Primary amenorrhoea and infertility due to a mutation in the β-subunit of follicle-stimulating hormone.  Nat Genet . 1993;  5 83-86
• 22 Carr B R. The normal menstrual cycle: the coordinated events of the hypothalamic-pituitary-axis and the female reproductive tract. In: Carr BR, Blackwell RE, eds. Textbook of Reproductive Medicine, 2nd ed Stamford, CT: Appleton and Lange 1998: 233
• 23 Bradshaw K D, Waterman M R, Couch R T, Simpson E R, Zuber M X. Characterization of complementary deoxyribonucleic acid for human adrenocortical 17α-hydroxylase: a probe for analysis of 17α-hydroxylase deficiency.  Mol Endocrinol . 1987;  1 348-354
• 24 Hillard P JA. Menstruation in young girls: a clinical perspective.  Obstet Gynecol . 2002;  99 655-662
• 25 Gell J S, Bradshaw K D. Recognition and management of congenital reproductive anomalies. In: Berga SL, Taylor RN, Braly R, eds. Current Problems in Obstetrics, Gynecology, and Fertility 1998 21: 56-96
• 26 Gold J J. Gynecologic Endocrinology.  Hagerstown, MD: Harper & Row; 1980
• 27 Yen S SC. Polycystic ovary syndrome: hyperandrogenic chronic anovulation. In: Yen SSC, Jaffe RB, Barbieri RL, eds. Reproductive Endocrinology: Physiology, Pathophysiology, and Clinical Management, 4th ed Philadelphia: W.B. Saunders 1999: 413