Amenorrhea Research Articles

The care of patients with secondary hypothalamic amenorrhoea.

Secondary hypothalamic amenorrhoea is a common menstrual disorder affecting women of reproductive age. In some cases, periods become absent due to prolonged stress on the body, caused by undereating, overexercising and psychological stress. Secondary hypothalamic amenorrhoea is often underdiagnosed and undertreated, and patients may be prescribed oral contraception, which can mask the problem. This article will mainly focus on lifestyle factors associated with this condition and its association with disordered eating.

Isolated Mayer–Rokitansky–Kuster–Hauser syndrome (MRKH): Case Report

Background:Mayer–Rokitansky–Kuster–Hauser syndrome (MRKH) is a rare complex of congenitalmalformations characterized by aplasia of the uterus and upper (two-thirds) vagina in a woman with normalovaries and fallopian tubes, secondary sexual characteristics and a 46XX karyotype. The clinical symptoms ofMRKH syndrome are usually primary amenorrhea but with normal thelarche and adrenarche, as well as sexualintercourse disorders and infertility.Case report:In this case, a 22-year-old nulliparous woman with a female phenotype and normal secondary sexgrowth presented with primary amenorrhea and difficulty in sexual intercourse. On internal examination, thelength of the vagina was 4 cm and the cervix was not palpable. Transvaginal ultrasound examination did not showa picture of the uterus, but both ovaries were normal size and there were several follicles. Diagnostic laparoscopyshowed bilateral ovaries with intact tubes, but no uterus.Conclusion: Women with MRKH syndrome usually have normal ovarian function and usually present withprimary amenorrhea. Treatment of MRKH syndrome must include sexological care of the patient and hispartner.6The American College of Obstetricians and Gynecologists (ACOG) recommends dilation therapy as firstlinetreatment and vaginoplasty surgery should be performed for patients who have failed dilation therapy.

Emotional-psychological concerns of Turner’s patients regarding social discrimination

IntroductionTurner syndrome characterized by total/partial and/or homogeneous/mosaic X chromosome monosomy is associated with various physical health concerns, including facial dysmorphism, short stature, infertility, and other organ defects such as heart, kidney, bone, skin, … as well as variable degrees of cognitive impairments. Besides, social skills, communication and relationships are usually disordered.ObjectivesThe aim of this study was to report social challenges of Turner syndrome particularly related to discrimination regarding physical and cognitive impairments.MethodsA retrospective analysis of clinic data and karyotypes were carried out for the patients diagnosed with Turner syndrome among patients who consulted at our genetic counselling at the medical University of Sfax, during the last two decades.Cytogenetic analysis were carried out using conventional methods and RHG banding with analysis of at least 20 metaphases and 3 karyotypes for each patient. Social challenges were recorded for each patient during pre-cytogenetic consultation and oriented questioning.ResultsWe identified 23 cases referred with a cytogenetic diagnosis of monsomy X. The karyotyping was indicated for dysmorphism, primary or secondary amenorrhea, female infertility and recurrent pregnancy losses. Homogeneous X chromosome monosomy was recorded in 13% of cases, whereas mosaic forms with and without structural X/Y abnormalities were more frequent (82%). The mean age of patients in the study was twenty years. When the 45,X population was the predominant one (56,5%), dysmorphism and primary amenorrhea were constant. In the mosaic forms, clinical traits of Turner syndrome were insignificant. Discrimination based on physical appearance, intellectual disability, and failure to conceive were the three types of social challenges revealed by patients of our study. Parents of Turner patients were also concerned at the psychological level. They in fact revealed their emotional distress face to stressful experiences of their children with Turner syndrome regarding the social discrimination they encountered particularly in schools.ConclusionsSocial challenges related to discrimination based on physical appearance, intellectual disability, and failure to conceive in Turner syndrome lead to depression, low self-esteem and anxiety.Disclosure of InterestNone Declared

A case series on Treatment of Secondary Amenorrhea cases with Soothaga thadai kudineer - a Siddha Herbal Decoction

