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Perrault syndrome (PRLTS) is a heterogeneous group of clinical and genetic disorders characterized by sensory neuronal hearing loss in both sexes and premature ovarian failure or infertility in females. Neurological and hearing loss symptoms appear early in life, but female infertility cannot be detected before puberty. Spastic limbs, muscle weakness, delayed puberty and irregular menstrual cycles have also been observed in PRLTS patients. Mutations in five genes, i.e. HSD17B4, HARS2, CLPP, LARS2, and C10orf2, have been reported in five subtypes of PRLTS. Here, we report a milder phenotype of PRLTS in a Turkish family in which two affected patients had no neurological findings. However, both were characterized by sensory neuronal hearing loss and the female sibling had secondary amenorrhea and gonadal dysgenesis. Genome-wide homozygosity mapping using 300K single-nucleotide polymorphism microarray analysis together with iScan platform (Illumina, USA) followed by candidate gene Sanger sequencing with ABI 3500 Genetic Analyzer (Life Technologies, USA) were used for molecular diagnosis. We found a novel missense alteration c.624C>G; p.Ile208Met in exon 5 of the CLPP at chromosome 19p13.3. This study expands the mutation spectrum of CLPP pathogenicity in PRLTS type 3 phenotype.

Objective: To determine the status of thyroid system in girls with secondary amenorrhea (SA).Patients and methods. The study included 82 girls in the age 14-17 years with SA (main group). The control group consisted of 78 girls of the same age with a normal volume of the thyroid gland (TG), harmonious physical development and normal menstrual function. Ultrasound examination and examination of the thyroid gland state are included in the study.Results. The results of visual palpation and ultrasound examination of the thyroid gland state revealed the presence of thyropathies in more than half of patients with SA: diffuse nontoxic goiter of 1-2 (9.8%), autoimmune thyroiditis (12.2%), nodular goiter (3.6%) and thyroid hypoplasia (17.1%).Conclusions a significant number of girls with SA have thyroid dysfunction due to various changes in TTH and free fractions of thyroid hormones independently on the presence of the thyroid pathology.Key words: girls, thyroid gland, thyroid status, secondary amenorrhea.

Compelling body of evidence exists to use bevacizumab, a humanized monoclonal anti-VEGF antibody, in selected paediatric patients with low-grade CNS tumours. Common toxicities of bevacizumab, hypertension, proteinuria, epistaxis, mucosal perforation, decreased wound healing are well reported. However, the effect of bevacizumab on female ovarian function and long-term fertility is still being documented. Current evidence for bevacizumab-associated decline in ovarian function is largely from breast and colon cancer cohorts where exposure to multimodal chemotherapy confounds causative relationships. Fertility counseling and oocyte cryopreservation is currently offered as standard of care to post-pubertal females at high risk of infertility due to high-dose radiation and chemotherapy. Adolescent females with low-grade CNS tumours on bevacizumab represent a unique population which could potentially be at high risk for infertility. We report 2 cases of adolescent girls treated with bevacizumab as a single agent and in combination with vinblastine for NF2-associated vestibular schwannomas and brainstem glioma respectively. Both patients were post-pubertal with established menstrual cycles and normal baseline FSH/LH/oestradiol/AMH values prior to commencement of therapy. They became amenorrhoeic shortly after starting of therapy with levels of FSH/LH/oestradiol suggestive of premature ovarian failure. One patient has remained asymptomatic, whereas the other has developed profound post-menopausal symptoms interfering with quality of life which necessitated commencement of hormone-replacement therapy. Appropriate pretreatment fertility investigation and consultation should be offered to all post-pubertal females starting on bevacizumab. Further research into the long-term effects of gonadal toxicity in both females and males with drugs inhibiting angiogenesis is needed.

