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Copyright of Folia Pharmaceutica Cassoviensia is the property of University of Veterinary Medicine & Pharmacy in Kosice and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background and objectives: Post-pubertal disappearance of menstrual cycles (secondary amenorrhea) associated with premature follicular depletion is a heterogeneous condition. Patients with this disease have low levels of gonadal hormones and high levels of gonadotropins. It is one of the causes of female infertility and a strong genetic component is attributed as an underlying cause of this condition. Although variants in several genes have been associated with the condition, the cause of the disease remains undetermined in the vast majority of cases. Methodology and Materials: Ten Saudi married women experiencing secondary amenorrhea were referred to a center for genetics and inherited diseases for molecular investigation. A family-based study design was used. Intensive clinical examinations, including pelvic ultra-sonography (U/S) and biochemical evaluations, were carried out. Karyotypes were normal in all cases and polycystic ovarian syndrome (PCOS) was excluded by using Rotterdam consensus criteria. Patients' DNA samples were whole-exome sequenced (WES). Bidirectional Sanger sequencing was then utilized to validate the identified candidate variants. The pathogenicity of detected variants was predicted using several types of bioinformatics software. Results: Most of the patients have a normal uterus with poor ovarian reserves. Exome sequence data analysis identified candidate variants in genes associated with POI in 60% of cases. Novel variants were identified in HS6ST1, MEIOB, GDF9, and BNC1 in POI-associated genes. Moreover, a homozygous variant was also identified in the MMRN1 gene. Interestingly, mutations in MMRN1 have never been associated with any human disease. The variants identified in this study were not present in 125 healthy Saudi individuals. Conclusions: WES is a powerful tool to identify the underlying variants in genetically heterogeneous diseases like secondary amenorrhea and POI. In this study, we identified six novel variants and expanded the genotype continuum of POI. Unravelling the genetic landscape of POI will help in genetic counselling, management, and early intervention. [ABSTRACT FROM AUTHOR]

Background: DICER1, a cancer predisposition syndrome (CPS), seems to escape timely diagnosis in pediatric patients. Case report 1: A 16-year-old female patient was referred to the endocrinology ward due to a large goiter. Her medical history indicated normal sexual maturation, with menarche occurring at 13.5 years. Over the past 2.5 years, she had developed pronounced androgenic symptoms, including a deepened male voice; facial, back, and neckline acne; hirsutism; and menstrual irregularities leading to secondary amenorrhea. A thyroid ultrasound identified a multinodular goiter (MNG) with cystic–solid lesions containing calcifications. An abdominal ultrasound identified a 5.7 × 6.9 cm solid mass in the right adnexal region, displacing the uterus to the left. Histopathological examination confirmed a Sertoli–Leydig cell tumor. The patient was subjected to a total thyroidectomy. Histopathology revealed benign follicular cell-derived neoplasms. Thyroid follicular nodular disease (TFND) was diagnosed bilaterally. DNA analysis using NGS, confirmed via the Sanger method, revealed a pathogenic heterozygotic variant c.2953C>T [p.Gln985*] in exon 18 of the DICER1 gene. Case report 2: A 12-year-old male patient was admitted to the pediatric surgery unit due to a 33 mL goiter. A month prior to his admission, the patient discovered a palpable nodule in his neck, accompanied by hoarseness. An ultrasound revealed MNG. Molecular analysis revealed a pathogenic heterozygotic variant c.2782C>T [p.Gln928*] in exon 17 of the DICER1 gene. Subsequently, a total thyroidectomy was performed, and histopathological examination revealed TFND bilaterally. Conclusions: Recent advances in genetic evaluation and in histological approaches indicate that MNG/TFND, although rare in the pediatric population, when accompanied by characteristic ultrasound and histopathological features, and by additional features such as androgenization, may warrant assessment also of the DICER1 gene within CPS molecular panel screening. [ABSTRACT FROM AUTHOR]