Background: Secondary amenorrhea is an absence of menstrual bleeding in a woman in her reproductive period for consecutive three or more months except the periods of pregnancy, lactation (production of breast milk), under contraceptives (birth control) or menopause. It could be noted in 1 of 15 women during their reproductive period. The objective of the present study is to find the efficacy of Soothaga thadai kudineer a Siddha herbal preparation in the management of secondary amenorrhea. Methods: Study was conducted among the college students of Sri Sairam Siddha medical college and research centre (10 students) with the administration of above mentioned kudineer, for three days 165ml once a day. Results were observed and noted. Results: Administration of Soothaga thadai kudineer was found to be more effective in the treatment of secondary amenorrhea. In this study, we have noticed that 5 of the subjects attained pre-menstrual symptoms and other 5 showed positive results of menstruation with the free flow. Friedman test analysis, it reveals the Mean rank is high for Lower abdominal pain (5.95) followed by Back pain (4.55). Conclusion: This study reveals the positive effect of Soothaga thadai kudineer in the secondary amenorrhea and it can be prescribed as a medicine in the treatment of various gynaecological disorders which have secondary amenorrhea as a symptom. Further evaluation is needed.

Eating behaviours, menstrual history and the athletic career: a retrospective survey from adolescence to adulthood in female endurance athletes

AimTo evaluate differences in menstrual and pubertal history and trends in eating behaviours among women with and without a competitive sports background. Additionally, we investigated if menstrual history and eating...

Hypophyseninsuffizienz – das Einmaleins in Diagnostik und Therapie

Pituitary insufficiency is a partial or complete failure of secretion of one or more hormones from the pituitary gland. The pituitary gland is located in the hypophysial fossa of the sella turcica of the os sphenoidale and produces ACTH, LH, FSH, GH, TSH, and prolactin. Pituitary insufficiency can be caused by acute damage, such as secondary to traumatic brain injury. It can also be a result of chronic alterations, such as increasing tumor expansion.Pituitary insufficiency often presents with nonspecific symptoms (e.g. fatigue, listlessness, decreased performance, sleep disturbances, weight change) that leads to a challenging and sometimes delayed diagnosis. The symptoms correspond to the failure of the corresponding endorgans. Occasionally, symptoms such as a loss of libido, secondary amenorrhea or nausea in stressful situations are diagnostically indicative.Further clarification includes a clinical examination with endocrinological testing of the pituitary function. Alteration of pituitary hormone secretion can also occur physiologically as in pregnancy, depression or obesity. Substitution therapy of the failed corticotropic, thyrotropic and gonadotropic axis is corresponding to the therapy of a primary endorgan insufficiency. Adequate diagnosis and treatment of pituitary insufficiency is important, as this may prevent life-threatening crises such as an adrenal crisis.

Ovarian fibroma: A diagnostic dilemma

Introduction: Ovarian fibroma is a benign stromal tumor composed of spindle fibroblasts like cells that produce collagen. It is seen in perimenopausal and postmenopausal women and is seldom seen in women with the age of less than 30 years. Case description: A young lady presented with irregular menses and secondary amenorrhoea of 8 months with gradual distension of abdomen. Raised Ca-125 levels with CECT impression raised the suspicion of malignant right ovarian tumor. Staging laparotomy was done followed by right salpingo-ovariotomy. Histopathology with immunohistochemistry confirmed the diagnosis of ovarian fibroma. Conclusion: There are no specific markers for an accurate pre-operative diagnosis of an ovarian fibroma. Improved understanding of this entity is essential to prevent misdiagnosis and missing the diagnosis.

Premature ovarian insufficiency: an augmenting disorder in the growing female population

A primary ovarian abnormality such as absent menarche (primary amenorrhea) or early depletion of ovarian follicles/arrested folliculogenesis before the age of 40 is described as premature ovarian insufficiency (secondary amenorrhea). Itsprevalence is 1% and 0.1 % in women under 40 and 30 respectively. Common Symptoms include palpitations, excessive sweating, flushes, anxiety, depression, and fatigue. There could be a variety of causes, including chromosomal abnormalities, autoimmune diseases, infections, idiopathic diseases, iatrogenic diseases, and so on. Diagnosis is usually done based on the level of hormones like estradiol, Follicle Stimulating Harmone, and LuteinizingHarmone. Considering the complications of premature ovarian failure, it is necessary to educate the female population about this disorder. Hence, the Present review focuses on the etiology, symptoms, complications, diagnosis, and treatment of premature ovarian failure.

Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency

Background and Objectives: Combined pituitary hormone deficiency (CPHD) is a rare heterogeneous disease. It is characterized by the deficiency of growth hormone (GH) and shortage of at least one or more other hormones of the pituitary gland including thyroid-stimulating hormone (TSH), luteinizing hormone (LH), follicle-stimulating hormone (FSH), and prolactin. Rare pathogenic variants in nearly 30 genes have been identified as an underlying cause of CPHD pathogenicity. Among these genes, paired-like homeobox 1 (PROP1) has been reported to be the most common cause of CPHD. Materials and Methods: In the present study, we investigated a large family of Saudi origin with three adult sisters suffering from short stature in combination of secondary amenorrhea. Results: Whole-exome sequencing followed by Sanger sequencing shows a homozygous missense variant (NM_006261.5; c.211C > T; p.R71C) in the PROP1 gene segregating with the disease phenotype within the family. In silico analysis studies show that this variant is highly conserved among several orthologues and is predicted as likely pathogenic using various bioinformatics tools. Conclusions: Our finding presents the first Saudi familial case of autosomal recessive form of CPHD caused by the PROP1 variant.

Selected Genetic Factors Associated with Primary Ovarian Insufficiency

Primary ovarian insufficiency (POI) is a heterogeneous disease resulting from non-functional ovaries in women before the age of 40. It is characterized by primary amenorrhea or secondary amenorrhea. As regards its etiology, although many POI cases are idiopathic, menopausal age is a heritable trait and genetic factors play an important role in all POI cases with known causes, accounting for approximately 20% to 25% of cases. This paper reviews the selected genetic causes implicated in POI and examines their pathogenic mechanisms to show the crucial role of genetic effects on POI. The genetic factors that can be found in POI cases include chromosomal abnormalities (e.g., X chromosomal aneuploidies, structural X chromosomal abnormalities, X-autosome translocations, and autosomal variations), single gene mutations (e.g., newborn ovary homeobox gene (NOBOX), folliculogenesis specific bHLH transcription factor (FIGLA), follicle-stimulating hormone receptor (FSHR), forkhead box L2 (FOXL2), bone morphogenetic protein 15 (BMP15), etc., as well as defects in mitochondrial functions and non-coding RNAs (small ncRNAs and long ncRNAs). These findings are beneficial for doctors to diagnose idiopathic POI cases and predict the risk of POI in women.

An unusual association of type II Mayer-Rokitansky-Kuster-Hauser syndrome, turner mosaic syndrome and tubo-ovarian inguinal hernia– case report and review of literature

BackgroundHerniation of ovaries and Mullerian structures into inguinal canal is usually reported in infants and is rare among adults. We are presenting a rare case of Mullerian agenesis and Turner mosaic syndrome with tubo-ovarian inguinal hernia.Case presentationA 17-year-old girl presented with complaints of primary amenorrhea, phenotypical features of Turner syndrome with left inguinal hernia and severe hypertension. Baseline hormonal analysis was normal. Karyotype revealed Turner mosaic with 46XX (85%); 45XO (15%). MRI showed Mullerian agenesis with normally located right ovary in pelvis and left ovary prolapsed through deep inguinal ring into the canal of Nuck. Anti-hypertensives were started and patient optimized for surgery. Laparoscopic hernia repair and repositioning of left ovary into the pelvis was done. Patient had uneventful post-operative course and was discharged in stable condition on anti-hypertensive medication. Future reproductive issues and need of passive vaginal dilatation or vaginoplasty before marriage were explained to the patient and family.ConclusionThis is the first ever reported case with unusual association of atypical MRKH, Turner mosaic syndrome and tubo-ovarian hernia into the inguinal canal. The case emphasizes the need and importance of complete work up of these atypical cases as patients may have more than one cause of primary amenorrhea and complete evaluation is must before any medical or surgical intervention.

Clinical and Genetic Analyses of Two Unrelated 46, XX Girls with Combined 17α-Hydroxylase/17,20-lyase Deficiency from China.

