-
International Journal of Molecular... Mar 2024MicroRNAs (miRNAs) are single-stranded, non-coding RNAs that regulate mRNA expression on a post-transcriptional level. Observational studies suggest an association of...
MicroRNAs (miRNAs) are single-stranded, non-coding RNAs that regulate mRNA expression on a post-transcriptional level. Observational studies suggest an association of serum miRNAs and polycystic ovary syndrome (PCOS), a common heterogeneous endocrinopathy characterized by hyperandrogenism (HA), oligo- or amenorrhea (OM) and polycystic ovaries. It is not known whether these miRNA profiles also differ between PCOS phenotypes. In this pilot study, we compared serum expression profiles between the four PCOS phenotypes (A-D) and analyzed them both in PCOS (all phenotypes) and in phenotypes with HA by quantitative-real-time PCR (qRT-PCR). The serum expression of miR-23a-3p was upregulated in phenotype B ( = 10) and discriminated it from phenotypes A ( = 11), C ( = 11) and D ( = 11, AUC = 0.837; 95%CI, 0.706-0.968; = 0.006). The expression of miR-424-5p was downregulated in phenotype C ( = 11) and discriminated it from phenotypes A, B and D (AUC = 0.801; 95%CI, 0.591-1.000; = 0.007). MiR-93-5p expression was downregulated in women with PCOS (all phenotypes, = 42) compared to controls ( = 8; = 0.042). Phenotypes with HA (A, B, C; = 32) did not show differences in the analyzed expression pattern. Our data provide new insights into phenotype-specific miRNA alterations in the serum of women with PCOS. Understanding the differential hormonal and miRNA profiles across PCOS phenotypes is important to improve the pathophysiological understanding of PCOS heterogeneity.
Topics: Humans; Female; Polycystic Ovary Syndrome; Pilot Projects; Hyperandrogenism; MicroRNAs; Phenotype
PubMed: 38542179
DOI: 10.3390/ijms25063205 -
Life (Basel, Switzerland) Mar 2024Hyperandrogenism is a condition in which the levels of androgen hormones in the blood are significantly increased and could be of an adrenal or ovarian origin. The... (Review)
Review
Hyperandrogenism is a condition in which the levels of androgen hormones in the blood are significantly increased and could be of an adrenal or ovarian origin. The adrenal androgens, normally secreted by the zona reticularis, are steroid hormones with weak androgen activity. The causes of hyperandrogenism are diverse and could be endogenous and exogenous. Androgen excess affecting different tissues and organs results in clinical features such as acne, hirsutism, virilization, and reproductive dysfunction such as oligomenorrhoea/amenorrhoea. Although androgen excess is rarely associated with adrenal tumours, it is important as it could be predictive of malignancy. A careful evaluation of the androgen pattern, also in patients with clear signs of hyperandrogenism, could be useful. Laboratory evaluation should focus on measuring total testosterone levels, followed by the estimation of other androgens such as dehydroepiandrosterone and androstenedione, and using visualisation procedures in the further management. The treatment of adrenal hyperandrogenism is eminently surgical, in consideration of the frequent malignant origin. The aim of this review is to elaborate and summarize the prevalence and clinical management of hyperandrogenism of an adrenal origin by describing the physiological mechanisms of adrenal androgen steroidogenesis, the clinical manifestations of hyperandrogenism with a special reference to hyperandrogenism in adrenal adenomas and carcinomas, and the diagnostic methods that will lead us to establishing the correct diagnosis and different treatment options to manage this condition according to the clinical presentation of the patient.
PubMed: 38541685
DOI: 10.3390/life14030360 -
PloS One 2024Observational data suggest lower HIV risk with norethisterone enanthate (NET-EN) than with depo-medroxyprogesterone acetate intramuscular (DMPA-IM) injectable... (Randomized Controlled Trial)
Randomized Controlled Trial
Effects of injectable contraception with depot medroxyprogesterone acetate or norethisterone enanthate on estradiol levels and menstrual, psychological and behavioral measures relevant to HIV risk: The WHICH randomized trial.
BACKGROUND
Observational data suggest lower HIV risk with norethisterone enanthate (NET-EN) than with depo-medroxyprogesterone acetate intramuscular (DMPA-IM) injectable contraceptives. If confirmed, a switch between these similar injectable methods would be programmatically feasible and could impact the trajectory of the HIV epidemic. We aimed in this paper to investigate the effects of DMPA-IM and NET-EN on estradiol levels, measures of depression and sexual activity and menstrual effects, relevant to HIV risk; and to ascertain whether these measures are associated with estradiol levels.
