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Abstract: Secondary amenorrhea in women of reproductive age may be an indication of an undiagnosed, chronic condition and appropriate treatment is dependent upon accurate diagnosis of the underlying etiology. A thorough clinical assessment and a few common laboratory tests can easily identify the most frequent causes of secondary amenorrhea. However, once these have been ruled out, the more uncommon pathophysiologies can be difficult to diagnose due to similarities in presentation and appropriate laboratory testing and interpretation become critical. In these cases, misdiagnosis is unfortunately common and often the result of poor laboratory utilization in the form of a failure to employ indicated tests, the use of obsolete tests, or erroneous interpretation in the face of interfering factors or co-morbidities. Consequently, the algorithmic approach to laboratory evaluation in the context of secondary amenorrhea described in this review can minimize the risk of diagnostic error as well was decrease test volume, cost, and time to diagnosis. [Copyright &y& Elsevier]

The importance of chromosomal abnormalities in etiology of premature ovarian failure (POF) is well known but in many cases, POF still remains idiopathic. We investigated the frequency and type of chromosomal aberrations in Iranian women diagnosed with idiopathic POF. Standard cytogenetic analysis was carried out in a total of 179 patients. Karyotype analysis of these patients revealed that 161 (89.95%) patients had normal female karyotype and 18 (10.05%) patients had abnormal karyotypes. The abnormal karyotypes included sex reverse sex determining region Y (SRY) negative (five Cases), X chromosome mosaicism (five cases), abnormal X chromosomes (three cases), abnormal autosomes (three cases) and X-autosome translocation (two cases). The overall prevalence of chromosomal abnormalities was 10.05% in this first large-scale report of chromosomal aberrations in Iranian women with POF. The results confirm previous observations and emphasis on the critical role of X chromosome abnormalities as one of the possible etiologies for POF. [ABSTRACT FROM AUTHOR]

Background: The aim of the present study was to investigate the chromosomal abnormalities and to identify the most prevalent or frequent type of chromosomal abnormalities in cases of amenorrhea from the southern region of India. Methods: A total of 637 cases with amenorrhea were analyzed using G-banding, C-banding, Silver staining, and fluorescence in situ hybridization was done wherever necessary. Results: Out of the 637 cases involved in our study, 132 abnormalities were detected. The incidence of chromosomal abnormalities in cases with primary and secondary amenorrhea was around 20.7 %. In addition to the numerical anomalies, various structural aberrations of the X chromosome like deletions, isochromosomes, duplications, ring chromosome, and also male karyotype were detected. Conclusion: Review of the literature and overall incidence of chromosomal abnormalities in patients with amenorrhea suggests the need for cytogenetic analysis to be performed in all the cases referred for amenorrhea with or without short stature. Precise identification of chromosomal abnormalities helps in confirming the provisional diagnosis; it helps the secondary amenorrhea patients in assisted reproduction and to understand the clinical heterogeneity involved and in efficient genetic counseling. [ABSTRACT FROM AUTHOR]

Genetic, autoimmune, environmental, iatrogenic, and idiopathic factors are known to cause premature ovarian failure (POF). This report describes an X;11 translocation, t(X;11)(q22;q25), in a woman diagnosed with POF. The FSH level was found to be elevated. Menstrual cycle was regular initially, and she had a spontaneous abortion at the 5th month of gestation at 16 years of age. Her mother was karyotypically normal while her father was not investigated. Male carriers of X;autosome translocations are mostly infertile, and hence the translocation is presumed to be of de novo origin. Fluorescence in situ hybridization using whole chromosome paint probes confirmed the rearrangement. Copyright © 2013 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Study Objective. To elucidate the association between POF and inhibin alpha (inhibin á) G769A gene mutation and BMP15 variants in patients with POF. Design. Prospective analytic study. Setting: University hospital. Patients. Forty subjects were included, twenty patients with premature ovarian failure, of them 12 presented with primary amenorrhea and 8 with secondary amenorrhea, and twenty control subjects. Genetic analysis for inhibin á gene was done by Polymerase Chain Reaction- Restriction Fragment Length Polymorphism analysis (PCR- RFLP) and Bone Morphogenetic protein 15 (BMP15) by PCR- sequencing analysis . Measurements and Results. Regarding the inhibin á G769A gene mutation, heterozygous form was found in 3 patients of the primary amenorrhea group, while none of the secondary amenorrhea group or the control group displayed this mutation. A statistically significant prevalence of the G769A mutation among Egyptian women with POF presenting with primary amenorrhea was found. Mutational analysis of BMP15 gene performed by sequencing analysis showed no mutation among the patient or control group. Conclusion. In this study we concluded that inhibin á G769A gene mutation is more frequent among cases of POF presenting with primary amenorrhea and its presence conferred higher risk to development of POF. Variations of BMP15 gene were not encountered in the subjects of this study. [ABSTRACT FROM AUTHOR]

