(Endocrinology AND Infertility, female)
- Genetics of Mitochondrial Dysfunction and Infertility. [Journal Article]
- CGClin Genet 2016 Oct 17
- Increasingly, mitochondria are being recognised as having an important role in fertility. Indeed in assisted reproductive technologies mitochondrial function is a key indicator of sperm and oocyte qu...
Increasingly, mitochondria are being recognised as having an important role in fertility. Indeed in assisted reproductive technologies mitochondrial function is a key indicator of sperm and oocyte quality. Here, we review the literature regarding mitochondrial genetics and infertility. In many multisystem disorders caused by mitochondrial dysfunction death occurs prior to sexual maturity, or the clinical features are so severe that infertility may be under-reported. Interestingly, many of the genes linked to mitochondrial dysfunction and infertility have roles in the maintenance of mitochondrial DNA or in mitochondrial translation. Studies on populations with genetically uncharacterised infertility have highlighted an association with mitochondrial DNA deletions, whether this is causative or indicative of poor functioning mitochondria requires further examination. Studies on the impact of mitochondrial DNA variants present conflicting data but highlight POLG as a particularly interesting candidate gene for both male and female infertility.
- Chlamydia Peritonitis and Ascites Mimicking Ovarian Cancer. [Journal Article]
- CRCase Rep Obstet Gynecol 2016; 2016:8547173
- Background. Pelvic inflammatory disease (PID) rarely results in diffuse ascites. Severe adhesive disease secondary to PID may lead to the formation of inclusion cysts and even pelvic peritoneal nodul...
Background. Pelvic inflammatory disease (PID) rarely results in diffuse ascites. Severe adhesive disease secondary to PID may lead to the formation of inclusion cysts and even pelvic peritoneal nodularity due to postinflammatory scarring and cause an elevation of serum CA-125 levels. The constellation of these findings may mimic an ovarian neoplasm. Case. We report a case of a 22-year-old female who presented with multiple pelvic cysts and diffuse ascites due to Chlamydia trachomatis infection. The initial gynecologic exam did not reveal obvious evidence of PID; however, a positive Chlamydia trachomatis test, pathologic findings, and the exclusion of other etiologies facilitated the diagnosis. Conclusion. Chlamydia trachomatis and other infectious agents should be considered in the differential diagnosis of a young sexually active female with abdominal pain, ascites, and pelvic cystic masses. Thorough workup in such a population may reduce the number of more invasive procedures as well as unnecessary repeat surgical procedures.
- Propofol-Related Infusion Syndrome in the Peripartum Period. [Journal Article]
- ARAJP Rep 2016; 6(4):e368-e371
- Background Propofol is a widely known, commonly used drug. Complications can occur with the use of this drug, including propofol-related infusion syndrome (PRIS). PRIS, in the obstetric population, h...
Background Propofol is a widely known, commonly used drug. Complications can occur with the use of this drug, including propofol-related infusion syndrome (PRIS). PRIS, in the obstetric population, has not been documented; however, we report a case of a patient who developed PRIS after an emergent cesarean delivery of a preterm infant. Case Study A 35-year-old multigravida woman presented complaining of leakage of fluid and decreased fetal movement. Her pregnancy was complicated by methadone maintenance therapy due to a history of opioid abuse. Complications after admission for prolonged monitoring and a prolonged fetal heart tone deceleration was noted with no recovery despite intrauterine resuscitation. An emergent cesarean delivery was performed using general anesthesia and endotracheal intubation after which she developed aspiration pneumonia. She was admitted to the intensive care unit and reintubation and sedation were required secondary to respiratory distress. Sedation was achieved using propofol infusion. She subsequently developed changes in her electrocardiogram, an increase of her serum creatinine, creatinine protein kinase, lipase, amylase, and triglycerides, making the diagnosis of PRIS. Conclusion PRIS should be included in the differential diagnosis of intubated or postoperative patients in the obstetric population.
- Retirement Age Ranges from Clinical Practice of Maternal-Fetal Medicine Physicians. [Journal Article]
- AJAm J Perinatol 2016 Oct 12
- Objectives Retirement of "baby boomer" physicians is a matter of growing concern in light of the shortage of certain physician groups. The objectives of this investigation were to define what constit...