Secondary amenorrhea is a menstrual cycle that occurs in women who have menstruated but does not increase menstruation within 3-6 months. The key to the menstrual cycle depends on changes in estrogen levels. Soybeans are the main source of phytoestrogens which play a role in stabilizing estrogen levels in the body, whereas 250 ml of soy milk contains 40 mg of phytoestrogens. The purpose of this study was to determine how to consume soy milk against changes in secondary amenorrhea in young women. This research is a descriptive-analytic conducted cross-sectionally. This type of research is an easy experiment with a non-randomized posttest group design. The research sample is young women who change secondary amenorrhea which is grouped into 2 groups of 17 people each. Data collection was conducted from August 2 to October 19, 2016. The statistical test used was the Wilcoxon test. The results showed that normal menstruation occurs in secondary amenorrhea adolescents after being given soy milk which is equal to 82.4% while in adolescents who are given sweetened condensed milk only by 29,4%. Statistical tests show the results of p= 0,002. The conclusion, there is a change in secondary amenorrhea between the samples gave soy milk, and those given sweetened condensed milk. Suggestions, it is necessary to provide a daily menu for students so that the menstrual cycle is maintained.

The Female Athlete Triad (Triad) is a medical condition of female athletes consisting of three components: low energy availability (EA), menstrual dysfunction (MD), and low bone mineral density (BMD). The prevalence of all three components of the Triad ranges from 1-14%. In last ten years, it has ranged from 1.3% up to 23% with 78% of female athletes having at least one of the three components of the Triad. The aim of this systematic review is to collect and analyze recent studies of the Female Athlete Triad. Based on an analysis of electronic databases and the inclusion criteria set, 20 studies were included in the analysis. The following conclusions are proposed based on their analysis: MD was the most prevalent among endurance athletes with ranges from 35.5% to 60.7%, with the presence of secondary amenorrhea and oligomenorrhea, 30% to 64.0% and 18% to 27.0% and with a very high level of cases with irregular menorrhea, 72.3%. Low/negative EA ranges from 19.8% among non-leanness athletes and up to 77%. The greatest proportion of athletes in moderate- and high-risk categories for expressing the Triad participated in sports that emphasize leanness, including cross-country, gymnastics running, and lacrosse. A recommendation for future research is that they should focus on enhanced monitoring of physically active women, and the prevention of the Triad, stress fractures and osteoporosis.

Background: Progestogen‑only injectable contraceptives (POICs) remain the most popular contraceptive method in Nigeria. Considering how widely used POICs are worldwide, there is little published evidence of their safety and effectiveness. There is also a paucity of research to determine associations between the influence of age and parity and the preferred choice of POICs in women.Aim: This study was to determine the use prevalence and the influence of age and parity on the preferred choice of POIC, and also the reasons for discontinuation among users of POICs at the family planning clinics of OAUTHC, Ile‑Ife.Materials and Methods: A retrospective record of 324 women who chose POICs out of a total of 1,029 clients seen at the family planning units of the hospital was collected for the period between January and December 2015. Information relevant to this study objectives was extracted using a purpose‑designed proforma. Data were analyzed with SPSS version 16, and results were presented as frequencies and percentages. Pearson Chi‑square test was used as test of significance where applicable and a P value < 0.05 was considered statistically significant.Results: The prevalence of POIC during the study period was 31.49%. Depo‑Provera (depot medroxyprogesterone acetate [DMPA]) was the most popular injectable preferred by the women. Age and parity had significant effects on the preferred injectable contraception with P values of 0.032 (CI 0.088‑0.099) and 0.002 (CI 0.009‑0.013), respectively, as younger clients with lower parity preferred Noristerat while preference for DMPA increased with age and parity. Majority (67%) did not experience any side effect; secondary amenorrhea was the most common side effect experienced by 27% of the clients. Only 34% continued with the method for the duration of study while 66% discontinued for different reasons.Conclusion: POICs are very effective and safe long‑acting reversible method of contraception. While DMPA may be the more popular overall choice, norethisterone enanthate (NET‑EN) is preferable in younger women of low parity.Keywords: Depoprovera; Ile-Ife; Noristerat

