- General and sex profile of women with partner affected by premature ejaculation: results of a large observational, non-interventional, cross-sectional, epidemiological study (IPER-F). [Journal Article]
- AAndrology 2018 Aug 17
- CONCLUSIONS: Female partners of PE patients present an increased prevalence of sexual distress, a reduced quality of sexual life, and an increased anxiety score when compared to women whose partners are not affected from PE.
- Refractory Hypoglycemia and Seizures as the Initial Presenting Manifestation of Empty Sella Syndrome. [Journal Article]
- CCureus 2018 Jun 13; 10(6):e2803
- An empty sella is reported to occur in 5.5%-23.5% of the population and is usually asymptomatic. It can be associated with endocrine disturbances. We report a 48-year-old woman who presented with ref...
An empty sella is reported to occur in 5.5%-23.5% of the population and is usually asymptomatic. It can be associated with endocrine disturbances. We report a 48-year-old woman who presented with refractory hypoglycemia, seizures, and shock that improved with levothyroxine, hydrocortisone, and octreotide. Investigations revealed central hypothyroidism, hypoprolactinemia, low gonadotropins, normal C-peptide and a primary empty sella. Case reports of Sheehan syndrome with or without empty sella causing hypoglycemia have been reported occasionally. Our patient had never become pregnant. She had experienced premature menopause and symptoms suggestive of hypothyroidism for many years (without treatment) before her emergency department admission for altered sensorium.
- Autosomal single-gene disorders involved in human infertility. [Journal Article]
- SJSaudi J Biol Sci 2018; 25(5):881-887
- Human infertility, defined as the inability to conceive after 1 year of unprotected intercourse, is a healthcare problem that has a worldwide impact. Genetic causes of human infertility are manifold....
Human infertility, defined as the inability to conceive after 1 year of unprotected intercourse, is a healthcare problem that has a worldwide impact. Genetic causes of human infertility are manifold. In addition to the chromosomal aneuploidies and rearrangements, single-gene defects can interfere with human fertility. This paper provides a review of the most common autosomal recessive and autosomal dominant single-gene disorders involved in human infertility. The genes reviewed are CFTR, SPATA16, AURKC, CATSPER1, GNRHR, MTHFR, SYCP3, SOX9, WT1 and NR5A1 genes. These genes may be expressed throughout the hypothalamic-pituitary-gonadal-outflow tract axis, and the phenotype of affected individuals varies considerably from varying degrees of spermatogenic dysfunction leading to various degrees of reduced sperm parameters, through hypogonadotropic hypogonadism reslting in pubertal deficiencies, until gonadal dysgenesis and XY and XX sex reversal. Furthermore, congenital bilateral absence of the vas deferens, as well as premature ovarian failure, have been reported to be associated with some single-gene defects.
- Up-To-Date Review About Minipuberty and Overview on Hypothalamic-Pituitary-Gonadal Axis Activation in Fetal and Neonatal Life. [Review]
- FEFront Endocrinol (Lausanne) 2018; 9:410
- Minipuberty consists of activation of the hypothalamic-pituitary-gonadal (HPG) axis during the neonatal period, resulting in high gonadotropin and sex steroid levels, and occurs mainly in the first 3...
Minipuberty consists of activation of the hypothalamic-pituitary-gonadal (HPG) axis during the neonatal period, resulting in high gonadotropin and sex steroid levels, and occurs mainly in the first 3-6 months of life in both sexes. The rise in the levels of these hormones allows for the maturation of the sexual organs. In boys, the peak testosterone level is associated with penile and testicular growth and the proliferation of gonadic cells. In girls, the oestradiol levels stimulate breast tissue, but exhibit considerable fluctuations that probably reflect the cycles of maturation and atrophy of the ovarian follicles. Minipuberty allows for the development of the genital organs and creates the basis for future fertility, but further studies are necessary to understand its exact role, especially in girls. Nevertheless, no scientific study has yet elucidated how the HPG axis turns itself off and remains dormant until puberty. Additional future studies may identify clinical implications of minipuberty in selected cohorts of patients, such as premature and small for gestational age infants. Finally, minipuberty provides a fundamental 6-month window of the possibility of making early diagnoses in patients with suspected sexual reproductive disorders to enable the prompt initiation of treatment rather than delaying treatment until pubertal failure.
- Induction of miR-15a expression by tripterygium glycosides caused premature ovarian failure by suppressing the Hippo-YAP/TAZ signaling effector Lats1. [Journal Article]
- GENEGene 2018 Aug 06
- Tripterygium glycosides (TGs) are chemotherapeutic drugs and immunosuppressant agents for the treatment of cancer and autoimmune diseases. We have previously reported that TGs induces premature ovari...