METHODS
This open-label trial conducted at two sites in South Africa from 5 November 2018 to 30 November 2019, randomized HIV-negative women aged 18-40 to DMPA-IM 150 mg intramuscular 12-weekly (n = 262) or NET-EN 200 mg intramuscular 8-weekly (n = 259). Data were collected on hormonal, behavioral and menstrual effects at baseline and at 25 weeks (25W).
RESULTS
At 25W, median 17β estradiol levels were substantially lower than at baseline (p<0.001) for both methods: 76.5 pmol/L (interquartile range (IQR) 54.1 to 104.2) in the DMPA-IM group (n = 222), and 69.8 pmol/L (IQR: 55.1 to 89.3) in the NET-EN group (n = 225), with no statistical difference between the two methods (p = 0.450). Compared with DMPA-IM, NET-EN users reported significantly less amenorrhoea, fewer sexual acts, fewer users reporting at least one act of unprotected sex, more condom use with steady partner, more days with urge for sexual intercourse, more days feeling partner does not love her, and more days feeling sad for no reason. We did not find a clear association between estradiol levels and sexual behavior, depression and menstrual effects. Behavioral outcomes suggest less sexual exposure with NET-EN than DMPA-IM. The strength of this evidence is high due to the randomized study design and the consistency of results across the outcomes measured.
CONCLUSIONS
Estradiol levels were reduced to postmenopausal levels by both methods. Secondary outcomes suggesting less sexual exposure with NET-EN are consistent with reported observational evidence of less HIV risk with NET-EN. A randomized trial powered for HIV acquisition is feasible and needed to answer this important question.
TRIAL REGISTRATION
PACTR 202009758229976.
Topics: Humans; Female; Medroxyprogesterone Acetate; Norethindrone; Contraception; Contraceptive Agents, Female; HIV Infections; Estradiol
PubMed: 38530848
DOI: 10.1371/journal.pone.0295764 -
The Pan African Medical Journal 2024In Morocco, the purpose of the National Cancer Prevention and Control Plan (PNPCC) is to decrease the incidence, mortality, and morbidity attributable to cervical cancer...
In Morocco, the purpose of the National Cancer Prevention and Control Plan (PNPCC) is to decrease the incidence, mortality, and morbidity attributable to cervical cancer (CC), including the general objective which is to improve women´s care by setting up an organized system for screening, early diagnosis and treatment of this disease, and as operational objectives an: 1) achievement of at least 30% of the annual coverage rate by cervical cancer (CC) screening; 2) achievement of at least 80% of the rate of participation in CC screening per screening cycle; 3) achievement of 100% of the treatment rate for precancerous lesions screened within the framework of the program. CC screening concerns all women aged 30 to 49 years old. Women who have already had CC and pregnant women from the 8 week of amenorrhea until the 6 week postpartum are excluded from the program. The screening test currently used is the naked eye inspection with acetic acid or visual inspection with acetic acid (VIA), which will be followed by a colposcopy exam and biopsy if a precancerous lesion is confirmed. The VIA is carried out at the level of urban and rural health centers, by a trained health professional. Knowing that the pap-smear test was widely used before. Thermo coagulation, also called: cold coagulation, is currently the main treatment for intraepithelial lesions (LIE) that are eligible for this treatment, and finally the national program has introduced anti-HPV vaccination within the national vaccination program (NPI).
Topics: Female; Humans; Pregnancy; Adult; Middle Aged; Uterine Cervical Neoplasms; Uterine Cervical Dysplasia; Morocco; Mass Screening; Colposcopy; Papanicolaou Test; Acetic Acid; Carcinoma in Situ; Early Detection of Cancer; Papillomavirus Infections
PubMed: 38524109
DOI: 10.11604/pamj.2024.47.13.40063 -
Middle East Journal of Digestive... Oct 2023Celiac disease is an autoimmune disorder resulting from gluten consumption in genetically predisposed individuals. The present study investigated the epidemiological,...
