What is Medicine – Amenorrhea
The following are the basic descriptions of primary and secondary amenorrhea: Primary amenorrhea: No menses by age 13 years with no secondary sexual characteristics OR Secondary amenorrhea: cessation of menses for 3 months with previously regular cycles or 6 months with a history of irregular cycles Endocrine/metabolic; reproductive system(s) affected pregnant women's issues Secondary amenorrhea is almost always caused by pregnancy. EPIDEMIOLOGY There is no indication that race or ethnicity has any bearing on the prevalence of primary amenorrhea, which affects 1% of females, and secondary amenorrhea, which affects 3-4% of females. PATHOPHYSIOLOGY AND AETIOLOGY Menstrual irregularity caused by malfunction of the hypothalamus, pituitary, uterus, ovaries, or vagina that may be transient, intermittent, or chronic Gonadal dysgenesis (such as Turner syndrome [45,X]) or failure (such as autoimmune, idiopathic) are the two primary causes of amenorrhea. - Anatomic anomalies (e.g., müllerian agenesis, imperforate hymen, transverse vaginal septum) - Abnormalities of the hypothalamus and pituitaryReduced GnRH secretion, such as in cases of anorexia nervosa and functional hypothalamic amenorrhea,Puberty physiologically delayed; central lesions (tumours, hypophysitis, granulomas)Pituitary dysfunction (hyperprolactinemia, aberrant FSH, LH, or GnRH levels, or any combination thereof)) - Polycystic ovarian syndrome (PCOS) - Hypothyroidism) - The syndrome of androgen insensitivitye Amenorrhea secondary to pregnancy - Dysfunction of the hypothalamus (reduced GnRH secretion) Functional hypothalamic amenorrhea (as a result of anxiety, anorexia nervosa, or overexertion) Tumours of the hypothalamus A severe systemic ailment, such as celiac disease or type 1 diabetes Pituitary disorder, such as hyperprolactinemia, Sheehan syndrome, and Cushing syndrome, for example - PCOS - Thyroid illness - Conditions affecting the ovaries, such as ovarian tumours or primary ovarian insufficiency brought on by chemotherapy, radiation, or the fragile X syndrome. - Anatomical anomalies (such as iatrogenic cervical stenosis, obstructive fibroids, polyps, intrauterine adhesions [Asherman syndrome]). Depending on the aetiology, pathophysiology differs. Turner syndrome or testicular feminization may be genetic conditions. RISK FACTORS Include obesity, excessive exercise, and eating disorders (often referred to as the "female athlete triad"). Stress (emotional or illness-induced, such as myocardial infarction or severe burns) Amenorrhea or early menopause in the family history Antipsychotic medication use GENERAL PREVENTION maintaining a healthy body mass index (BMI) and leading a balanced, active lifestyle CONDITIONS OFTEN Associated with Autoimmune disorders like type 1 diabetes and autoimmune thyroiditis may be linked to primary ovarian insufficiency. Obesity and insulin resistance are linked to PCOS. Reduced oestrogen exposure may raise the incidence of osteopenia or osteoporosis. DIAGNOSIS HISTORY Review of systems, including virilizing changes, cyclic pelvic discomfort, galactorrhea, headaches, visual changes, weariness, palpitations, polyuria/polydipsia, weight change, pregnancy or menopausal symptoms, History of growth and pubertal development, including pubertal growth spurt age, adrenarche (early sexual maturation), and chemotherapy or radiation prior to adolescence Obstetric history Psychiatric history Social history, including diet and exercise history, drug abuse history, sexual history, and stress Family history of delayed or absent puberty Physical examination includes a look at general appearance, vital signs, height, weight, growth percentile, and BMI, as well as a look for hypotension, bradycardia, and hypothermia (anorexia nervosa). HEENT exam findings include dental erosions, palate trauma from bulimia, visual field defects, funduscopic changes, cranial nerve findings from prolactinoma, webbed neck from Turner syndrome, and thyromegaly. Skin exam findings include androgen excess (acne, hirsutism), acanthosis nigricans (PCOS), striae, vitiligo, and easily bruised skin. Breast exam findings include the stage of development, galactorrhea (prolactinoma), and shield chest (Turner syndrome). Pelvic exam findings include the presence or absence of pubic hair (if sparse, androgen insensitivity or deficiency), clitoromegaly (androgen excess), distention or bulging of the external vagina (imperforate hymen), thin, pale vaginal mucosa without rugae (oestrogen de) DETECTION & INTERPRETATION OF DIAGNOSIS Initial examinations (lab, imaging) Serum thyroid-stimulating hormone (TSH), prolactin (PRL), hCG, and FSH are indicators of primary amenorrhea. - If there is little or no breast development: Low FSH points to a main hypothalamic-pituitary cause or a genetic delay in puberty. High FSH is a sign of gonadal failure, hence a karyotype study needs to be done. – If breast development is normal, check for anatomic anomalies if FSH levels are low. Analyse the karyotype, the testosterone level, and the dehydroepiandrosterone sulphate (DHEA-S) levels if the uterus is absent or atypical. Serum hCG, PRL, TSH, and FSH are indicators of secondary amenorrhea. PRL >100 ng/mL: indicates pituitary adenoma or empty sella syndrome; nevertheless, levels can momentarily rise with stress. Repeat the test, and if it is elevated, have an MRI done for analysis. If your PRL is raised but under 100 ng/mL, you should check for additional causes, the majority of which are drugs. If FSH is high, think about primary ovarian insufficiency or menopause naturally. – Perform a progestin challenge to test endogenous oestrogen production; if withdrawal bleeding occurs, the condition chronic anovulation (most frequently PCOS) is likely. Perform an oestrogen and progestin challenge if there is no withdrawal bleeding: Consider outflow tract obstruction