Copyright of Romanian Journal of Family Medicine / Revista Română de Medicina Familiei is the property of Media DOM Express and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Purpose: To provide characteristics and hormonal profiles of secondary amenorrhea cases in adolescent patients treated at Hasan Sadikin General Hospital in Bandung.Patients and Methods: The study was retrospective in nature and involved the analysis of medical records from 2017 to 2022 for 44 adolescent patients aged 10– 18 who had secondary amenorrhea.Results: There were 44 adolescents included in this study after excluded 69 adults from 113 secondary amenorrhea cases. The majority of patients were 14– 17 years old (38.63%), in senior high school (45.45%), had started menarche at 11 years old (45.45%), had normal nutritional status (65.91%), and had normal stature (65.91%). The underlying diseases found in most patients were systemic lupus erythematosus (SLE) and tuberculosis. Among the patients, 29 had FSH, LH, and estradiol levels measured. The results of hormonal assays showed a wide range of abnormal serum levels, with normal to low concentrations of FSH and low levels of LH and estradiol. The median (interquartile range) results for FSH, LH, and estradiol were 4.57 (0.64, 90.65), 1.635 (0.06, 55.76), and 24.3 (0.2, 154.71), respectively. Positive significant correlation between FSH and LH (p < 0.01) was found in children with secondary amenorrhea.Conclusion: Hormonal assay for FSH, LH, and Estradiol showed a wide range of abnormal serum level. Normal to low concentration levels of FSH and low LH and estradiol. The majority of secondary amenorrhea patients are associated with autoimmune disease and infection. [ABSTRACT FROM AUTHOR]

Background: Amenorrhea, the medical term for the absence of menstruation, can lead to infertility and, consequently, have profound societal implications. This case-control study aimed to investigate the association between hyperprolactinemia and thyroid hormone levels in individuals experiencing amenorrhea. Methods: We conducted hormonal evaluations on 50 UCMS hospital patients who had been diagnosed with secondary amenorrhea. Fifty-two women who were otherwise healthy served as controls. Cases and controls were analyzed for thyroid dysfunction and serum prolactin levels. Results: An intriguing revelation emerged from the study: patients exhibited notably higher average prolactin levels in their serum compared to the control group. When juxtaposing hyperprolactinemic and normoprolactinemic individuals, the former displayed marginally reduced average serum fT3 and fT4 levels, with comparable mean TSH levels across both groups (P=0.049). Prolactin's relationship with BMI, TSH, and age proved positive, while it conversely correlated with fT3, fT4, and chronological years. Moreover, hyperprolactinemic subjects experienced a negative correlation between prolactin and TSH (r=-0.115, P=0.481), normoprolactinemic counterparts displayed a positive correlation (r=0.296, P=0.126). Conclusions Assessing amenorrhea diagnostically calls for measuring prolactin, fT3, fT4, and TSH levels, as the interplay of hyperprolactinemia and thyroid dysfunction could be key hormonal factors in the equation. [ABSTRACT FROM AUTHOR]

Background: Nearly 90% of all the hormone-producing ovarian tumours are sex cord-stromal tumours (SCSTs). The Ovarian fibroma is a hormonally inactive variant of SCST. It is composed of spindle, oval, round cells producing collagen and accounts for approximately 4% of all ovarian neoplasms. Amongst the other SCSTs, Inhibin B is an important tumour marker. It is a heterodimeric glycoprotein hormone that is secreted primarily by the granulosa cells of the developing follicles. High levels of Inhibin-B can hamper follicular recruitment, leading to amenorrhea in a reproductive age woman. Finding: In this case report, we describe a rare case of a reproductive age female presenting with secondary amenorrhea, having an Ovarian Fibroma, producing massive amounts of Inhibin B. Significance: Although some pathological variants of ovarian fibromas like cyst-adeno-fibroma and ovarian fibro-thecoma are known to secrete inhibin B, benign /pure ovarian fibromas rarely do so. [ABSTRACT FROM AUTHOR]

