Turner's syndrome is characterized by an ovarian failure which occurs in most cases before puberty and leads to infertility. In less than 10% of women with Turner syndrome, puberty may occur and spontaneous pregnancies is possible but with a high risk of fetal loss, chromosomal and congenital abnormalities. We present the case of a 33-year-old woman with a mosaic Turner's syndrome karyotype 45,X/47,XXX who conceived spontaneously and had two successful pregnancies. Short stature was the only manifestation of Turner's syndrome. In the present report, we reviewed the available literature on the fertility of women with Turner's syndrome and the phenotypic effects of mosaicism for a 47,XXX cell line in Turner's syndrome.
When fetal ovarian cysts are detected, they should be followed up by serial ultrasonographic examinations. The majority of them will regress spontaneously in a period of 12 months after birth, independent of their sonographic findings. Only symptomatic cysts or cysts with a diameter >5 cm, which do not regress or enlarge, should be treated.
BackgroundEndometrial carcinoma is the most distressing cause of abnormal vaginal bleeding. The intention of clinical management in the case of postmenopausal bleeding is to achieve an accurate diagnosis without overinvestigation.MethodWe studied the available literature on the diagnostic evaluation of postmenopausal women with vaginal bleeding, accentuating the most important aspects on this topic: the accuracy of sonography and endometrial biopsy in predicting endometrial hyperplasia and endometrial carcinoma.ResultsThe accuracy of the above tests in predicting endometrial hyperplasia and endometrial carcinoma is a subject of continuing debate. Μοreover, in the last decades, there has been an explosion of publications indicating that ultrasound may be useful in predicting endometrial pathology.ConclusionSince advanced endometrial carcinoma has been known to occur in cases without noticeable endometrial thickness on ultrasound, the clinician should beware of the diagnostic evaluation of postmenopausal women with vaginal bleeding.
These results indicate that primiparity, long labor, stress to the mother and fetus during labor and delivery, negative affects and high score of posttraumatic stress are risk factors for delayed lactogenesis.
Purpose MLH3, a MutL homolog protein in mammals playing a role in DNA mismatch repair, is associated with spermatogenesis and male infertility. The purpose of the present study was to investigate the association of the singlenucleotide polymorphism (SNP), rs 175080 in the MLH3 gene, with sperm parameters in a Greek population. Methods The study included 300 men of couples undergoing in vitro fertilization/intracytoplasmic sperm injection-embryo transfer (IVF/ICSI-ET) treatments (years 2011-2013). Genomic DNA was extracted from 300 peripheral blood samples, and conventional quantitative real-time PCR was performed for genotyping. Of them, 122 were from men used as Bcontrols^and 178 from men used as Bcases.^Allocation to the two groups was based on sperm concentrations (≥15 and <15 million/ml, respectively). Serum FSH, LH, estradiol, testosterone, and prolactin concentrations as well as sperm parameters were compared between three genotypes (GG, GA, and AA). Furthermore, the frequencies of these three genotypes were compared between Bcases^and Bcontrols.^R esults Anthropometric parameters and hormonal values did not differ significantly between the three genotypes. Significantly lower sperm concentrations were found in men with the AA genotype as compared to men with the GG and GA genotypes (p<0.001). The AA genotype had the lower progressive motility values as compared to the other two genotypes (p<0.05). Also, there was a significantly different distribution of the frequencies of the three genotypes between Bcases^and Bcontrols^(p<0.001). Conclusions It is suggested that the studied SNP in the MLH3 gene may be linked to oligozoospermia in Caucasian men of a certain area.
Arthrogryposis Multiplex Congenital (AMC) is a group of muscular, neurologic and connective tissue disorders, characterized by multiple severe joint contractures and decreased mobility. The incidence of this condition is 1/3000 births while the etiology is variable. Prenatal assessment of arthrogryposis has focused primarily on diminished fetal movement and the presence of joint contractures or skeletal deformities. These findings may not become evident until after 16-18 weeks' gestational age, subsequently, early prenatal diagnosis is difficult. Nowadays, modern ultrasound techniques and special sonographic markers help the clinicians with the prenatal detection of arthrogryposis in every gestational trimester.
Uterine sarcomas are rare and aggressive gynaecologic malignancies with poor prognosis, arising from myometrial or endometrial tissue. These rare cancers can be aggressive, and account for a greatly disproportionate amount of deaths from uterine cancers. The histological uterine sarcomas classification includes carcinosarcomas (malignant mesodermal mixed tumors), accounting for 40% of cases, leiomyosarcomas (40%) and endometrial stromal sarcomas (10-15%). Each group of these tumors presents differences in diagnosis, prognostic factors, treatment, and outcome. Uterine leiomyosarcomas typically affects women in their sixth decade of life, presenting with atypical symptoms such as abnormal uterine bleeding and abdominal pain. The optimal treatment of uterine leiomyosarcomas is surgery, including total abdominal hysterectomy and bilateral salpingooophorectomy. The aim of this study was to conduct a systematic review of the literature regarding the standard surgical procedure of uterine leiomyosarcomas and investigate whether lymphadenectomy affects the 5-year DSS, as well as other relevant clinical outcomes, in women with uterine leiomyosarcomas. For this purpose, MEDLINE, EMBASE, and the Cochrane Library databases were reviewed, and a critical account of the management strategies of these tumors is presented.
We performed an evaluation of ultrasound-guided transvaginal aspiration of ovarian cysts as a viable alternative to surgery in 104 reproductive and 17 postmenopausal women. One-hundred and twenty-one patients with a simple >4 cm diameter ovarian cyst, with a benign appearance on ultrasound as well as on clinical and blood examination, underwent transvaginal fine needle aspiration of the cyst under ultrasonographic control. One-hundred and four patients were of reproductive age and 12 were postmenopausal. Sixty women who were of reproductive age and in which OCP treatment was not contraindicated followed a six-month therapy with oral contraceptives after the intervention. In the group of patients of reproductive age under OCP treatment the cyst persisted in nine of the 60 women (recurrence rate 15%). In the other group of patients of reproductive age,under no OCP treatment, the recurrence rate was 47% (21 of the 44 women). In the group of postmenopausal patients, the cyst persisted in ten out of 17 cases (recurrence rate 58,9%). Transvaginal aspiration of ovarian cysts is a reliable alternative to surgery with many advantages such as excellent tolerance, low risk and cost of complications and recurrence. The OCP treatment after aspiration seems to increase the success rate of expectant management.
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