Objective. To evaluate whether neuroendocrine forms of secondary amenorrhea (hypothalamic nervosa (HA) and anorexia nervosa (AN)) affect serum anti-Müllerian hormone (AMH), inhibin B, and total inhibin levels. Methods. Amenorrheic women ( n == 82) (aged between 16 and 35 years old) according to diagnosed with neuroendocrine forms of amenorrhea: HA ( n == 64), AN ( n == 18), and healthy women ( n == 41) (control group) were enrolled. Serum AMH, inhibin B, and total inhibin levels were measured by specific ELISA. Results. No statistically significant difference of AMH serum levels between women with HA, AN, and control group was observed. Serum inhibin B and total inhibin levels in women with HA ( p < 0.0001), AN ( p < 0.05) resulted significantly lower than in control healthy women. Conclusion. The present data showed that neuroendocrine forms of amenorrhea are associated with an impaired inhibin secretion while not AMH. These data indirectly support that AMH is an excellent marker of ovarian reserve and its secretion is not influenced by the hypothalamic-ovarian axis activity. [ABSTRACT FROM AUTHOR]

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This retrospective study was designed to analyze the FSHR gene variants in subjects with primary and secondary amenorrhea with hypergonadotropic hypogonadism. Eighty six women with primary or secondary amenorrhea and 100 normally cycling proven fertile women of Indian origin were retrospectively studied. These subjects were systematically screened for entire FSHR gene. The frequency distribution of polymorphism at −29 position of FSHR gene is altered in women with primary and secondary amenorrhea as compared to controls. AA genotype at −29 position of FSHR gene seems to be associated with increased serum FSH levels in the study subjects. We have identified a novel homozygous mutation C1723T (Ala575Val) in one woman with primary amenorrhea. Our findings suggest that increased serum FSH levels in subjects with primary amenorrhea correlated to FSHR genotype at position −29. We identified a novel homozygous mutation C1723T (Ala575Val) in a woman with primary amenorrhea. [ABSTRACT FROM AUTHOR]

Objective: A preliminary study to evaluate the usefulness of homeopathic treatment in the care of menstrual irregularities. Method: Patients were diagnosed at the first appointment according to menstrual cycle over the past year: Amenorrhea (AM), Oligo-amenorrhea (OL-AM), OL, Taking hormone replacement therapy (HRT). All patients were prescribed an individualised, global homeopathic treatment. The main outcomes were: time to resumption of periods, change of clinical diagnosis at the end of follow-up or after 2 years. The secondary outcomes were: menstrual regularity at the end of follow-up, compared to pre-treatment frequency; flow characteristics; clinical course of acute and chronic concomitant symptoms. Results: 18 consecutive cases of secondary amenorrhea (SA) and oligomenorrhea (OL) met the entry criteria. 8 women had SA, 2 were on HRT, 6 had OL-AM and 2 had OL. The average duration of considered follow-up was 21 months. The average time before the reappearance of menstruation was 58 days (s.d. 20) in the 8 women with SA at the time of the first appointment, for all cases 46 days (s.d. 42). Change of clinical diagnosis: 50% of women, who were diagnosed AM, recovered their ovulatory cycle (OV), whereas 12.5% remained amenorrheic; 33.3% of patients, who were initially OL-AM, showed an OV; 100% of oligomenorrheic and HRT patients recovered an OV. The average frequency of spontaneous cycles per year changes from 4.32 (s.d. 1.97) pre-treatment to 9.6 cycles per year at the end (s.d. 2.92). Four detailed case histories are reported. [Copyright &y& Elsevier]

