Clinicopathological features of premature ovarian insufficiency associated with chromosome abnormalities

PURPOSE: The aim of this study was to investigate the clinicopathological features of premature ovarian insufficiency (POI) associated with chromosomal abnormalities. MATERIALS AND METHODS: This was a retrospective study of POI patients with chromosomal abnormalities diagnosed between January 2009 and December 2017. The definition of POI is based on hypergonadotropinism of 40 or greater in follicle stimulating hormone (FSH) measurements at age 40 years or less. FSH was measured twice at least 4 weeks apart. Karyotyping using peripheral blood for chromosomal testing was conducted in all patients diagnosed with POI. We analyzed the clinical characteristics and genetic causes of patients who were diagnosed with POI. RESULTS: Forty patients were diagnosed with POI including 9 (22.5%) with identified chromosomal abnormalities. The mean age at diagnosis was 23.1±7.8 years (ranging between 14 and 39). Three patients did not experience menarche. The presenting complaints were short stature in one case, one case of amenorrhea with ambiguous external genitals, one case of infertility, and six related to menstruation such as oligomenorrhea or irregular rhythm. Turner syndrome was diagnosed in four cases, Xq deletion in one case, trisomy X in two cases, and 46,XY disorder of sexual development in two other patients. CONCLUSION: Patients diagnosed with POI carrying the same type of chromosomal abnormality manifest different phenotypes. The management protocol also needs to be changed depending on the diagnosis. A karyotype is indicated for accurate diagnosis and proper management of POI in patients, with or without stigmata of chromosomal abnormalities.

Differences in 25-hydroxy vitamin D and vitamin D-binding protein concentrations according to the severity of endometriosis / 대한생식의학회지

OBJECTIVE: To investigate serum 25-hydroxyl vitamin D (25(OH)D) and vitamin D-binding protein (VDBP) concentrations in women with endometriosis according to the severity of disease. METHODS: Women with mild endometriosis (n = 9) and advanced endometriosis (n = 7), as well as healthy controls (n = 16), were enrolled in this observational study. Serum total 25(OH)D concentrations were analyzed using the Elecsys vitamin D total kit with the Cobas e602 module. Concentrations of bioavailable and free 25(OH)D were calculated. Concentrations of VDBP were measured using the Human Vitamin D BP Quantikine ELISA kit. Variables were tested for normality and homoscedasticity using the Shapiro-Wilk test and Leven F test, respectively. Correlation analysis was used to identify the variables related to total 25(OH)D and VDBP levels. To assess the effects of total 25(OH)D and VDBP levels in the three groups, multivariate generalized additive modeling (GAM) was performed. RESULTS: Gravidity and parity were significantly different across the three groups. Erythrocyte sedimentation rate (ESR) and CA-125 levels increased as a function of endometriosis severity, respectively (p= 0.051, p= 0.004). The correlation analysis showed that total 25(OH)D levels were positively correlated with gravidity (r = 0.59, p< 0.001) and parity (r = 0.51, p< 0.003). Multivariate GAM showed no significant relationship of total 25(OH)D levels with EMT severity after adjusting for gravidity and ESR. However, the coefficient of total 25(OH)D levels with gravidity was significant (1.87; 95% confidence interval, 0.12–3.63; p= 0.040). CONCLUSION: These results indicate that vitamin D and VDBP levels were not associated with the severity of endometriosis.

Triploidy that escaped diagnosis using chromosomal microarray testing in early pregnancy loss: Two cases and a literature review

About 15% to 20% of all clinically recognized pregnancies result in spontaneous abortion or miscarriage, and chromosomal anomalies can be identified in up to 50% of first trimester miscarriages. Chromosomal microarray analysis (CMA) is currently considered first-tier testing for detecting fetal chromosomal abnormalities and is supported by the absence of cell culture failure or erroneous results due to cell contamination in pregnancy loss. Triploidy is a lethal chromosome number abnormality characterized by an extra haploid set of chromosomes. Triploidy is one of the most common chromosomal aberrations in first trimester spontaneous abortions. Here, we report two cases of triploidy abortion that were not detected using array comparative genomic hybridization-based CMA. The aim of this report was to remind clinicians of the limitations of chromosomal testing and the misdiagnosis that can result from biased test selection.

Partial molar pregnancy and coexisting fetus with Turner syndrome: Case report and literature review

Partial hydatidiform mole and coexisting fetus is a rare entity with antecedent high risk of maternal and fetal complications, and risk of persistent trophoblastic disease in later life. Here, we report a case of twin pregnancy with live fetus identified as 45,X and normal placenta and another partial mole. Ultrasound scan at 10 weeks showed a hydrops fetus with a focal area of multicystic placenta. The patient underwent chorionic villus sampling and amniocentesis for chromosomal analysis, and the result was 45,X. Based on these finding, the patient then underwent induced abortion. Pathological examination (immunohistochemical staining) of the placenta confirmed the partial mole. This report suggests that careful prenatal ultrasonography and appropriate karyotyping in a molar pregnancy and coexisting fetus enable early diagnosis and may be beneficial for prognosis.