The cytochrome P450 17α-hydroxylase (P450c17) enzyme, encoded by Cytochrome P450 Family 17 Subfamily A Member 1 (CYP17A1) gene, catalyzes both the 17a-hydroxylation and 17,20-lyase reactions required for the production of cortisol and sex steroids. 17α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive disease caused by homozygous or compound heterozygous mutations in CYP17A1 gene. 17OHD can be classified into complete form and partial form based on the phenotypes resulting from P450c17 enzyme defects of different severities. Here we report two unrelated girls diagnosed with 17OHD at the age of 15 and 16 respectively. Both patients presented with primary amenorrhea, infantile female external genitalia and absent axillary or pubic hair. Hypergonadotropic hypogonadism was detected in both patients. Besides, Case 1 showed undeveloped breast, primary nocturnal enuresis, hypertension, hypokalemia and reduced 17α-hydroxyprogesterone and cortisol levels, while Case 2 had growth spurt, spontaneous breast development, elevated corticosterone and decreased aldosterone. The chromosome karyotype for both patients was 46, XX. Clinical exome sequencing was used to detect the underlying genetic defect in the patients, and the potential pathogenic mutations were validated by Sanger sequencing of the patients and their parents. The homozygous p.S106P mutation of CYP17A1 gene detected in Case 1 has been reported previously. Although the p.R347C and p.R362H mutations have been reported separately before, their compound heterozygote was firstly identified in Case 2. Based on the clinical, laboratory and genetic findings, Case 1 and Case 2 were definitely diagnosed as complete and partial form of 17OHD respectively. Both patients received estrogen and glucocorticoid replacement therapy. Their uterus and breasts developed gradually, and first menstruation occurred. Hypertension, hypokalemia and nocturnal enuresis in Case 1 were relieved. In conclusion, we described a case of complete 17OHD accompanied by nocturnal enuresis for the first time. Moreover, we identified a new compound heterozygote (p.R347C and p.R362H) of CYP17A1 gene in the case with partial 17OHD.

Role of Hormonal alteration and FSHR genes polymorphism in development of primary amenorrhea of Upper Egyptians teenagers.

Role of Hormonal alteration and FSHR genes polymorphism in development of primary amenorrhea of Upper Egyptians teenagers.

Swyer’s Syndrome: Discordance between Genetic and Biological Sex - Case report

Swyer’s syndrome is a rare condition in which a disorder of the sex chromosomes produces a defective gonadogenesis with total absence of functional gonadal tissue, resulting in pure gonadal dysgenesis and discordance between genetic and biological sex. The gonads appear as rudimentary bands and the risk of developing gonadal tumors is significant. The etiology is not clear: one of the possible causes is the absence or mutations of the SRY gene located on the Y chromosome. This gene is considered to be the most important, although it is known that there are other genes involved in the cascade of sexual differentiation. This article reports the case of a 17-year-old female phenotype patient who was studied for primary amenorrhea and presented laboratory findings compatible with hypergonadotropic hypogonadism, 46XY karyotype, who was diagnosed with Swyer Syndrome.

CASE REPORT ON NON-FUNCTIONING PITUITARY ADENOMA PRESENTING WITH SHORT STATURE, DELAYED PUBERTY AND PRIMARY AMENORRHEA

Delayed puberty in girls is dened as lack of secondary sexual characteristics by the age of 13 years and absence of menarche by the age of 16 years or 5 years after onset of puberty indicates pubertal delay. Constitutional delay of growth and puberty (CDGP) is the most commonly encountered cause of delayed puberty in girls. Pituitary tumors are not very common in childhood and adolescence, and prevalence of up to 1 per million children has been reported. Non-functioning pituitary adenomas (NFPAs) are benign adenohypophyseal tumors not associated with clinical evidence of hormonal hypersecretion. Patients with NFPAs usually come to medical attention as a result of “mass effects” symptoms like headaches, visual disturbances, and/or cranial nerve dysfunction caused by lesions large enough to mechanically compress and damage surrounding structures. Other manifestations are hypopituitarism as a result of mass effect by the compression of the normal anterior pituitary, and hyperprolactinemia due to pituitary stalk deviation can also be present. Here is a case of 16 year old female adolescent with pituitary adenoma presenting with delayed puberty and primary amenorrhea with short stature.

AN ACCIDENTALLY DIAGNOSED CASE OF MAYER ROKITANSKI-KUSTER-HUSER SYNDROME

A non-dysmorphic eighteen-year girl presented in outpatient with chief complaints of cold, headache and was having primary amenorrhoea. On detail examination and imaging she was found to have atrophic uterus; and was eventually diagnosed as Mayer-Rokitanski-Kuster-Huser syndrome type 1.

Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants

BackgroundPremature ovarian insufficiency refers to the loss of ovarian function before 40 years of age. The etiology is heterogeneous, and genetic factors account for 20–25% of cases. However, how to transform genetic findings to clinical molecular diagnose remains a challenge. To identify potential causative variations for POI, a next generation sequencing panel with 28 known causative genes of POI was designed, and a large cohort of 500 Chinese Han patients was screened directly. Pathogenic evaluation of the identified variants and the phenotype analysis were performed according to monogenic or oligogenic variants.ResultsA total of 14.4% (72/500) of the patients carried 61 pathogenic or likely pathogenic variants in 19 of the genes in the panel. Interestingly, 58 variants (95.1%, 58/61) were firstly identified in patients with POI. FOXL2 harbored the highest occurrence frequency (3.2%, 16/500), among whom presented with isolated ovarian insufficiency instead of blepharophimosis-ptosis-epicanthus inversus syndrome. Moreover, luciferase reporter assay confirmed variant p.R349G, which account for 2.6% of POI cases, impaired the transcriptional repressive effect of FOXL2 on CYP17A1. The novel compound heterozygous variants in NOBOX and MSH4 were confirmed by pedigree haplotype analysis, and digenic heterozygous variants in MSH4 and MSH5 were firstly identified. Furthermore, nine patients (1.8%, 9/500) with digenic or multigenic pathogenic variants presented with delayed menarche, early onset of POI and high prevalence of primary amenorrhea compared with those with monogenic variation(s).ConclusionsThe genetic architecture of POI has been enriched through the targeted gene panel in a large cohort of patients with POI. Specific variants in pleiotropic genes may result in isolated POI rather than syndromic POI, whereas oligogenic defects might have cumulative deleterious effects on the severity of POI phenotype.

Effects of a training intervention tailored to the menstrual cycle on endurance performance, recovery and well-being in female recreational runners – A randomized-controlled pilot study

Effects of a training intervention tailored to the menstrual cycle on endurance performance, recovery and well-being in female recreational runners – A randomized-controlled pilot study

Mayer-Rokitansky-Küster-Hauser syndrome - a review based on recent advances in medicine

Introduction Meyer-Rokitanski-Küster-Hauser syndrome, also reffered to as Müllerian aplasia, is a congenital disorder characterized by agenesis or hypoplasia of the uterus and upper part of the vagina in female with normal female karyotype (46,XX). In these women the external genitalia have a normal structure and their internal endocrine organs function properly. Most often, this syndrome is diagnosed in adolescence due to primary amenorrhea. Material and methods This review was based on available data collected in the PubMed data base and Google Scholar data and published between 2011 and 2021. The research was done by looking through keywords such as:“Mayer-Rokitansky-Küster-Hauser syndrome”, “MRKH syndrome”, “uterine agenesis” and “primary amenorrhea”, "vaginal agenesis", "uterus transplantation". Conclusions Recent scientific achievements have shown how much can be changed in the lives of patients with MRKH syndrome. It should be remembered that this is a disease that needs treatment by specialists in many fields. Treatment should include not only medical side of problem but also should take care of psychical side of patients life. During the last 10 years several advances have been made in MRKH syndrome research, especially within the fields of genetics, non-surgical management, and uterus transplantation as the first available fertility treatment.

Distal Vaginal Atresia Combined with Unicornoate Uterus: A Case Report

Congenital absence of the vagina with variable uterine development known as Mullerian agenesis. We presented the case of a patient with distal vagina agenesis with presence of proximal vagina and functioning unicornoate uterus. A 13-year-old patient was referred to pelvic floor service due to primary amenorrhea and pelvic pain. She was diagnosed with the distal vaginal agenesis, functional unicornoate uterus and the ectopic right kidney. Rectoabdominal examination revealed segmental vaginal agenesis and a likely atretic cervix with a huge abdominopelvic mass of about 10 cm in size. On exploratory laparotomy, the bladder was completely dilated and the right kidney was ectopic and both kidneys had moderate hydronephrosis. On the left, a unicorn uterus containing blood and clot, and on the right, a non-functional rudimentary horn with a normal fallopian tube was seen. A neovagina was created by dissection of the space between the urethra hyatus and rectum in laparatomy. It is important to note that the patient may initially present with urinary symptoms and renal signs. Therefore, in the symptoms of urinary tract obstruction, mullerian anomalies should be considered.