Menstruation is the cyclic, orderly sloughing of the uterine lining on account of the interactions of hormones produced by the hypothalamus, pituitary, and ovaries. There is a tendency among parents and clinicians to view oligo-amenorrhea as a normal variant in the teen years. In fact, the 95th percentile for the time interval between cycles is 90 days. Thus, it is abnormal for an adolescent to be amenorrheic for greater than 3 months, even in the early gynecologic years. Identification of abnormal menstrual patterns throughout adolescence may permit early identification of potential health concerns for adulthood. Few problems in gynecologic endocrinology are as complex or challenging to the clinician as amenorrhea. However, thorough evaluation of menstrual cycle disorders in adolescence provides a window of opportunity for early diagnosis and treatment of conditions affecting the hypothalamic-pituitary-ovarian (HPO) axis. Here we discuss a systematic approach to the evaluation and treatment of amenorrhea in adolescents who do not have androgen excess. There is strong evidence that estrogen deficiency is a risk factor for later development of osteoporosis and hip fracture. Delay in the evaluation and treatment of disordered menses in some cases may contribute to reduced bone density. Both patients and clinicians need to view the ovary as an important endocrine organ that helps maintain health, especially bone health. [ABSTRACT FROM AUTHOR]

Secondary amenorrhea in women with normal estrogen levels increases the risk of endometrial carcinoma. Cyclical dydrogesterone induces regular withdrawal bleeding and effectively protects the endometrium of postmenopausal women receiving estrogens. In order to assess the efficacy of dydrogesterone in inducing regular withdrawal bleeds in premenopausal women with secondary amenorrhea or oligomenorrhea and normal estrogen levels, a double-blind, randomized, placebo-controlled, multicenter study was conducted in 104 women using cyclical dydrogesterone as is used for estrogen replacement therapy. Treatment consisted of dydrogesterone (10 mg/day on days 1-14 followed by placebo on days 15-28 of each cycle) given for six cycles of 28 days. The control group received placebo throughout the six cycles. Bleeding was documented by the patient on diary cards. The number of women with withdrawal bleeding during the first cycle was twice as high in the dydrogesterone group as in the placebo group (65.4% vs. 30.8%; p = 0.0004). Superiority of dydrogesterone was also observed for regularity of bleeding over the six cycles (p < 0.0001), although endometrial thickness after six cycles did not differ between the groups. In conclusion, dydrogesterone is significantly superior to placebo in inducing withdrawal bleeding, and maintaining regular bleeding, in women with secondary amenorrhea and normal estrogen levels. [ABSTRACT FROM AUTHOR]

Abstract: Polycystic ovarian syndrome (PCOS) is the most common endocrine disease of women of reproductive age, yet it remains undiagnosed for many women. The reason the syndrome is often not diagnosed or is misdiagnosed is because PCOS can present with a variety of abnormalities that can be present in other endocrine dysfunctions and problems. Concerns about abnormal menses, an inability to conceive, or cosmetic problems often are what bring these women into the clinical setting. The disease is the result of a defect in the hypothalamic-pituitary-ovarian circuit, but the cause is unknown. With appropriate diagnosis and management, the patient may delay or prevent negative physical and psychological consequences brought on by this syndrome. [Copyright &y& Elsevier]

We report the case of 31-year-old patient with an inhibin B-secreting granulosa cell tumor of the left ovary who presented with secondary amenorrhea. Preoperative serum hormonal levels were as follows: follicle-stimulating hormone (FSH) 0.3 mIU/mL, luteinizing hormone (LH) 9.81 mIU/mL, estradiol 142.0 pg/mL and inhibin B 2429 pg/mL. Gonadotropin-releasing hormone (GnRH) test revealed no FSH response and a normal LH response. After removal of the tumor, the levels of FSH and inhibin B returned to within the normal range, and regular menses resumed 27 days postoperatively. In premenopausal women, secondary amenorrhea may be the initial manifestation of granulosa cell tumor. A low FSH level coupled with normal levels of E2 and LH, the inhibition of the FSH response to GnRH and an elevated inhibin level suggest the presence of an inhibin-secreting ovarian tumor and also rule out the possibility of isolated FSH deficiency. [ABSTRACT FROM AUTHOR]

Secondary amenorrhea, luteal phase defects and delayed menarche, are the most common types of menstrual dysfunction documented in athletes. While amenorrhea is more easily detected, luteal phase defects are asymptomatic and athlete perception of menstrual disruption is minimal. The prevalence of amenorrhea in the athletic population is well above that found in the general population. The occurrence of less symptomatic menstrual problems (e.g. luteal phase deficiency) among highly active women is likely much higher. This paper will briefly review these forms of menstrual irregularities, provide definitions and their assessment markers and a summary of the factors predisposing athletes to reproductive dysfunction. [ABSTRACT FROM AUTHOR]