Torsion of a parasitic myoma that developed after abdominal myomectomy

Iatrogenic parasitic myomas are rare. The condition is defined by the presence of multiple smooth-muscle tumorous nodules in the peritoneal cavity. This may be attributable to seeding of myoma particles during uterine surgery. The clinical course is usually indolent. The disease is often asymptomatic and is usually discovered only incidentally. A 38-year-old woman who had undergone abdominal myomectomy 7 months prior presented with acute abdominal pain and a huge pelvic mass. We performed exploratory laparotomy. A parasitic mass 17 cm in diameter with a twisted omental pedicle was identified. En bloc excision of the mass and omentum was performed, followed by total abdominal hysterectomy. Histopathological examination of multiple sections revealed features compatible with an infarcted leiomyoma. Thus, we present a very rare case of an iatrogenic, rapidly growing parasitic myoma complicated by omental torsion (which caused the acute abdominal pain). We also offer a literature review.

Pyometra in Elderly Patients and Its Clinical Characteristics

BACKGROUND: Pyometra should be treated with caution in elderly patients because it may indicate a malignancy in the post-menopausal period and can result in life-threatening complications such as septicemia or pan-peritonitis. METHODS: We retrospectively analyzed the clinical features of 30 patients aged ≥65 years who received treatment for pyometra between January 2010 and December 2014. RESULTS: The 30 patients (age: median, 74 years; range, 66-88 years) were evaluated. They presented with vaginal discharge (n=17), vaginal bleeding (n=8), abdominal pain (n=6), or fever (n=3). The most common accompanying systemic disease was hypertension (n=15), followed by diabetes mellitus (n=10). Of the 30 cases, seven were associ- ated with gynecologic malignancy (cervical cancers, n=3; endometrial cancers, n=3; and ovarian cancer, n=1); and 14, with gynecologic benign diseases (uterine myoma, n=5; cervical intraepithelial neoplasia, n=4; tubo-ovarian abscess, n=3; endometrial polyp, n=1; uterine prolapse, n=1). All the patients were treated with cervical dilatation and drainage. Fifteen patients underwent gynecologic surgery with antibiotic therapy, and 15 received empirical antibiotic treatment alone. Two women experienced spontaneous perforation of pyometra. Pyometra is considered a complication of benign and malignant gynecologic disease, until proven otherwise. CONCLUSION: In elderly patients with comorbidities, pyometra might induce severe complications such as pan-peritonitis or sepsis. Early accurate diagnosis is important to determine an appropriate individualized treatment to reduce morbidity and mortality.

Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: A prenatal diagnosis report

Distal limb deformities are congenital malformations with phenotypic variability and high genetic heterogeneity. Split hand/foot malformation, also known as ectrodactyly, is a congenital limb malformation characterized by a defect of the central rays of the hands and/or feet. Split hand/foot malformation with long-bone deficiency (SHFLD) is a rare condition related to a 17p13.3 duplication. Recently, genomic duplications encompassing BHLHA9 have been associated with SHFLD. We report a case of SHFLD presenting with campomelia of the right femur, bilateral agenesis of fibulae, bilateral club feet, and oligosyndactyly of the hands and feet, that was associated with a 17p13.3 duplication, as determined prenatally using array comparative genomic hybridization.

Analysis of increased nuchal translucency: Chorionic villi sampling and second-trimester level II sonography

PURPOSE: To assess the outcomes of increased fetal nuchal translucency (NT), to aid in prenatal counseling and management in our practice. MATERIALS AND METHODS: We retrospectively reviewed the medical records of patients who underwent first trimester fetal karyotyping using chorionic villi sampling (CVS) and second trimester level II sonography for a fetal NT thickness > or =3.0 mm between 11 weeks and 13 weeks 6 days' gestation, at Gyeongsang National University Hospital. Pediatric medical records and a telephone interview were used to follow-up live-born children. Exclusion criteria included incomplete data and CVS for other indications. RESULTS: Seventy cases met the inclusion criteria (median NT thickness, 4.7 mm; range, 3.0-16.1 mm). Twenty-nine cases (41.4%) were aneuploid. The prevalence of chromosomal defects increased with NT thickness: NT 3.0-3.4 mm, 16.7%; NT 3.5-4.4 mm, 27.3%; NT 4.5-5.4 mm, 66.7%; NT 5.5-6.4 mm, 37.5%; NT > or =6.5 mm, 62.5%. The most common karyotype abnormality was trisomy 18 (n=12), followed by trisomy 21 (n=9). In chromosomally normal fetuses (n=41), fetal death occurred in 2 cases (4.9%), and structural malformations were found in 11 cases (26.8%). In chromosomally and anatomically normal fetuses (n=28), one child had neurodevelopmental delay (3.6%). Twenty-eight infants who had a prenatal increased NT were alive and well at follow-up (40%). CONCLUSION: Outcomes of increased fetal NT might help inform prenatal counseling and management. The high prevalence of chromosomal defects associated with increased fetal NT implies that CVS should be performed in the first trimester, particularly considering the stress associated with an uncertain diagnosis.