Vitamin D deficiency is considered a major public health problem worldwide and has been reported as having an association with depression. However, studies on the association between vitamin D deficiency and depressive symptoms in secondary amenorrhea (SA) patients are still scarce. This study examined the relationship between serum 25-hydroxyvitamin D (25(OH)D) levels and depressive symptoms among Korean women with SA. In this cross-sectional observational study, 78 patients with SA were initially recruited. Clinical and biochemical parameters, including serum 25(OH)D level, were measured. Data from 63 SA patients who met the study inclusion criteria and completed psychiatric assessments were finally analyzed. We analyzed their association with depression using a hierarchical regression model. The average serum 25(OH)D level was 34.40 ± 24.02 ng/mL, and 41.3% of the women with SA were vitamin D-deficient (<20 ng/mL). The total score of the Korean version of the Hamilton Depression Rating Scale (K-HDRS) was negatively related to serum 25(OH)D levels, free testosterone, and serum anti-Müllerian hormone (AMH) after adjusting for age and BMI (r = −0.450, p < 0.001; r = −0.258, p = 0.045; and r = −0.339, p = 0.006, respectively). Serum 25(OH)D levels and AMH levels were the most powerful predictors of depressive severity when using the K-HDRS in SA patients (β = −0.39, p < 0.005; β = −0.42, p < 0.005, respectively). This study showed that low serum 25(OH)D levels were associated with the severity of depressive symptoms in SA patients. This observation suggests that the evaluation of vitamin D deficiency for the risk of depression may be necessary in patients with SA. [ABSTRACT FROM AUTHOR]

Premature ovarian insufficiency (POI) has a strong genetic component, but, in most cases, the etiology remains unidentified. PSMC3IP is an autosomal recessive gene for POI and ovarian dysgenesis, and so far, biallelic mutations in this gene have been described in only four independent families, with all affected members showing primary amenorrhea. Here, we report on the first family with recessive variants in the PSMC3IP gene and POI in a patient with secondary amenorrhea. Whole-exome sequencing (WES) was performed on a 29-year-old woman with secondary amenorrhea and POI; she was found to carry compound heterozygous variants in the PSMC3IP gene: c.206_208delAGA and c.189 G > T. Her younger sister, who also presented with a suspect of POI due to infertility and very low levels of anti-müllerian hormone (AMH), was found to carry the same PSMC3IP variants. Our case report shows the importance to include PSMC3IP in designed POI NGS panels or in WES/WGS studies in patients with either primary or secondary amenorrhea. [ABSTRACT FROM AUTHOR]

Menstrual cyclicity is a marker of health for reproductively mature women. Absent menses, or amenorrhea, is often the initial sign of pregnancy--an indication that the system is functioning appropriately and capable of generating the intended evolutionary outcome. Perturbations of menstrual regularity in the absence of pregnancy provide a marker for physiological or pathological disruption of this well-orchestrated process. New-onset amenorrhea with duration of 3 to 6 months should be promptly evaluated. Secondary amenorrhea can reflect structural or functional disturbances occurring from higher centers in the hypothalamus to the pituitary, the ovary, and finally, the uterus. Amenorrhea can also be a manifestation of systemic disorders resulting in compensatory inhibition of reproduction. Identifying the point of the breakdown is essential to restoring reproductive homeostasis to maintain future fertility and reestablish reproductive hormonal integrity. Among the most challenging disorders contributing to secondary amenorrhea is primary ovarian insufficiency (POI). This diagnosis stems from a number of possible etiologies, including autoimmune, genetic, metabolic, toxic, iatrogenic, and idiopathic, each with associated conditions and attendant medical concerns. The dual assaults of unanticipated compromised fertility concurrently with depletion of the normal reproductive hormonal milieu yield multiple management challenges. Fertility restoration is an area of active research, while optimal management of estrogen deficiency symptoms and the anticipated preventive benefits of hormone replacement for bone, cardiovascular, and neurocognitive health remain understudied. The state of the evidence for an optimal, individualized, clinical management approach to women with POI is discussed along with priorities for additional research in this population. [ABSTRACT FROM AUTHOR]

