The clinical significance of a lack of regular menstrual cycles extends beyond reproductive concerns. Clinical features of young women with hypergonadotropic. Update in hyper and hypogonadotropic amenorrhea the. Amenorrhoea amenorrhoea is the absence of menses in a woman of reproductive age.
Primary amenorrhea with a blind or absent vagina points directly to an anomaly of the genital outflow tract 2. If a uterus is present, outflow track obstruction may be to blame for primary amenorrhoea. In a large case series of primary amenorrhea, the most common etiologies were. Primary and secondary amenorrhea describe the occurrence of amenorrhea before and after menarche, respectively. Slap, mdt this is the first of a twopan article about menstrual disorders in the adolescent. Evaluation and management of a patient with amenorrhea is common in gynecology, and the prevalence of pathologic amenorrhea ranges from 3 to 4 percent in reproductiveaged populations bachmann, 1982. Primary amenorrhea an overview sciencedirect topics. Amenorrhea absence of menses can be a transient, intermittent, or permanent condition resulting from dysfunction of the hypothalamus, pituitary, ovaries. A 19yearold proposita with a complaint of amenorrhea.
Investigations for the cause must begin if no menstruation occurs till years of age and there is the absence female secondary sexual character. If the patient is hypogonadotropic, axis 3 and 4 are involved. Hypogonadotropic amenorrhea article about hypogonadotropic. However, all causes of secondary amenorrhea can also present as primary amenorrhea table 1 and table 2. Evaluation and management of a patient with amenorrhea is common in gynecology. The term premature ovarian insufficiency poi currently used in the literature worldwide substitutes the previously used pof premature ovarian failure. Management of primary amenorrhoea amrit neupane 8 2. A randomized, controlled trial of estradiol replacement therapy in women with hypergonadotropic amenorrhea. In patients with primary amenorrhea, the presence or absence of sexual development should direct the evaluation. Amenorrhea differential diagnoses medscape reference.
Xautosome translocations are frequently associated with primary or secondary ovarian failure and at times turner syndromelike features if there is an involvement of the critical region of xqq26. Etiological evaluation of adolescents with primary. It also considers the diagnosis and treatment of abnormal uterine bleeding at all stages of life. Imaging plays a vital role in etiology of primary amenorrhea. Amenorrhea is the absence of a menstrual period in a woman of reproductive age. These patients may sometimes bleed when the progestin withdrawal test is done, and this has prompted some investigators to suggest that it should be called hypergonadotropic amenorrhea or primary ovarian insufficiency.
Hypergonadotropic forms of amenorrhea springerlink. All clinical investigations are described in table s1 available online. To investigate whether an abnormality of prl secretion exists in idiopathic hypogonadotropic primary amenorrhea ihpa, the response of serum prl to sulpiride, a dopamine antagonist and powerful provocative agent for the release of this hormone, was studied in 15 patients with hypergonadotropic group a, 10 patients with normogonadotropic group b primary amenorrhea. Prevalence of primary amenorrhea includes hypergonadotropic hypogonadism 48. At age years, if no menses have occurred and there is a complete absence of secondary sexual. Physiological states of amenorrhoea are seen, most commonly, during pregnancy and lactation breastfeeding, the latter also forming the basis of a form of contraception known as the lactational amenorrhoea method. Although gonadal function was normal in men with the disease, the women in this study had evidence of hypergonadotropic hypogonadism, with varying degrees of primary and secondary amenorrhea and oligomenorrhea. Primary amenorrhea gonadal dysgenesis 46 xx, 46 xy swyerssyndrome, others secondary amenorrhea gonadectomy premature ovarian insufficiency radiation, chemotherapy, ovarian surgery menopause evaluation.
Breastfeeding is a common cause of secondary amenorrhoea, and often the condition lasts for over six months. The majority of the causes of primary and secondary. Primary amenorrhea is usually the result of a genetic or anatomical abnormality. Current evaluation of amenorrhea health science center. The presence of y chromosome is indication for gonadectomy. Amenorrhea has classically been defined as primary no prior menses or. Primary amenorrhea and the potential for impaired fertility affect the emotional health of the adolescent and her family. Secondary amenorrhea is defined as the cessation of menstruation for at least 6 months or for at least 3 of the previous 3 cycle intervals. At a glance amenorrhea is the absence of menstrual blood flow. However, an evaluation should be initiated if a 15yearold with normal secondary sexual characteristics or a yearold without secondary sexual characteristics has failed to menstruate. These images are a random sampling from a bing search on the term hypergonadotropic hypogonadism.