Objectives Retirement of "baby boomer" physicians is a matter of growing concern in light of the shortage of certain physician groups. The objectives of this investigation were to define what constitutes a customary retirement age range of maternal-fetal medicine (MFM) physicians and examine how that compares with other obstetrician-gynecologist (ob-gyn) specialists. Study Design This descriptive study was based on American Medical Association Masterfile survey data from 2010 to 2014. Data from the National Provider Identifier were used to correct for upward bias in reporting retirement ages. Only physicians engaged in direct patient care between ages 55 and 80 years were included. Primary outcomes involved comparisons of retirement ages of male and female physicians with other ob-gyn specialties. Results Interquartile ranges of retirement ages were similar between specialists in MFM (64.1-71.1), gynecologic oncology (62.1-68.9), reproductive endocrinology and infertility (64.1-71.7), and general ob-gyn (61.5-67.9). In every specialty, women retired earlier, while males in MFM were most likely to retire at the oldest age (median 70.0). Conclusion MFM physicians usually retired from clinical practice between ages 64 and 71 years, which is similar to other ob-gyn specialists. Females retired earlier, however, which may impact the overall supply as more females pursue MFM careers.
- Autoimmune estrogen dermatitis in an infertile female. [Journal Article]
- COCutan Ocul Toxicol 2016 Oct 11; :1-9
- Autoimmune estrogen dermatitis is a cyclical cutaneous eruption that occurs premenstrually and rapid resolution of the eruptions within a few days of menstrual cycles. The disorder has variable clini...
Autoimmune estrogen dermatitis is a cyclical cutaneous eruption that occurs premenstrually and rapid resolution of the eruptions within a few days of menstrual cycles. The disorder has variable clinical manifestations consisting of macules, papules, vesicles, urticarial lesions, bullae, eczematous plaques, and erythema multiforme-like lesions. Herein, we present a case of a 30-year-old woman with attacks of edema and erosions involving the oral and genital mucosal sites on every first day of her menstruation period. She has also multiple endocrinological problems such as hypotroidism and infertility. To determine the sex hormon sensitivity, intradermal skin tests were performed. Based on her personal history and skin test findings, a diagnosis of autoimmune estrogen dermatitis was made. After the oophorectomy she was free from the skin and mucosal symptoms. We propose that it is important to suspect the diagnosis of autoimmune estrogen dermatitis in patients who present with recurrent cylic eruptions and it must be kept in mind that these patients might have a concomitant infertility.
- Evaluation of Ovarian Reserve with AMH Level in Patients with Well-Differentiated Thyroid Cancer Receiving Radioactive Iodine Ablation Treatment. [Journal Article]
- ECExp Clin Endocrinol Diabetes 2016 Oct 6
- Introduction: Radioactive iodine (RAI) ablation treatment is used for patients diagnosed with well-differentiated thyroid cancer in order to reduce the risk of recurrence. RAI ablation treatment can ...
Introduction: Radioactive iodine (RAI) ablation treatment is used for patients diagnosed with well-differentiated thyroid cancer in order to reduce the risk of recurrence. RAI ablation treatment can adversely affect gonads in males and females. In this study, we aimed to determine ovary damage and infertility risk due to RAI, using serum anti-Müllerian hormone (AMH) level, in females who received RAI ablation treatment. Materials and Methods: 45 female patients who have not gone through the menopause and had received RAI ablation treatment for well-differentiated thyroid cancer in premenopausal period, and 40 healthy females as control groups were included in this study. The serum AMH, follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol (E2), thyroid stimulating hormone (TSH) and creatinine levels of the patients included in the study were analyzed and compared to those of the control group with similar demographical characteristics. Results: No differences were found between the patient group and control group in terms of age, height, weight, body mass index, LH, E2 and creatinine. The difference in AMH, FSH and TSH between both groups were found to be significant. There was no statistically significant relation between the age and AMH levels. Similarly, no statistically significant relation between RAI exposure duration and AMH levels was determined. When the patients below and above the age of 35 were compared with regard to AMH (2.95±1.79 and 2.75±1.94, respectively) and FSH (5.45±1.63 and 5.99±3.06, respectively), the difference between them was found to be statistically insignificant. Oligo/anovulation was detected in 7 patients (15.6% of the patient group) after RAI treatment, 8 (17.8%) patients became pregnant after RAI treatment, and none of the patients, who were actively trying to get pregnant, were unable to achieve it. Conclusion: According to these results, it may be concluded that low AMH levels due to RAI treatment can cause damage to the ovaries of patients; nevertheless, considering the AMH levels and the absence of infertility in the patients, the infertility risk was found to be low.
- Bmal1 is Required for Normal Reproductive Behaviors in Male Mice. [Journal Article]
- EEndocrinology 2016 Oct 5; :en20161620
- Circadian rhythms synchronize physiological processes with the light-dark cycle and are regulated by a hierarchical system initiated in the suprachiasmatic nucleus (SCN), a hypothalamic region that r...