Primary ovarian insufficiency (POI) is one of the major causes of female infertility associated with the premature loss of ovarian function in about 3.7% of women before the age of 40. This disorder is highly heterogeneous and can manifest with a wide range of clinical phenotypes, ranging from ovarian dysgenesis and primary amenorrhea to post-pubertal secondary amenorrhea, with elevated serum gonadotropins and hypoestrogenism. The ovarian defect still remains idiopathic in some cases; however, a strong genetic component has been demonstrated by the next-generation sequencing (NGS) approach of familiar and sporadic POI cases. As recent evidence suggested an oligogenic architecture for POI, we developed a target NGS panel with 295 genes including known candidates and novel genetic determinants potentially involved in POI pathogenesis. Sixty-four patients with early onset POI (range: 10–25 years) of our cohort have been screened with 90% of target coverage at 50×. Here, we report 48 analyzed patients with at least one genetic variant (75%) in the selected candidate genes. In particular, we found the following: 11/64 patients (17%) with two variants, 9/64 (14%) with three variants, 9/64 (14%) with four variants, 3/64 (5%) with five variants, and 2/64 (3%) with six variants. The most severe phenotypes were associated with either the major number of variations or a worse prediction in pathogenicity of variants. Bioinformatic gene ontology analysis identified the following major pathways likely affected by gene variants: 1) cell cycle, meiosis, and DNA repair; 2) extracellular matrix remodeling; 3) reproduction; 4) cell metabolism; 5) cell proliferation; 6) calcium homeostasis; 7) NOTCH signaling; 8) signal transduction; 9) WNT signaling; 10) cell death; and 11) ubiquitin modifications. Consistently, the identified pathways have been described in other studies dissecting the mechanisms of folliculogenesis in animal models of altered fertility. In conclusion, our results contribute to define POI as an oligogenic disease and suggest novel candidates to be investigated in patients with POI. [ABSTRACT FROM AUTHOR]

APS (autoimmune polyglandular syndrome) is defined as the coexistence of at least two kinds of endocrine autoimmune diseases. APS type 3 comprises autoimmune thyroid diseases and other autoimmune diseases but does not involve autoimmune Addison's disease. So far, APS-3 combined with isolated gonadotropin-releasing hormone (GnRH) reduction caused by the suspected autoimmune hypothalamic disease has not been reported. We recently received a 43-year-old woman with a one-year history of Graves' disease (GD) and a four-month history of type 1 diabetes presented with hyperthyroidism and hyperglycemia. After the GnRH stimulation test, she was diagnosed with secondary amenorrhea attributed to suspected autoimmune Hypothalamitis and APS type 3 associated with Graves' disease and Latent Autoimmune Diabetes (LADA). According to this case, the hypothalamus cannot be spared from the general autoimmune process. It is recommended to carry out the GnRH stimulation test when encountering APS patients combined with secondary amenorrhea. [ABSTRACT FROM AUTHOR]

This article provides an approach to amenorrhea and is intended for pre-clinical and clerkship medical students. Primary amenorrhea refers to the absence of menarche by 15 years or 3 years post thelarche while secondary amenorrhea is the cessation of menses for 3 months inwomen with a previously regular cycle or for 6 months in women with previously irregular menses. While amenorrhea can be physiological it can also reflect an anatomical or more complex hormonal problem that students must learn to identify and investigate. [ABSTRACT FROM AUTHOR]

This is a pictorial review on the radiological approach to patients with amenorrhea using a level-based framework. The prevalence of amenorrhea is 3 to 4% with wide-ranging causes involving multiple clinical disciplines. Normal menstruation depends on complex coordinated hormonal functions of the hypothalamic–pituitary–ovarian axis exerting its effect on an intact uterine end-organ and outflow tract. A disruption of any of these factors may result in amenorrhea. Categorizing the causes of primary and secondary amenorrhea into uterine, ovarian/gonadal, and intracranial levels provides a logical framework for its evaluation. A systematic level-based approach by targeted ultrasound of the pelvic structures is suggested, with different aims in primary versus secondary amenorrhea. Pelvic sonographic findings of various conditions within the uterine and ovarian/gonadal levels are illustrated. Conditions due to an intracranial cause result in downstream effects on the uterus and ovaries and can often be suspected based on a combination of clinical assessment, ultrasound findings, and laboratory investigations. By correlating pelvic ultrasound findings with underlying pathology, the clinical radiologist is able to provide useful diagnostic information in the management of these patients. [ABSTRACT FROM AUTHOR]