Amenorrhea occurs if a woman misses three or more periods in a row. Amenorrhea is a relatively common condition that is present in up to 5% of adult women at any time. Withdrawal bleeding occurred commonly 48% in those. Primary amenorrhea is failure of menses to occur by age 15 years in patients with normal growth and secondary sexual characteristics. Hypergonadotropic hypogonadic amenorrhea world health. Amenorrhea1,2 o absence of menses o primary amenorrhea no menarche by age 16 years with normal secondary sex characteristics 14 years in absence of normal secondary sex characteristics o secondary amenorrhea absence of menses in women after menarche 3. See causes of primary amenorrhea, section on outflow tract disorders. Early diagnosis and treatment is necessary to prevent complications and social consequences. She had developed breast tissue and pubic hair starting. Pdf on oct 26, 2011, valentina chiavaroli and others published primary and. Oct 11, 2019 these images are a random sampling from a bing search on the term hypergonadotropic hypogonadism. There are two primary ways to classify amenorrhoea.
Amenorrhea has classically been defined as primary no. Primary amenorrhea is the failure to begin menstruation when expected. Menarche usually occurs at around 12 years of age, within three years of breast development when most girls have tanner breast stage iv. Amenorrhea not due to pregnancy, lactation, or menopause is a relatively common abnormality of the reproductive years and indicative of a defect somewhere in the hypothalamicpituitaryovarianuterine axis. Primary and secondary amenorrhea describes the occurrence. Amenorrhea, oligomenorrhea amenorrhea primary amenorrhea no menarche by age 14 without secondary sexual characteristics no menarche by age 16 with secondary sexual characteristics secondary amenorrhea absence of menses in a previously menstruating woman no menses for 3 cycle lengths in previously cycling woman or. To investigate whether an abnormality of prl secretion exists in idiopathic hypogonadotropic primary amenorrhea ihpa, the response of serum prl to sulpiride, a dopamine antagonist and powerful provocative agent for the release of this hormone, was studied in 15 patients with hypergonadotropic group a, 10 patients with normogonadotropic group b primary amenorrhea, and 20. While one third of index cases had primary gonadal failure hypergonadotropic.
Menstrual disorders american academy of pediatrics. Lockwood1 casedescription a 33yearold nulligravid woman presented to her gynecologist after experiencing 5 months of secondary. Hypergonadotropic hypogonadism an overview sciencedirect. Etiological evaluation of adolescents with primary amenorrhea. The cause can be either primary or secondary, while the function refers to the type of. Amenorrhea has classically been defined as primary no prior menses or secondary cessation of menses. Mcm9 mutations are associated with ovarian failure, short. Amenorrhea is the sixth major cause of female infertility affecting 25% of women in reproductive age. Feb 26, 2019 there are two main ways to classify amenorrhea, one is by the cause and the other is by the function. Thus, by definition, young women with hypergonadotropic amenorrhea should have premature ovarian failure pof. The 97 women with secondary hypergonadotropic amenorrhea were significantly more apt. Clinical features of young women with hypergonadotropic amenorrhea. Primary amenorrhea should be considered in any patient with secondary sex characteristics who has not experienced periodic.
The 97 women with secondary hypergonadotropic amenorrhea were significantly more apt to complain of symptoms of estrogen deficiency, have been pregnant before diagnosis, and have evidence of ovulation after diagnosis. Primary amenorrhea is the absence of menses by 15 years old in the presence of normal growth and. For girls with primary amenorrhea unrelated to outflow tract anomalies, the diagnostic evaluation is similar to that for girls who experience secondary amenorrhea. Primary amenorrhea is the failure to start having a period by the age of 16. Feb 06, 2012 history and physical examination completed for a patient with primary amenorrhea secondary sexual characteristics present no yes measure fsh and lh levels uterus absent or abnormal uterus present or normal karyotype analysis outflow obstruction fsh and lh hypergonadotropic hypogonadism karyotype analysis. Outside the reproductive years, there is absence of menses during childhood and after menopause. Ultrasound is the first line investigation while magnetic. Primary amenorrhea is defined as a failure to reach menarche.
