It also considers the diagnosis and treatment of abnormal uterine bleeding at all stages of life. Pediatric annals this 16yearold girl was seen for evaluation of primary amenorrhea. Outside the reproductive years, there is absence of menses during childhood and after menopause. Evaluation of amenorrhea, anovulation, and abnormal. Disorders of andro gen excess may produce primary or secondary amenorrhea, but. Investigations for the cause must begin if no menstruation occurs till years of age and there is the absence female secondary sexual character.
In a large case series of primary amenorrhea, the most common etiologies were. Prolactin response to sulpiride in hypogonadotropic. Amenorrhea is the absence of a menstrual period in a woman of reproductive age. 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. Does this patient have primary amenorrhea, secondary amenorrhea or oligomenorrhea. Primary amenorrhea with a blind or absent vagina points directly to an anomaly of the genital outflow tract 2. However, all causes of secondary amenorrhea can also present as primary amenorrhea table 1 and table 2. 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.
Primary amenorrhea is usually the result of a genetic or anatomical abnormality. Fsh and lh were only mildly elevated with multiple ovarian follicles present with development and steroidogenesis upto early antral stage 28. All clinical investigations are described in table s1 available online. 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. In summary, the affected daughters presented with hypergonadotropic primary amenorrhea, short stature, low weight, and a normal 46,xx karyotype. The clinical significance of a lack of regular menstrual cycles extends beyond reproductive concerns. Amenorrhoea amenorrhoea is the absence of menses in a woman of reproductive age. There are two primary ways to classify amenorrhoea. 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. Amenorrhea is the sixth major cause of female infertility affecting 25% of women in reproductive age. Evaluation and management of amenorrhea mayo clinic. Timing of the evaluation of primary amenorrhea recognizes the trend to earlier age. 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.
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. 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. Because pregnancy is a common cause for secondary amenorrhea. A randomized, controlled trial of estradiol replacement therapy in women with hypergonadotropic amenorrhea. Etiological evaluation of adolescents with primary. Breastfeeding is a common cause of secondary amenorrhoea, and often the condition lasts for over six months. Oct 11, 2019 these images are a random sampling from a bing search on the term hypergonadotropic hypogonadism. Thus, by definition, young women with hypergonadotropic amenorrhea should have premature ovarian failure pof. Primary amenorrhea pa has traditionally been defined as failure to menstruate by age 16. A 19yearold proposita with a complaint of amenorrhea. The term premature ovarian insufficiency poi currently used in the literature worldwide substitutes the previously used pof premature ovarian failure.
Hypergonadotropic forms of amenorrhea springerlink. If the patient is hypogonadotropic, axis 3 and 4 are involved. Serum fsh will be high karyotype all patients under 40. While one third of index cases had primary gonadal failure hypergonadotropic. Amenorrhea has classically been defined as primary no prior menses or secondary cessation of menses. Amenorrhea has classically been defined as primary no. Differential diagnosis of primary amenorrhea causes of primary amenorrhea should be evaluated in the context of the presence or absence of secondary sexual characteristics. Primary amenorrhea is defined as the absence of menses at age 15 years in the presence of normal growth and secondary sexual characteristics. Amenorrhea absence of menses can be a transient, intermittent, or permanent condition resulting from dysfunction of the hypothalamus, pituitary, ovaries.
Primary amenorrhea an overview sciencedirect topics. If a uterus is present, outflow track obstruction may be to blame for primary amenorrhoea. Evaluation of amenorrhea, anovulation, and abnormal bleeding. Primary amenorrhea is defined as a failure to reach menarche. The majority of the causes of primary and secondary. Investigations for the cause must begin if no menstruation occurs till years of age and there is the absence female secondary sexual chara. The 97 women with secondary hypergonadotropic amenorrhea were significantly more apt.
Menstrual disorders american academy of pediatrics. Slap, mdt this is the first of a twopan article about menstrual disorders in the adolescent. Lh levels in patients with primary amenorrhea is caused. Early diagnosis and treatment is necessary to prevent complications and social consequences.
Amenorrhea occurs if a woman misses three or more periods in a row. 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. 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 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. Amenorrhea is a relatively common condition that is present in up to 5% of adult women at any time. Management of primary amenorrhoea amrit neupane 8 2. The majority of the causes of primary and secondary amenorrhea are similar. Primary amenorrhea in a teenager the foundation for. It is important to consider all causes of secondary amenorrhea in the evaluation of primary amenorrhea. In patients with primary amenorrhea, the presence or absence of sexual development should direct the evaluation. 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. Current evaluation of amenorrhea health science center. In a patient who fails to enter puberty, hypergonadotropic.