Background: Menarche is an important milestone in a feminine reproductive life, and regular menstrual cycles reflect normal functioning of the hypothalamic-pituitary-ovarian axis, a vital sign of women's general health. Aim of the study: We explored the age at menarche and the following menstrual cycles characteristics among 85 unmarried Transfusion-Dependent ß-Thalassemia (TDT) women, born between 1965 and 1995, concerning iron chelation therapy (ICT) with desferrioxamine (DFO) and nutritional status, assessed by body mass index (BMI). Results: 53 adolescents who had begun ICT before the age of 10 years experienced menarche at 13,7 ± 1,6 years (mean ± DS), whereas 32 who began treatment after ten years experienced menarche significantly later (15.5 ± 1.9 yrs; p: 0.001). At the age of menarche: BMI-Z score (n= 67, - 0,09 ±1) was inversely correlated with both age at starting ICT (r = - 0,39; p = 0001) and age at menarche (- 0,45, p = 0,0001). Serum ferritin levels (SF) were significantly correlated with the age at starting chelation therapy (n = 79; r = 0,34; p = 0,022). In 56 TDT adolescents who developed secondary amenorrhea (SA), the SF levels were significantly higher (4,098 ± 1,907 ng/mL) compared to 23 TDT adolescents with regular menstrual cycles (2,913±782 ng/mL; p = 0,005). Nutritional status of "thinness" at menarche was associated with a lower prevalence of subsequent regular menstrual cycles and a higher prevalence of early SA. Conclusion: An early ICT in TDT patients was associated with a normal "tempo" of pubertal onset and a higher frequency of subsequent regular menstrual cycles. In TDT patients, who developed SA, a diagnosis of acquired central hypogonadism was made, mainly due to the chronic exposure to iron overload, however other potential causes linked to nutritional status, deficient levels of circulating nutrients, and the chronic disease itself cannot be fully excluded. [ABSTRACT FROM AUTHOR]

Secondary amenorrhea is not uncommon in the adolescent female population. There are multiple etiologies to consider, and a comprehensive evaluation is often pursued. Sometimes, however, despite a thorough workup, the diagnosis remains unclear. Here, we report an unusual cause of secondary amenorrhea in a 15-year-old girl. Our patient presented with secondary amenorrhea after a 4-year history of regular menstrual cycles. Her evaluation was notable for very low FSH and low estradiol but normal LH; pregnancy, adrenal, thyroid, prolactin studies, and brain magnetic resonance imaging scan did not reveal a cause of her amenorrhea. Her transabdominal ultrasound showed an enlarged right ovary, initially suggestive of a hemorrhagic cyst. Inhibin A and B were measured because of the persistently low FSH; these were found to be very elevated, concerning for an inhibin-producing tumor. The patient had surgical removal of her right ovary; pathology revealed a juvenile granulosa-cell tumor. Postoperatively, the patient had normalization of serum inhibin A and B and resumption of normal menstrual cycles. This report illustrates that careful consideration of laboratory findings and other studies is essential for correctly identifying the underlying cause of secondary amenorrhea, particularly when the results are not consistent with common causes of this condition. [ABSTRACT FROM AUTHOR]

Objectives: In Japan, the prevalence of irregular menstrual cycles and its association with the frequency of night shifts have scarcely assessed. The present study aimed to evaluate the relationship between irregular menstrual cycles and the frequency of night shifts in Japanese female nurses. Methods: We conducted a cross‐sectional web‐based self‐administered questionnaire survey in 2019. An irregular menstrual cycle was defined as a cycle length of ≤21 days or ≥39 days at least a few times over the past year or amenorrhea for at least 3 months. We used Poison regression analysis with a robust error variance to calculate the prevalence ratios adjusted for age, body mass index, hospital size, and the department in which they worked. Results: A total of 1249 women were included, and 679 (54.4%) and 195 (15.6%) of them worked under two and three rotating shifts. The prevalence of irregular menstrual cycles was 24.8%, 37.4%, and 35.9% in the no night, two rotating, and three rotating shifts groups, respectively. While the frequency of night shifts had a dose‐responsive relationship with irregular menstrual cycles in the two rotating shifts group, it was not observed in the three rotating shifts group. However, the risk of work getting affected by dysmenorrhea or premenstrual symptoms increased in the three rotating shifts group. Conclusions: Over 30% of Japanese female nurses working under night shifts had irregular menstrual cycles. The high frequency of night shifts increased the risk of irregular menstrual cycles and secondary amenorrhea in the two rotating shifts group. [ABSTRACT FROM AUTHOR]