Celiac disease is an autoimmune disorder resulting from gluten consumption in genetically predisposed individuals. The present study investigated the epidemiological, endoscopic, and clinicopathological features of patients with celiac disease in the southern littoral of the Caspian Sea. 140 patients with celiac disease were interviewed and examined regarding demographic characteristics, clinical symptoms, and serologic, endoscopic, and pathological findings. 44 (31.4%) of the patients were male and 68.6% were female. The mean age of the patients at diagnosis was 27.13±13.4 years (ranging from 2 to 60 years). The most common gastrointestinal (GI) symptoms were bloating (47.8%), abdominal pain (47.1%) and diarrhea (30.7%), respectively. Also, 17 (12.1%) patients did not complain of any GI symptoms.18 (12.8%) patients had aphthous stomatitis, 10.7% had dermatitis herpetiformis, 3.6% suffered from itching without a rash, two (1.4%) mentioned psoriasis and one (0.7%) had lichen planus. 19 (19.7%) of the female patients complained of menstrual bleeding disorders, 4% mentioned infertility, and 2% experienced primary amenorrhea. The most common comorbid condition was hypothyroidism in 16 (11.4%) patients. The most common endoscopic finding was duodenal scalloping (37.25%). In addition, 7.8% of the patients had a normal endoscopic appearance. 43 (30.7%) patients were classified as Marsh IIIC, 25.7% Marsh IIIB, 17.8% Marsh IIIA, 12.8% Marsh II and 12.8% were classified as Marsh I. Since celiac disease can present with non-GI manifestations and the majority of our patients had Marsh III classification, it seems that celiac disease must be considered as a routine screening test in GI clinics, and also, it should be kept in mind as a differential diagnosis in other specialty fields.
PubMed: 38523893
DOI: 10.34172/mejdd.2023.355 -
Journal of Medical Case Reports Mar 2024Menstruation is a developmental milestone and usually marks healthy and normal pubertal changes in females. Menarche refers to the onset of first menstruation in a... (Review)
Review
INTRODUCTION
Menstruation is a developmental milestone and usually marks healthy and normal pubertal changes in females. Menarche refers to the onset of first menstruation in a female. The causes of primary amenorrhea include outflow tract abnormalities, resistant endometrium, primary ovarian insufficiency, and disorders of the hypothalamus, pituitary, or other endocrine glands. A rare variant of mullerian agenesis, which warrants an individualized approach to management, is presented here.
CASE REPORT
We present here the case of a 25-year-old Indian female with pain in the lower abdomen and primary amenorrhea. After a thorough history, clinical examination, imaging, and diagnostic laparoscopy, two small uteri, a blind upper half vagina, bilateral polycystic ovaries, and a blind transverse connection between the two uteri-a horseshoe band cervix-were detected, which confirmed the diagnosis of mullerian agenesis. There was evidence of adenomyosis in the mullerian duct element. This is a rare form of Müllerian abnormality with an unusual presentation.
CONCLUSION
Mullerian agenesis is the most common cause of primary amenorrhea with well-developed secondary sexual characteristics. There are various forms of mullerian agenesis. Most of the cases are managed by a multidisciplinary team. Rare variants warrant an individualized approach to management.
Topics: Female; Humans; Adult; Amenorrhea; Mullerian Ducts; 46, XX Disorders of Sex Development; Vagina; Congenital Abnormalities
PubMed: 38523311
DOI: 10.1186/s13256-024-04438-x -
Molecular and Cellular Endocrinology Jun 2024Premature ovarian insufficiency (POI) is characterised by amenorrhea associated with elevated follicle stimulating hormone (FSH) under the age of 40 years and affects...
RESEARCH QUESTION
Premature ovarian insufficiency (POI) is characterised by amenorrhea associated with elevated follicle stimulating hormone (FSH) under the age of 40 years and affects 1-3.7% women. Genetic factors explain 20-30% of POI cases, but most causes remain unknown despite genomic advancements.
DESIGN
We used whole exome sequencing (WES) in four Iranian families, validated variants via Sanger sequencing, and conducted the Acyl-cLIP assay to measure HHAT enzyme activity.
RESULTS
Despite ethnic homogeneity, WES revealed diverse genetic causes, including a novel homozygous nonsense variant in SYCP2L, impacting synaptonemal complex (SC) assembly, in the first family. Interestingly, the second family had two independent causes for amenorrhea - the mother had POI due to a novel homozygous loss-of-function variant in FANCM (required for chromosomal stability) and her daughter had primary amenorrhea due to a novel homozygous GNRHR (required for gonadotropic signalling) frameshift variant. WES analysis also provided cytogenetic insights. WES revealed one individual was in fact 46, XY and had a novel homozygous missense variant of uncertain significance in HHAT, potentially responsible for complete sex reversal although functional assays did not support impaired HHAT activity. In the remaining individual, WES indicated likely mosaic Turners with the majority of X chromosome variants having an allelic balance of ∼85% or ∼15%. Microarray validated the individual had 90% 45,XO.