Background Mood disturbance has been described in women with menstrual abnormalities. Aims To access the prevalence of depression in patients with secondary amenorrhea (SA), and investigate the relationship between depressive scores and serum anti-Müllerian hormone (AMH) levels among these women. Methods Sixty-six women with SA completed the Centre for Epidemiological Studies-Depression Rating Scales (CES-D) and Hamilton-Depression Rating Scales (HAM-D) in a university hospital. Clinical and biochemical parameters were measured in all individuals, and their associations with depressive scores were analysed. Results Among the 66 patients with SA, 42 (63.6 per cent) were diagnosed with polycystic ovarian syndrome, followed by 14 patients (21.2 per cent) with unexplained chronic anovulation, and the remaining 10 (15.2 per cent) were identified as primary ovarian insufficiency or low ovarian reserve. In the analysis of CES-D Scales, 21 (31.8 per cent) women had scores indicative of depression. Serum AMH levels and antral follicle counts were lower in patients with depressive symptoms than those in patients without depressive symptoms. (4.76±4.77ng/ml vs. 10.49±7.52ng/ml (P=0.003), 10.67±6.20 vs. 14.78±7.35 (P=0.030), respectively). The CES-D and HAM-D scores also correlated negatively with serum AMH levels after adjusting age, body mass index and androgen level (γ=-0.429, P=0.001 and γ=-0.428, P=0.001). Conclusion This cross-sectional study showed that the prevalence of depression in SA patients was high and higher depressive scores were associated with lower serum AMH levels. This observation suggests that decreased AMH level may possibly be linked to a particular spectrum of depression in patients with SA.

Unlike many conditions in medicine, the classification of painful menstruation into primary and secondary dysmenorrhea is not based on the temporal appearance of symptoms or the condition, as it is in primary and secondary amenorrhea, or primary and secondary infertility. The taxonomy of primary and secondary dysmenorrhea is based upon the absence or presence (respectively) of clinically identifiable causes. In both cases, a great deal is known about the pathophysiology underlying the development of menstrual pain. It is, therefore, not an issue of a lack of identifiable causation; it is the lack of clinically identifiable processes that drive the assignment.

Background: Secondary amenorrhea is a condition when period cycle of women with irregular menstruation disappeared within six months in a row or; when the period cycle of regular menstruation women disappeared during three months in a row. In Traditional Chinese Medicine (TCM), amenorrhea is known as Jing Bi. The patient in this study case was having secondary amenorrhea with menstrual complaints not within 3 months and 22 days after the last periods. Patient was classified as secondary amenorrhea with differentiation of Qi and blood deficiency syndrome. Purpose: To know the effect of acupuncture therapy with Sanyinjiao point (SP6), Taichong point (LR3), Zusanli point (ST36), Gui lai point (ST 29) combined with turmeric herbal therapy (Curcuma domestica Val) and klabet seed (Trigonella foenum-graecum L.) in patients with secondary amenorrhea. Methods: Treatment of this secondary amenorrhea case was using acupuncture and herbal therapy. Acupuncture therapy at acupoint Sanyinjiao (SP6), Taichong (LR3), Zusanli (ST36), and Gui Lai (ST29) with tonification principle of Qi and blood and improve menstrual flow. The herbal therapy given were turmeric (Curcuma domestica Val) and fenugreek seeds (Trigonellafoenum-graecum L.), which has estrogenic effect. Results: Estrogen stimulates the lining of the uterus to remove the menstrual blood. In the treatment of secondary amenorrhea, acupuncture therapy was given 21 times, three times a week. Herbal therapy was given for 60 days, taken 2 times a day with dose of 15 grams of turmeric and 4 grams of fenugreek seeds. This therapy might help the menstrual blood exuviation. Conclusion: Acupuncture and herbal therapy can be applied continously to the patient up until regular period cycle are attained.

Premature ovarian insufficiency (POI) is a frequent pathology that affects women under 40 years of age, characterized by an early cessation of menses and high FSH levels. Despite recent progresses in molecular diagnosis, the etiology of POI remains idiopathic in most cases. Whole-exome sequencing of members of a Colombian family affected by POI allowed us to identify a novel homozygous donor splice-site mutation in the meiotic gene MSH4 (MutS Homolog 4). The variant followed a strict mendelian segregation within the family and was absent in a cohort of 135 women over 50 years of age without history of infertility, from the same geographical region as the affected family. Exon trapping experiments showed that the splice-site mutation induced skipping of exon 17. At the protein level, the mutation p.Ile743_Lys785del is predicted to lead to the ablation of the highly conserved Walker B motif of the ATP-binding domain, thus inactivating MSH4. Our study describes the first MSH4 mutation associated with POI and increases the number of meiotic/DNA repair genes formally implicated as being responsible for this condition. © The Author 2017. Published by Oxford University Press. All rights reserved.