Copyright of Ginecología y Obstetricia de México is the property of Federacion Mexicana de Ginecologia y Obstetricia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Pediatric Endocrinology / Endokrynologia Pediatryczna is the property of Proqurat Andrzej Prokurat and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Pituitary insufficiency is an uncommon disorder. The most common cause is compression due to a pituitary mass. Other causes include inflammatory damage and vascular injury like postpartum pituitary apoplexy. Postpartum pituitary apoplexy, also known as Sheehan's syndrome, leads to hormonal deficiencies and causes postpartum amenorrhea, lactational failure, chronic hyponatremia, hypoglycemia, and loss of secondary sexual characters. Here we are discussing the clinical course of 15 female patients of panhypopituitarism. Most of them had a history of postpartum hemorrhage. Knowledge about this entity is essential as it is a treatable condition and ignorance could prove to be fatal. [ABSTRACT FROM AUTHOR]

We examined 11 women aged 19-26 years (mean age 22.5±3.5 years) with secondary amenorrhea complaining frequent urination over 1.5 years and repeatedly, but unsuccessful treated for overactive bladder and chronic cystitis. The rare cause of sustained urination disorders in young female patients of reproductive age was established: development of secondary amenorrhea caused by weight loss ('cosmetic' amenorrhea) with subsequent estrogene deficit and urogenital atrophy. Morphological examination of the bladder mucosa, an important clue to the diagnosis, helps to identify the true cause of dysuria, urogenital atrophy of the bladder mucosa, in secondary ('cosmetic') amenorrhea, and determine future course of etiopathogenic treatment of sustained dysuria in young women. The treatment is often effective in case of proper and timely diagnosis and the absence of irreversible changes. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Tuberculosis (TB) is a disease which can affect various organs, including human's genital organs such as the endometrium. Tuberculosis endometritis can cause clinical symptoms of secondary amenorrhea and infertility. Infertility in genital TB caused by the involvement of the endometrium. The case presentation is 33-year-old woman from dr. Saiful Anwar Public Hospital to consult that she has not menstruated since 5 years ago (28 years old). The diagnosis was done by performing a clinical examination until the diagnosis of secondary amenorrhea due to tuberculosis endometritis is obtained. A treatment by using category I of anti-tuberculosis drugs was done for 6 months, afterward an Anatomical Pathology observation found no signs of the tuberculosis symptoms. Based on that, patient, who was diagnosed to have secondary amenorrhea due to tuberculosis endometritis, has no signs of tuberculosis process after being treated by using category I of anti-tuberculosis drugs for 6 months. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of this study was to determine the fertility rates following treatment by means of the BEACOPP regimen (regular and escalated) (bleomycin, etoposide, doxorubicin, cyclophosphamide, vincristine, procarbazine, prednisone) as compared to the ABVD regimen (doxorubicin, vinblastine, dacarbazine, bleomycin) in Hodgkin lymphoma patients under the age of 40 at the time of treatment. Methods: A questionnaire was sent to 180 Hodgkin lymphoma (HL) patients. The questionnaire was composed of questions concerning reproduction and also menopausal and aging symptoms in females and males. The analyses were made using data collected from 123 patients (76 females and 47 males) who returned the questionnaire. All of the patients were treated between 1999 and 2012. Results: In comparing the ABVD and BEACOPP groups of female patients, the frequency of the therapy-induced amenorrhea and the restored menses following treatment were found to be significantly different statistically ( p = 0.002 and p = 0.012, respectively). The secondary amenorrhea statistically appeared more often in the BEACOPP group ( p = 0.003) while the cases of achieving pregnancy and having children after chemotherapy were not significantly different ( p = 0.630, p = 0.070, respectively). In comparing the ABVD and BEACOPP treatments in male patients, the only significant difference was in the number of artificially inseminated or in vitro pregnancies achieved in the BEACOPP and escalated BEACOPP group, p = 0.008 and p = 0.002, respectively. In total, 45.2 % of patients in the ABVD female group, 34.6 % in the BEACOPP female group, 52.6 % in the ABVD male group, and 33.3 % in the male BEACOPP group, respectively, of patients attempting conception post-therapy, had children after chemotherapy. Conclusions: Based on these high rates of childbirth following BEACOPP chemotherapy, we have concluded that intensified chemotherapy is not a definite predictor of reduced fertility in young HL patients. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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]