CONCLUSIONS
This study demonstrates the diverse causes of amenorrhea in a small, isolated ethnic cohort highlighting how a genetic cause in one individual may not clarify familial cases. We propose that, in time, genomic sequencing may become a single universal test required for the diagnosis of infertility conditions such as POI.
Topics: Humans; Female; Adult; Male; Amenorrhea; Iran; Primary Ovarian Insufficiency; Mutation, Missense; Genomics; DNA Helicases
PubMed: 38521400
DOI: 10.1016/j.mce.2024.112212 -
Radiology Case Reports Jun 2024Uterine rupture is a serious and potentially life-threatening complication. It is commonly a complication that happens in the third trimester of pregnancy. Its...
Uterine rupture is a serious and potentially life-threatening complication. It is commonly a complication that happens in the third trimester of pregnancy. Its occurrence in early pregnancy is very rare. We report a case of a patient who presented with uterine rupture on a scarred uterus during the termination of pregnancy with misoprostol at 10 weeks' amenorrhea. In this case, we discuss the clinical warning signs, risk factors, and diagnostic methodology, and compare our approach with the literature.
PubMed: 38515767
DOI: 10.1016/j.radcr.2024.02.055 -
Journal of the American Heart... Mar 2024Exercise-associated secondary amenorrhea results in estrogen deficiency, which may lead to dysfunction in estrogen's normal cardioprotective pathways. Estrogen may be... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Exercise-associated secondary amenorrhea results in estrogen deficiency, which may lead to dysfunction in estrogen's normal cardioprotective pathways. Estrogen may be essential in a woman's endothelial adaptations to exercise. The objective of this review was to assess the association between secondary amenorrhea in physically active women and cardiovascular disease (CVD) risk.
METHODS AND RESULTS
A literature search was performed in January 2023 and updated in August 2023 of the Cumulative Index to Nursing and Allied Health Literature (EBSCOhost), Cochrane Library, Embase (Ovid), MEDLINE (Ovid), SPORTDiscus (EBSCOhost), and Scopus from inception to present with no date or language limitations. Citation chaining was done to screen for additional studies. Eight sources were searched for gray literature. Studies that compared physically active women with amenorrhea to physically active women with eumenorrhea aged 18 to 35 years with evidence of CVD, alterations to cardiovascular physiology, or CVD risks were included. Eighteen observational studies from 3 countries were included. Overall, the quality of evidence was good. A meta-analysis was performed. Physically active women with secondary amenorrhea had significantly lower estradiol, flow-mediated dilation, resting heart rate, systolic blood pressure, and diastolic blood pressure and higher total cholesterol, triglycerides, high-density lipoprotein, and low-density lipoprotein cholesterol.
CONCLUSIONS
Estrogen deficiency resulting from exercise-associated secondary amenorrhea in physically active women may impact cardiovascular physiology and certain CVD risk factors. The research in this area is observational; therefore, findings should be interpreted cautiously. However, as exercise-associated secondary amenorrhea is reversible and the primary prevention of CVD is important for public health, it may be important to treat secondary amenorrhea and restore estrogen levels.
Topics: Humans; Female; Cardiovascular Diseases; Amenorrhea; Triglycerides; Cholesterol, LDL; Estrogens
PubMed: 38497482
DOI: 10.1161/JAHA.123.033154 -
Journal of the West African College of... 2024Primary amenorrhoea due to Müllerian malformations is rare, with 1 in 4500 cases and 2%-8% of cases presenting as infertility. Obstructive Müllerian anomalies present...
Primary amenorrhoea due to Müllerian malformations is rare, with 1 in 4500 cases and 2%-8% of cases presenting as infertility. Obstructive Müllerian anomalies present as hematometra and hematocolpos during puberty. Timely surgical intervention is required to relieve acute pelvic pain and restore functional anatomy. A 15-year-old girl presented to OPD with complaints of severe pain in her lower abdomen and lower back for the last 2-3 weeks, not relieving on medication. She has not attained menarche and has been having cyclical pain and low backache for 7-8 days every month for the last year. Physical examination showed a suprapubic lump with vaginal agenesis. Magnetic resonance imaging revealed hematometrocolpos due to transverse vaginal septum and distal vaginal atresia. Pull-through vaginoplasty along with complete excision of transverse vaginal septum was performed. Vaginal dilator therapy was done after the healing of the sutures. In follow-up, the patient attained menstruation with a patent vagina. Obstructive Müllerian anomalies should be identified early by detailed clinical examination and targeted investigations to prevent long-term morbidity and infertility.
PubMed: 38486640
DOI: 10.4103/jwas.jwas_97_23