Tripterygium glycosides (TGs) are chemotherapeutic drugs and immunosuppressant agents for the treatment of cancer and autoimmune diseases. We have previously reported that TGs induces premature ovarian failure (POF) by inducing cytotoxicity in ovarian granulosa cells (OGCs). Hence, we report that TGs suppress the expression of the Hippo-YAP/TAZ pathway in murine OGCs in vitro and in vivo. We found that the expressions of miR-181b, miR-15a, and miR-30d, were elevated significantly in the POF. Luciferase reporter assays confirmed that miR-15a targets Lats1 through a miR-15a binding site in the Lats1 3'UTR. Overexpression of miR-15a in mOGCs not only inhibited proliferation and growth of mOGCs, but also induced aging of mOGCs. Western blot and qPCR analysis indicated that miR-15a suppresses the expression of the Hippo-YAP/TAZ pathway in mOGCs. When the exogenous miR-15a was expressed on mouse OGCs, it could elevate the cytotoxicity effect of TG on mOGCs. We conclude that tripterygium glycosides promote cytotoxicity, senescence, and apoptosis in ovarian granulosa cells by inducing endogenous miR-15a expression and inhibiting the Hippo-YAP/TAZ pathway.
- Anti-Müllerian hormone levels in patients with turner syndrome: Relation to karyotype, spontaneous puberty, and replacement therapy. [Journal Article]
- AJAm J Med Genet A 2018 Aug 08
- Most girls with Turner syndrome (TS) suffer from incomplete sexual development, premature ovarian failure, and infertility due to abnormal ovarian folliculogenesis. Serum anti-Müllerian hormone (AMH)...
Most girls with Turner syndrome (TS) suffer from incomplete sexual development, premature ovarian failure, and infertility due to abnormal ovarian folliculogenesis. Serum anti-Müllerian hormone (AMH) levels reflect the ovarian reserve in females, even in childhood. Thus, we aimed to assess serum AMH levels in girls with TS and its relation to karyotype, spontaneous puberty, and growth hormone (GH) therapy. Fifty TS were compared to 50 age- and sex-matched controls. All subjects were subjected to history, anthropometric assessment, Tanner pubertal staging and measurement of serum follicle stimulating hormone (FSH), luteinizing hormone (LH), estradiol (E2), and AMH. Karyotype results were obtained from patients' records. Serum AMH was measurable in 12 TS patients (24%). The lowest frequency of measurable AMH was in patients with a karyotype of 45,X. The measurable AMH was associated with spontaneous breast development (p = .003) and spontaneous menarche (p = .001). AMH correlated negatively with FSH (r = -.846, p = .000) and LH (r = -.83, p = .034). GH therapy increased the odds of having measurable AMH in TS girls (p = .002). In conclusion, AMH was associated with karyotype, spontaneous pubertal development, LH, and FSH in TS girls and may serve as a useful marker of ovarian function and ongoing follicular development in prepuberty.
- Multi-dose 5-Fluorouracil is highly toxic to growing ovarian follicles in mice. [Journal Article]
- TSToxicol Sci 2018 Aug 02
- With increasing improvements in cancer survival rates, it is critical to reduce the significant long-term side effects that afflict patients following treatment. For women, consequences of chemothera...
With increasing improvements in cancer survival rates, it is critical to reduce the significant long-term side effects that afflict patients following treatment. For women, consequences of chemotherapy-induced damage to the reproductive system include infertility and premature menopause, which adversely effects cognition, mood, cardiovascular, bone, and sexual health, and increases the risk of early mortality. These long-term effects impact patient's life quality and highlight a significant and on-going burden on the health system after treatment. However, the precise mechanisms through which chemotherapeutic agents induce ovarian damage and primordial follicle depletion remain to be characterised. Hence, preventing the development of effective pharmacological methods to preserve fertility and improve quality of life after treatment. The chemotherapeutic agent 5-Fluorouracil (5FU) is not deemed cytotoxic to the ovary, however risks to long-term fertility after multiple doses are not known. Therefore, we sought to evaluate the impact of three, weekly doses of 5FU treatment on the ovary. Using a mouse model enabled accurate histomorphometric analysis of follicle numbers and ovarian structure and function, to accurately assess cumulative impact of 5FU on the ovary. This study clearly demonstrated that multi-dose 5FU treatment resulted in dramatic and progressive atresia of growing follicles and a profound decrease in ovarian volume due to reduced corpus luteum counts. However, primordial follicle numbers were unaffected. Thus, 5FU is unlikely to cause permanent infertility when administered to women of pre-or reproductive age. Furthermore, this study suggests that depletion of the growing follicle population is insufficient to stimulate follicle activation and primordial follicle depletion.