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]

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]

Copyright of Monatsschrift Kinderheilkunde is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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]

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]

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]

A 31-year-old woman with oligomenorrhea and primary infertility consulted for evaluation. A clinical investigation, sonographic imaging of the reproductive organs, and an assessment of endogenous hormone production were performed. During the initial visit, the ultrasound identified a “pseudogestational sac” (i.e. fluid [blood or secretions] in the uterine cavity Pregnancy was excluded by serum beta-HCG assessment, and after 3 weeks, spontaneous menstruation occurred. Serum follicle-stimulating hormone, AMH, and inhibin B levels confirmed premature ovarian insufficiency (POI). High-resolution chromosomal evaluation identified normal 46XX karyotype with double satellites on chromosome 15 (46XX, 15 pss). Two months later, our patient presented with typical symptoms of hypoestrogenism: hot flushes, night sweats, and dyspareunia. Chromosome 15 with double satellites was not considered to be clinically significant. No cases of POI in women with karyotype 46XX 15pss have been reported. By reporting a case of POI in an infertile woman with double satellites on the short arm of chromosome 15 (15pss), we consider that autosomal chromosomes polymorphism may have clinical significance, and we recommend that the genetic cause of POI be investigated more seriously. [ABSTRACT FROM PUBLISHER]

Purpose: Pubertal onset and sexual development are usually normal in 47, XXX individuals; however, we report two cases of premature ovarian failure (POF) in infertile women with trisomy X. Methods: Chromosome analysis was conducted with G-banding and fluorescence in situ hybridization using X- and Y-bearing probe. Hormonal administration was primarily Kaufmann's treatment or long-term estradiol treatment, followed by withdrawal bleeding from estrogen and progesterone. Results: Two patients with trisomy X, aged 31 (patient 1) and 27 years (patient 2), were diagnosed with POF due to hypergonadotropic hypogonadism. Their ovaries were small. Patient 1 had a FSH level of 44.6 mIU/ml and patient 2 had a FSH level of 74.6 mIU/ml. In patient 1, with Kaufmann's treatment, the FSH decreased to 13.5 mIU/ml; however, follicle growth did not occur following HMG stimulation. In patient 2, FSH did not decrease despite Kaufmann's treatment; therefore, she was given a GnRH agonist and her FSH level decreased to 7.1 mIU/ml. However, her ovaries never responded to HMG stimulation. Conclusion: We report on two patients with a 47, XXX karyotype who became infertile due to POF. We recommend that when a patient is diagnosed with trisomy X, the possibility of POF must be strongly considered. [ABSTRACT FROM AUTHOR]

Adult granulosa cell tumors (GCTs) are the most common type of ovarian sex cord tumors. Menstrual irregularity, menorrhagia, or even secondary amenorrhea is frequently observed in premenopausal women bearing GCTs with hormonal activity. We report herein a case of GCT in a patient presenting with secondary amenorrhea and serum luteinizing hormone elevation. A 28-year-old primigravid Japanese woman was admitted complaining of secondary amenorrhea of 2 years' duration. Pelvic examination, transvaginal ultrasonography, and magnetic resonance imaging demonstrated a left ovarian tumor 4 cm in diameter. Serum hormone assays revealed a follicle-stimulating hormone level of 4.8 mIU/ml, luteinizing hormone (LH) of 35.8 mIU/ml, estradiol of 24 pg/ml, progesterone of 1.6 ng/ml, and testosterone of 40 ng/dl. A left salpingo-oophorectomy was performed. The tumor was diagnosed as an adult-type GCT stage IIb (FIGO [International Federation of Obstetricians and Gynecologists], 1988). Spontaneous menstruation occurred soon after the surgery. Serum levels of LH also decreased to normal levels and showed cyclic changes during the menstrual cycle. Subsequently, the patient conceived and delivered a healthy female baby. The tumor recurred in the pelvis 50 months after the initial conservative surgery, with elevated serum LH levels of 36.0 mIU/ml and amenorrhea. The patient was treated by hysterectomy, right salpingo-oophorectomy, omentectomy, paraaortic and pelvic lymphadenectomy, and low anterior resection of the recto-sigmoid colon. Her hormone levels progressed to the postmenopausal state after this surgery. Although LH elevation in patients with GCT is rare and its mechanism is unknown, monitoring of serum LH may provide an additional tumor marker after conservative surgery in such patients. [ABSTRACT FROM AUTHOR]