The “resistant ovary syndrome” or “Savage syndrome” is a rare cause of hypergonadotropic hypogonadism, in which the ovaries are resistant to follicle-stimulating hormone (FSH), leading to a primary or secondary amenorrhea with high gonadotropin levels (FSH and Luteinizing hormone (LH)) despite a normal ovarian follicle pool.

Since the activity of the reproductive axis is quite complex and modulated and/or affected by several neurotransmitters, neuromodulators and hormones, it is easy to understand that minimal changes of the equilibrium of few of these substances might induce changes of the reproductive axis leading to the amenorrheic condition.

The principle objective of the present study was to investigate postnatal variants of Turner syndrome by cytogenetic study. Total of 1530 cases were referred to the researchers laboratory for cytogenetic analysis (karyotyping), out of which 61 cases of Turner syndrome (TS) diagnosed between March 2005 and January 2014. The most observed karyotype was classic 45,X (49.2 %) followed by iso(X) and iso(X) mosaic each (9.8 %) and least case of number one (1.6 %) was recorded with ring (Xr). Interestingly two cases of Robertsonian translocation t(13;14) were noticed which are considered to be rare. On the basis of clinical features of TS, such as primary or secondary amenorrhea with short stature, the confirmation was done by chromosomal analysis, karyotyping and FISH.

Based on the survey results of January - April 2017 aksetor number of injections 3 months in Midwives BPM "S" Curug Tangerang as many as 425 people. From the data obtained acceptor injections three months did not experience any side effects that 23%, and who experience side effects from injections of 3 months as many as 77%, consisting of amenorrhea were 75 %, which experienced a weight gain as many as 19.5%, and those with spoting 5.5%. The purpose of this research is to describe the characteristics of 3-month injectable acceptors with secondary amenorrhea by age, parity, KB long, long experienced menstrual disorders. The methodology in this paper uses descriptive method types. The place is BPM Midwives "S" Curug Tangerang. The study design used is Cross Sectional. With a population of 315 people. Large samples taken 76 respondents and retrieval techniques samplenya with "Non-Probability Sampling" method used was "accidental sampling". Data collected by the secondary data through medical records. Analysis of the data used univariate analysis. The results obtained are based on age, 76 more than half sebayak 56 people aged 20-35 (73.7%). Based on parity, more than half of the 76 acceptors grande multipara many as 48 people (63.1%). Based on the old family planning with a long of 76 half berKB ≥ 24 months as many as 41 people. Based on long experience disruption of 76 is less than half as many menstrual disorders 6-10 years as many as 31 people.

Objectives To describe the first case of premature ovarian failure with a reciprocal translocation between chromosomes 1 and 4 and to review all the related literature.Methods A 39-year-old multigravida woman with secondary amenorrhea consulted for evaluation. High-resolution chromosomal evaluation, sonographic images of the reproductive organs and assessment of endogenous hormone production were performed.Results We identified a de novo balanced translocation 46,XX, t(1;4)(p34.1;q34) in our premature ovarian failure patient without other abnormalities of reproductive organs.Conclusions Most of the cases of premature ovarian failure are associated with the X chromosome. To the best of our knowledge, only 23 cases of autosomal abnormalities associated with premature ovarian failure have been reported and our case was the first with translocation between chromosomes 1 and 4. The cause of late-onset premature ovarian failure in our case might be associated with the caspase-3 gene, which is located on...

The aim of this report was to define the best diagnostic and therapeutic approach when secondary amenorrhea is related to undiagnosed Asherman syndrome. We present a single case of secondary amenorrhea with a previous diagnosis of alterated hypothalamic-hypophysary regulation, with a component of ovarian function in probable reduction, which was evaluated in our department and resulted affected by Asherman's syndrome IV stage. We describe step by step the diagnosis and treatment of a previously misdiagnosed case of severe Asherman's syndrome. An appropriate diagnosis and adequate treatment are mandatory to allow menses and fertility to be restored when severe Asherman's syndrome occurs.