Investigations for the cause must begin if no menstruation occurs till years of age and there is the absence female secondary sexual chara. If the patient is hypergonadotropic and younger than 30 years karyotype determination is necessary. It is caused by dysfunctioning of the pituitary gland, ovaries, uterus, and hypothalamus, by surgical removal of the ovaries or uterus, by medication, or by emotional trauma. Etiology and treatment of hypogonadism in adolescents. Evaluation of amenorrhea, anovulation, and abnormal. Current evaluation of amenorrhea the practice committee of the american society for reproductive medicine birmingham, alabama amenorrhea is the absence or abnormal cessation of the menses. Premature ovarian failure, which is endocrinologically characterized by hy. Primary amenorrhea pa has traditionally been defined as failure to menstruate by age 16. If youve never had a period, your doctor may examine your breasts and genitals to see if youre experiencing the normal changes of puberty. Disorders of andro gen excess may produce primary or secondary amenorrhea, but. The majority of the causes of primary and secondary amenorrhea are similar. History and physical examination completed for a patient with primary amenorrhea secondary sexual characteristics present no yes measure fsh and lh levels uterus absent or abnormal uterus present or normal karyotype analysis outflow obstruction fsh and lh amenorrhea. This chapter considers the various causes of amenorrhea and their treatment. However if patients have had no menstrual periods by age and have no signs of puberty eg, any type of breast development, they should be.
Amenorrheaetiologic approach to diagnosis fertility and sterility. Jan 15, 2018 amenorrhea not due to pregnancy, lactation, or menopause is a relatively common abnormality of the reproductive years and indicative of a defect somewhere in the hypothalamicpituitaryovarianuterine axis. Evaluation of amenorrhea, anovulation, and abnormal bleeding. Evaluation and treatment american family physician. Primary amenorrhea is a delay in or a failure to start menstruation.
In a patient who fails to enter puberty, hypergonadotropic. Oct 14, 2019 primary amenorrhea and the potential for impaired fertility affect the emotional health of the adolescent and her family. Serum fsh will be high karyotype all patients under 40. An approach to a patient of amenorrheacase report and. Premature ovarian damage with onset before menarche is expressed clinically with primary hypergonadotropic amenorrhea. Hypergonadotropic hypogonadism and cerebellar ataxia. Differential diagnosis of primary amenorrhea causes of primary amenorrhea should be evaluated in the context of the presence or absence of secondary sexual characteristics. Evaluation and management of amenorrhea mayo clinic.
Specific diagnostic evaluation for primary amenorrhea. Primary amenorrhea is defined as the absence of menses at age 15 years in the presence of normal growth and secondary sexual characteristics. Timing of the evaluation of primary amenorrhea recognizes the trend to earlier age. Pediatric annals this 16yearold girl was seen for evaluation of primary amenorrhea. Does this patient have primary amenorrhea, secondary amenorrhea or oligomenorrhea. Primary amenorrhea affects 25% of adolescent girls. Hypergonadotropic hypogonadism elevated fsh and lh levels in patients with primary. It is important to consider all causes of secondary amenorrhea in the evaluation of primary amenorrhea. The identification of primary amenorrhea should always prompt a thorough evaluation to identify a cause. Episodes of amenorrhea as short as 90 d may have implications for bone and cardiovascular health. Specifically, the prevalence of pathologic amenorrhea ranges from 3 to 4 percent in reproductiveaged populations bachmann, 1982. Michael evans developed the onepager concept to provide clinicians with useful clinical information on primary care topics. Translocations involving x chromosome and an autosome are rather rare due to the associated infertility in men and subfertility in women.
Hipergonadotroficp is also little understanding of the pathophysiology mechanism of this association. Primary amenorrhea in a teenager the foundation for. Because pregnancy is a common cause for secondary amenorrhea. During your appointment, your doctor will perform a pelvic exam to check for any problems with your reproductive organs. Because only 3 diagnoses are unique to primary amenorrhea and never cause secondary amenorrhea, differentiating primary from secondary amenorrhea does little to enhance the clinicians understanding of the etiology. In summary, the affected daughters presented with hypergonadotropic primary amenorrhea, short stature, low weight, and a normal 46,xx karyotype. Hypogonadotropic amenorrhea definition of hypogonadotropic. Primary amenorrhea pa is defined when a patient does not get periods by the age of 14 in the absence of secondary sex characters or ii if there are no. Pdf amenorrhea results when the orderly sloughing of the uterine lining on account of the interactions of hormones fails to occur. Age 15 is commonly used as the cutoff for primary amenorrhea because 98% of girls in the u. Menarche occurs, on average, 2 years after breast development. Adolescence encompasses a broad spectrum of emotional maturity, which needs to be considered in assessment and treatment.
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