Circadian rhythms synchronize physiological processes with the light-dark cycle and are regulated by a hierarchical system initiated in the suprachiasmatic nucleus (SCN), a hypothalamic region that receives direct photic input. The SCN then entrains additional oscillators in the periphery. Circadian rhythms are maintained by a molecular transcriptional feedback loop, of which BMAL1 is a key member. Disruption of circadian rhythms by deletion of the BMAL1 gene (Bmal1 KO) induces a variety of disease states, including infertility in males, due to unidentified mechanisms. We find that, despite normal sperm function, Bmal1 KO males fail to mate with receptive females, indicating a behavioral defect. Mating is dependent on pheromone detection, as are several other behaviors. We determined that Bmal1 KO males also fail to display aggression and avoidance of predator scent, despite intact main olfactory function. Moreover, the vomeronasal organ, a specialized pheromone-responsive organ, was also functionally intact, as determined by calcium imaging in response to urine pheromone stimulus. However, neural circuit tracing using c-FOS activation revealed that, while Bmal1 KO males displayed appropriate activation in the olfactory bulb and accessory olfactory bulb, the bed nucleus of the stria terminalis and the medial preoptic area (areas responsible for integration of copulatory behaviors), failed to activate highly in response to female scent. This indicates that neural signaling in select behavioral centers is impaired in the absence of BMAL1, likely underlying Bmal1 KO male copulatory defects, demonstrating the importance of the BMAL1 protein in the maintenance of neural circuits that drive pheromone-mediated mating behaviors.
- Premature Ovarian Insufficiency: New perspectives on genetic cause and phenotypic spectrum. [Journal Article]
- EREndocr Rev 2016 Oct 3; :er20161047
- Premature Ovarian Insufficiency (POI) is one form of female infertility, defined by loss of ovarian activity before the age of 40, and characterized by amenorrhea (primary or secondary) with raised g...
Premature Ovarian Insufficiency (POI) is one form of female infertility, defined by loss of ovarian activity before the age of 40, and characterized by amenorrhea (primary or secondary) with raised gonadotropins and low estradiol. POI affects up to 1 in 100 females, including 1 in 1000 before the age of 30. Substantial evidence suggests a genetic basis to POI, however, the majority of cases remain unexplained indicating there are likely genes associated with this condition yet to be discovered. This review discusses the current knowledge of the genetic basis of POI. We highlight genes typically known to cause syndromic POI that can be responsible for isolated POI. The role of mouse models in understanding POI pathogenesis is discussed, and a thorough list of candidate POI genes is provided. Identifying a genetic basis for POI has multiple advantages such as enabling the identification of pre-symptomatic family members who can be offered counselling and cryopreservation of eggs before depletion, enabling personalized treatment based on the cause of an individual's condition and providing better understanding of disease mechanisms which ultimately aid the development of improved treatments.
- Widespread DNA hypomethylation and differential gene expression in Turner syndrome. [Journal Article]
- SRSci Rep 2016 Sep 30; 6:34220
- Adults with 45,X monosomy (Turner syndrome) reflect a surviving minority since more than 99% of fetuses with 45,X monosomy die in utero. In adulthood 45,X monosomy is associated with increased morbid...
Adults with 45,X monosomy (Turner syndrome) reflect a surviving minority since more than 99% of fetuses with 45,X monosomy die in utero. In adulthood 45,X monosomy is associated with increased morbidity and mortality, although strikingly heterogeneous with some individuals left untouched while others suffer from cardiovascular disease, autoimmune disease and infertility. The present study investigates the leukocyte DNAmethylation profile by using the 450K-Illumina Infinium assay and the leukocyte RNA-expression profile in 45,X monosomy compared with karyotypically normal female and male controls. We present results illustrating that genome wide X-chromosome RNA-expression profile, autosomal DNA-methylation profile, and the X-chromosome methylation profile clearly distinguish Turner syndrome from controls. Our results reveal genome wide hypomethylation with most differentially methylated positions showing a medium level of methylation. Contrary to previous studies, applying a single loci specific analysis at well-defined DNA loci, our results indicate that the hypomethylation extend to repetitive elements. We describe novel candidate genes that could be involved in comorbidity in TS and explain congenital urinary malformations (PRKX), premature ovarian failure (KDM6A), and aortic aneurysm formation (ZFYVE9 and TIMP1).
New Search Next
- Direct vitamin D3 actions on rhesus macaque follicles in three-dimensional culture: assessment of follicle survival, growth, steroid, and antimüllerian hormone production. [Journal Article]
- FSFertil Steril 2016 Sep 24
- CONCLUSIONS: The addition of LVD3 increased preantral follicle survival and maintained AMH production by antral follicles, while HVD3 improved antral follicle growth. VD3 supplement promoted oocyte growth in in vitro-developed follicles. Direct actions of VD3 on the primate follicle appear to be both dose and stage dependent.