Introduction. The ectopic cervical pregnancy represents the abnormal implantation and evolution of the zygote at the level of the cervical os. The incidence of the cervical pregnancy varies from 0.5% to 1% of the total of ectopic pregnancies. It is associated with a high potential of morbidity and mortality because of the histological structure and the topographic anatomy of the cervix. The early diagnosis in the first trimester of pregnancy, before the apparition of hemorrhage, is indispensable for the appropriate management, in order to avoid major complications. Methodology. We present the case of a 31-year-old patient, with 7 weeks of amenorrhea, diagnosed after a routine obstetrical examination with an ectopic cervical pregnancy. This study also incorporates anterior results referring to: ultrasonographic diagnosis of cervical pregnancy, its importance in early diagnosis, and the innovative modalities of treating this type of pathology. Results. The 31-year-old patient, primiparous, with a positive pregnancy test and with 7 weeks of amenorrhea, presents to the “Dr. I.A. Sbârcea” Clinical Hospital of Obstetrics and Gynecology, Brașov, for pregnancy confirmation. Transvaginal ecography revealed a gestational sac implanted at the level of the anterior wall of the cervix, under the internal orifice of the cervical os, under the level of the uterine arteries, which contained an embryo with CRL corresponding to 6 weeks and 4 days of amenorrhea, with fetal cardiac activity present. The patient was hospitalized, and manual vacuum aspiration and uterine curettage were carried out under transabdominal ultrasonographic guidance. The evolution after the intervention was favourable, and the patient was discharged. The percentage of complications of these pregnancies varies between 10% and 62%. In literature, the therapy with methotrexate, the histeroscopic treatment, vaginal hysterectomy and the tamponament with double balloon represent innovative therapeutic approaches to this pathology. Conclusions. Transvaginal ultrasonographic exam allows the early diagnosis of cervical pregnancies and allows the early intervention for avoiding severe complications. Ultrasonography also allows the differential diagnosis of cervical pregnancies with other pathologies, such as miscarriage, cervical tumors or degenerated cervical leiomyoma. [ABSTRACT FROM AUTHOR]

Highlights from the article: Reproductive hormone profiles of women with infertility and menstrual disorders: a retrospective study Generally the most important hormones measured are LH, FSH, Prolactin and a variety of steroid hormones such as Estrogens, Progesterones and Androgens. Frequency of different gynecological conditions was primary infertility 91 (39.74%), secondary infertility 61 (26.63%), oligomenorrhea 43 (18.78%) and secondary amenorrhea 34 (14.85%) (Fig. 1). No. of Condition Age (Years) %age Cases 18 - 24 24 26.37 Primary infertility 25 - 31 48 52.74 32 - 36 19 20.87 19 - 24 10 16.4 Secondary 25 - 31 32 52.45 infertility 32 - 38 19 31.14 14 - 23 23 53.48 Oligomenorrhea 25 - 31 14 32.55 32 - 40 06 13.95 14 - 24 09 26.47 Secondary 25 - 31 17 50.0 amenorrhea 32 - 38 08 23.52.

This is the case report of a girl who was diagnosed as having Ullrich-Turner mosaic at the age of 12 years. She had normal pubertal development and menarche at the age of 15 years. The patient had regular menstrual cycles for 12 months before developing secondary amenorrhea. She was started on estrogen/gestagen replacement therapy by her gynecologist. Several months later a prolactinoma was diagnosed by laboratory and imaging techiques. A second-generation dopamine agonist led to almost regular cycles. Therefore, even in patients with susceptibility to ovarian failure secondary amenorrhea necessitates thorough diagnostic investigation.Copyright © 1999 S.Karger AG, Basel [ABSTRACT FROM AUTHOR]