New MI, Lorenzen F, Lerner AJ, et al. Genotyping steroid 21hydroxylase deficiency: hormonal reference data. J Clin Endocrinol Metab 1983;57:320–326.
97.
Spritzer P, Billaud L, Thalabard J-C, et al. Cyproterone acetate versus hydrocortisone treatment in late-onset adrenal hyperplasia. J Clin Endocrinol Metab 1990;70:642–646.
98.
Horton R, Hawks D, Lobo R. 3a, 17b-Androstanediol glucuronide in plasma: a marker of androgen action in idiopathic hirsutism. J Clin Invest 1982;69:1203–1206.
99.
Hamerton JL, Canning N, Ray M, et al. A cytogenetic survey of 14,069 newborn infants. Incidence of chromosome abnormalities. Clin Genet 1975;4:223–243.
100.
Blackless M, Charuvastra A, Derryck A, et al. How sexually dimorphic are we? Am J Hum Biol 2000;12:151–166.
101.
Hricak H, Chang YCF, Thurner S. Vagina: evaluation with MR imaging. I. Normal anatomy and congenital anomalies. Radiology 1991;179:593.
102.
Ogilvy-Stuart AL, Brain CE. Early assessment of ambiguous genitalia. Arch Dis Child 2004;89:401–407.
103.
Imperato-McGinley J, Guerrero L, Gautier T, et al. Steroid 5a-reductase deficiency: an inherited form of male pseudohermaphroditism. Science 1974;186:1213–1215.
104.
Hughes IA. Congenital adrenal hyperplasia: a lifelong disorder. Horm Res 2007;68:84–89.
105.
Schardein JL. Congenital abnormalities and hormones during pregnancy: a clinical review. Teratology 1980;22:251–270.
106.
Bracken MB. Oral contraception and congenital malformations in offspring: a review and meta-analysis of the prospective studies. Obstet Gynecol 1990;76:552–557.
Valerie L. Baker Wendy J. Schillings Howard D. McClamrock
Girls experienced menarche at increasingly younger ages during the past century. Primary amenorrhea is defined as absence of menses at age 13 years when there is no visible development of secondary sexual characteristics or age 15 years in the presence of normal secondary sexual characteristics.
Absent or irregular menses may be an indication that a woman has a medical condition that can affect her overall health. The health implications can vary depending on the etiology of the amenorrhea. Therefore, a cause for amenorrhea should be established whenever possible.
When gonadal failure occurs in conjunction with primary amenorrhea, it is associated with a high incidence of abnormal karyotype.
The anatomic causes of amenorrhea are relatively few, and the majority may be diagnosed by history and physical examination.
The most important elements in the diagnosis of amenorrhea include physical examination for secondary sexual characteristics and anatomic abnormalities, measurement of human chorionic gonadotropin (hCG) to rule out pregnancy, serum prolactin and thyroid stimulating hormone (TSH) levels, and assessment of follicle-stimulating hormone (FSH) levels to differentiate between hypergonadotropic and hypogonadotropic forms of hypogonadism.