Ultrasound is the first line investigation while magnetic. At age years, if no menses have occurred and there is a complete absence of secondary sexual. Hypergonadotropic hypogonadism an overview sciencedirect. An approach to a patient of amenorrheacase report and.
Primary amenorrhea and the potential for impaired fertility affect the emotional health of the adolescent and her family. Primary amenorrhea is the failure to begin menstruation when expected. Withdrawal bleeding occurred commonly 48% in those. Pdf amenorrhea results when the orderly sloughing of the uterine lining on account of the interactions of hormones fails to occur. 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. See causes of primary amenorrhea, section on outflow tract disorders.
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. The presence of y chromosome is indication for gonadectomy. Update in hyper and hypogonadotropic amenorrhea the. Evaluation and treatment american family physician. Lockwood1 casedescription a 33yearold nulligravid woman presented to her gynecologist after experiencing 5 months of secondary. These images are a random sampling from a bing search on the term hypergonadotropic hypogonadism. Primary amenorrhea should be considered in any patient with secondary sex characteristics who has not experienced periodic. Secondary amenorrhoea is absence of periods for at least 3 months if the patient has previously had regular periods, and 6 months if she has previously had oligomenorrhoea.
Amenorrheaetiologic approach to diagnosis fertility and sterility. Hypergonadotropic hypogonadic amenorrhea world health. Hypogonadotropic amenorrhea article about hypogonadotropic. Primary amenorrhea gonadal dysgenesis 46 xx, 46 xy swyerssyndrome, others secondary amenorrhea gonadectomy premature ovarian insufficiency radiation, chemotherapy, ovarian surgery menopause evaluation. Hypergonadotropic hypogonadism and cerebellar ataxia. 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. Specifically, the prevalence of pathologic amenorrhea ranges from 3 to 4 percent in reproductiveaged populations bachmann, 1982. Clinical features of young women with hypergonadotropic amenorrhea. If youve never had a period, your doctor may examine your breasts and genitals to see if youre experiencing the normal changes of puberty. At a glance amenorrhea is the absence of menstrual blood flow. Amenorrhea has classically been defined as primary no prior menses or. Primary and secondary amenorrhea describe the occurrence of amenorrhea before and after menarche, respectively. Specific diagnostic evaluation for primary amenorrhea. Premature ovarian failure, which is endocrinologically characterized by hy.
Hypergonadotropic hypogonadism elevated fsh and lh levels in patients with primary. Primary and secondary amenorrhea describes the occurrence. 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 is the failure to start having a period by the age of 16. Amenorrhea differential diagnoses medscape reference. Mcm9 mutations are associated with ovarian failure, short. Determine the cause of hypogonadotropic or hypergonadotropic state. Premature ovarian damage with onset before menarche is expressed clinically with primary hypergonadotropic amenorrhea.
Hipergonadotroficp is also little understanding of the pathophysiology mechanism of this association. Evaluation and management of a patient with amenorrhea is common in gynecology. 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. Etiology and treatment of hypogonadism in adolescents. The cause can be either primary or secondary, while the function refers to the type of. Hypogonadotropic amenorrhea definition of hypogonadotropic. He also suggested using a separate category of ataxia with hypergonadotropic hypogonadism6. 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. The identification of primary amenorrhea should always prompt a thorough evaluation to identify a cause. She had developed breast tissue and pubic hair starting. Clinical features of young women with hypergonadotropic. Imaging plays a vital role in etiology of primary amenorrhea. Menarche occurs, on average, 2 years after breast development.
This chapter considers the various causes of amenorrhea and their treatment. Primary amenorrhea is the absence of menses by 15 years old in the presence of normal growth and. 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. 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.
Translocations involving x chromosome and an autosome are rather rare due to the associated infertility in men and subfertility in women. 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. Menarche usually occurs at around 12 years of age, within three years of breast development when most girls have tanner breast stage iv. Etiological evaluation of adolescents with primary amenorrhea. Oct 14, 2019 primary amenorrhea and the potential for impaired fertility affect the emotional health of the adolescent and her family. Circulating concentrations of follicle stimulating hormone fsh increase dramatically following both bilateral oophorectomy and the menopause. Michael evans developed the onepager concept to provide clinicians with useful clinical information on primary care topics. Episodes of amenorrhea as short as 90 d may have implications for bone and cardiovascular health. Prevalence of primary amenorrhea includes hypergonadotropic hypogonadism 48. Feb 26, 2019 there are two main ways to classify amenorrhea, one is by the cause and the other is by the function.
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