- Reproductive health of female childhood cancer survivors. [Journal Article]
- GPGinekol Pol 2018; 89(5):280-286
- Current treatment schemes of childhood cancer are usually effective enough to enable successful management of the disease. With the high rates of survival, another problem arises because patients oft...
Current treatment schemes of childhood cancer are usually effective enough to enable successful management of the disease. With the high rates of survival, another problem arises because patients often suffer much later from side effects of the toxic therapy. A common complication caused by cancer treatment is impairment of the female reproductive system including dysfunction of the hypothalamus and hypophysis, the killing of gonadal cells, and uterine injury. This may lead to altered pubertal timing, gonadotropin insufficiency or deficiency, acute ovarian failure, premature ovarian insufficiency, sexual dysfunction, and complicated pregnancy. The severity of these side effects depends a lot on the patient's age at treatment and the particularities of their chemo- and/or radiotherapy regimens. While some types of cancer require aggressive treatment, and therefore negative side effects cannot be avoided, strategies which preserve the patient's reproductive potential are essential. Such strategies are more established in the treatment of adult women, however there are also promising opportunities in the treatment of pediatric oncology patients. Ovar-ian transposition is already widely applied before pelvic radiotherapy. Cryopreservation of ovarian tissue, cryopreservation and in vitro maturation of immature oocytes, or cryopreservation of mature oocytes when the patient's age is appropriate, have also shown to have promising results in pediatric patients. Concurrent combinations of several techniques can also be successful. Counselling of pediatric patients and their families is challenging, and the urgent commencement of anticancer therapies often discourages attempts to preserve the girl's reproductive system. Given that successful methods of fertility preserva-tion are already accessible, it is crucial not to leave this topic aside at the time of diagnosis.
- Molecular Genetics of Premature Ovarian Insufficiency. [Review]
- TETrends Endocrinol Metab 2018 Aug 02
- Premature ovarian insufficiency (POI) is highly heterogeneous in genetic etiology. Yet identifying causative genes has been challenging with candidate gene approaches. Recent approaches using next ge...
Premature ovarian insufficiency (POI) is highly heterogeneous in genetic etiology. Yet identifying causative genes has been challenging with candidate gene approaches. Recent approaches using next generation sequencing (NGS), especially whole exome sequencing (WES), in large POI pedigrees have identified new causatives and proposed relevant candidates, mainly enriched in DNA damage repair, homologous recombination, and meiosis. In the near future, NGS or whole genome sequencing will help better define genes involved in intricate regulatory networks. The research into miRNA and age at menopause represents an emerging field that will help unveil the molecular mechanisms underlying pathogenesis of POI. Shedding light on the genetic architecture is important in interpreting pathogenesis of POI, and will facilitate risk prediction for POI.
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- The role of AKT and FOXO3 in preventing ovarian toxicity induced by cyclophosphamide. [Journal Article]
- PlosPLoS One 2018; 13(8):e0201136
- Cyclophosphamide (CTX) has immunosuppressive effects and has been wildly used as one anti-cancer drug in clinical. Significant toxicity has been noticed particularly in the reproductive system. CTX p...
Cyclophosphamide (CTX) has immunosuppressive effects and has been wildly used as one anti-cancer drug in clinical. Significant toxicity has been noticed particularly in the reproductive system. CTX promotes the maturation of ovarian follicles, decreases follicular reserve, and ultimately lead to ovarian failure or even premature ovarian failure (POF). The placental extract (HPE) has been shown to have some beneficial impact on reproductive system; however, little is known regarding to the effect of HPE on protecting CTX-induced ovarian injury and the mechanism involved. Whether human placental extracts (HPE) has a protective effect on CTX-induced toxicity on ovarian was studied by using a CTX-induced ovarian injury animal model. The effects of HEP on histopathology, the number of atretic follicles, the weight of the ovary, serum hormone levels, and apoptosis in granulosa cells were studied in mice with CTX or control vehicle. Our results have demonstrated that HPE inhibited p-Rictor, reduced the expression of Bad, Bax and PPAR, and activated Akt and Foxo3a (increased their phosphorylation). Mice treated with HPE showed higher ovarian weight, lower number of atretic follicles, higher serum levels of the hormones E2 and progesterone, and lower apoptosis and serum levels of LH and FSH in granulosa cells, than that in the control animal group. Our data show that ovarian injury can be attenuated by HPE. HPE likely protects follicular granulosa cells from undergoing significant apoptosis and reduce atresia follicle formation, therefore, alleviates CTX-induced ovarian injury.