or hypoestrogenism if there is no bleeding. If bleeding occurs, check FSH/LH levels, which are increased in premature ovarian failure and decreased in eating disorders, chronic illnesses, and pituitary tumours. Measure the levels of total testosterone, DHEA-S, and 17-OH progesterone if hyperandrogenism is present. If testosterone is greater than 200 ng/dL, begin the assessment for an androgen-secreting tumour. Imaging is typically not recommended as a first line of treatment. The US can detect ovarian cysts (PCOS), the presence or absence of a uterus, and endometrial thickness; if the patient is unable to tolerate the US probe, MRI should be considered. Tests in the Future & Special Considerations Women under 30 with ovarian failure should have a karyotype analysis, as well as have their adrenal antibodies and fragile X syndrome premutation status checked. Karyotype analysis should also be carried out if there is no uterus or a foreshortened vagina. Laparoscopic diagnosis of polycystic or streak ovaries (Turner syndrome) Hysterosalpingogram: Distinguish different causes of outflow obstruction, such as Asherman syndrome. Other/Diagnostic Procedures If hypothalamic amenorrhea from functional suppression is suspected, take a dual energy x-ray absorptiometry (DEXA) scan to measure bone loss. If constitutional delay is indicated, get bone age. GENERAL TREATMENT MEASURES Identify and, if feasible, treat any underlying pathology. MEDICATION Medroxyprogesterone (Provera): 10 mg/day for 10 days will result in withdrawal bleeding within 7 days of last dose if hypothalamic-pituitary-gonadal axis is intact (i.e., amenorrhea is a result of anovulation and a lack of progesterone), although experts disagree. Oestrogen replacement: If the uterus and lower genital tract are normal (hypothalamic-pituitary axis pathologic), cycling with a combination oral contraceptive (containing 35 or 50 g of oestrogen) or conjugated oestrogen (Premarin) 0.625 mg for 25 days with progesterone added as above for the last 10 days will result in a withdrawal bleed. Hormone replacement therapy won't solve the fundamental issue. For example, bromocriptine is used to treat hyperprolactinemia when other medications are needed. For the long-term treatment of amenorrhea in elderly women, hormone replacement therapy is not advised. - Might be safe for treating symptoms in young women - Give to young girls and women to retain secondary sex characteristics and avoid osteoporosis. Oral contraceptive pills (OCPs), patches, and rings are examples of contraceptives that replace oestrogen while preventing conception. - Improve bone mineral density in women who are oligo-/amenorrheic but not in those who have functional hypothalamic amenorrheaCalcium supplementation: 1,500 mg/day if the cause is hypoestrogenism - Can reduce hirsutism in PCOS Metformin (Glucophage) has been used (starting at 500 mg BID) to address metabolic irregularities, promote ovulation, and restore regular menstrual cycles because PCOS and insulin resistance are connected. It is noteworthy that metformin therapy has increased clinical pregnancy rates but not live birth rates. Exogenous leptin injection appears to help functional hypothalamic amenorrhea; however, this is currently under investigation. Pregnancy, thromboembolic illness, past myocardial infarction or cerebrovascular accident, an estrogen-dependent cancer, and significant hepatic disease or impairment are all contraindications to the administration of oestrogen. Precautions: Women with amenorrhea who want to get pregnant shouldn't use HRT; instead, they should get treatment for infertility based on the cause. QUESTIONS FOR REFERENCE Referrals to ob/gyn, endocrine, surgical, and/or psychiatric experts are necessary for many reasons of amenorrhea. SURGICAL AND OTHER PROCEDURE If an imperforate hymen is the cause of the primary amenorrhea, hymenectomy In cases of Asherman syndrome, lysis of adhesions is frequently successful in reestablishing regular menstruation and fertility. Patients with congenitally short vagina can undergo surgery to create a functional vagina; treatment of prolactinomas may entail surgical resection; if the karyotype is XY, the gonads must be removed due to an elevated risk of tumours. CONTINUING CARE AFTERCARE RECOMMENDATIONS Activity level should be decreased by 25–50% if excessive exercise is indicated. Patient Monitoring Depending on the underlying cause and selected treatment If hormonal replacement therapy is utilised, stop using it after 6 months to monitor the reappearance of menstruation on its own. Diet: If PCOS is the underlying cause, a weight-loss diet will aid in resuming ovulation. Diet: Correct overweight or underweight by dietary management and behaviour change. EDUCATION OF PATIENTS Inform them about the specifics and side effects of her ailment as well as its underlying cause. Particular educational resources, such as prenatal classes and menopausal support groups, are beneficial. Talk about the projected amenorrhea duration (temporary or permanent), impact on fertility, and long-term effects of untreated amenorrhea (such as osteoporosis, vaginal dryness). Because fertility returns before menses, appropriate contraceptive counselling should be offered. If the amenorrhea is linked to a decline in fertility or sterility, more support might be required. PROGNOSIS shows the underlying reason. One study found that 83% of functional hypothalamic amenorrhea cases reversed when a clear contributing factor was present. COMPLICATIONS Increased risk of endometrial cancer in patients whose amenorrhea is caused by anovulation with oestrogen excess (obesity, PCOS) Premature ovarian failure may increase cardiovascular risk. Estrogen-deficiency symptoms (e.g., hot flashes, vaginal dryness) and osteoporosis in prolonged hypoestrogenic amenorrhea.
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