A Case of Placenta Increta Successfully Treated with Methotrexate and Misoprostol / 대한주산의학회잡지

Placenta accreta is a rare complication of pregnancy with high rates of maternal morbidity and mortality. Although the incidence of placenta accreta was rare in the past, it is sharply rising as a result of the dramatic increases in the cesarean section rate. Hysterectomy is the most effective way to manage the placenta accreta in the majority of cases. While in many situations hysterectomy will remain appropriate, there are other management options available involving conservative approaches. In this article, we report our experience of a successful conservative treatment using methotrexate and misoprostol to a patient in whom the whole placenta was not detachable from the uterus due to placenta increta.

DHA and EPA Down-regulate COX-2 Expression through Suppression of NF-kappa B Activity in LPS-treated Human Umbilical Vein Endothelial Cells

Inflammatory processes of vascular endothelial cells play a key role in the development ofatherosclerosis. We determined the anti-inflammatory effects and mechanisms of eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) on LPS-treated human umbilical vein endothelial cells (HUVECs) to evaluate their cardioprotective potential. Cells were pretreated with DHA, EPA, or troglitazone prior to activation with LPS. Expression of COX-2, prostaglandin E2 (PGE2) and IL-6 production, and NF-kappaB activity were measured by Western blot, ELISA, and luciferase activity, respectively. Results showed that EPA, DHA, or troglitazone significantly reduced COX-2 expression, NF-kappaB luciferase activity, and PGE2 and IL-6 production in a dose-dependent fashion. Interestingly, low doses (10 micrometer) of DHA and EPA, but not troglitozone, significantly increased the activity of NF-kappaB in resting HUVECs. Our study suggests that while DHA, EPA, and troglitazone may be protective on HUVECs under inflammatory conditions in a dose-dependent manner. However there may be some negative effects when the concentrations are abnormally low, even in normal endothelium.

A case of primary amelanotic melanoma of the vagina / 대한산부인과학회지

Primary malignant melanoma of the vagina is extremely rare, accounting for 3% of all primary malignant tumor of the vagina and 0.3~1% of all malignant melanomas in the female. The amelanotic melanoma of the vagina showing no melanin granules on histological examination is exceedingly rare, accounting for only about 10% of all melanoma of the vagina. The amelanotic melanoma of the vagina is often difficult to differentiate from non-epithelial malignant tumor because of the minimal number of melanin granules. We describe a case of primary amelanotic melanoma of the vagina, which was initially suspected to be a non-epithelial malignant tumor, especially malignant peripheral nerve sheath tumor (MPNST), but was correctly diagnosed by HMB-45 antibody and S-100 protein immunohistochemical staining. So we present this case with a brief review of literature.

Uterine sarcoma: Clinical findings of 8 Cases / 대한산부인과학회지

OBJECTIVE: Uterine sarcoma is relatively rare tumor of mesodermal origin, and constitutes 2% to 6% of uterine malignancies. It is the most malignant group of gynecologic tumors and presents difficult problems in regard to diagnosis and management. The purpose of this study is to investigate the clinicopathologic findings and outcome of patients with uterine sarcoma. METHODS: From March 1990 to March 2004, 8 patients were evaluated with histologically proven uterine sarcoma at department of obstetrics and gynecology of Gyeongsang University Hospital for their clinical profiles and survival retrospectively. RESULTS: The age of patients with uterine sarcoma ranged 39 to 71, and the mean age was 58.4 years. The common presenting symptoms were abnormal uterine bleeding, abdominal pain and lower abdominal palpable mass. Using the FIGO classification: two patients had stage I, one patients had stage II, two patients had stage III, three patients had stage IV disease. Four patients were treated with surgery followed by postoperative adjuvant chemotherapy and/or radiotherapy, three patients were treated surgery alone, and one patient was treated with radiotherapy alone. Recurrences were revealed at two patients, and the sites were pelvis and brain. The mean duration of follow up was 25.1 months and the overall 2 years survival rate was 25%. The most common pathologic type of uterine sarcomas was leiomyosarcoma. MMMT (malignant mixed mullerian tumor) showed worse prognosis than LMS (leiomyosarcoma) or ESS (endometrial stromal sarcoma). CONCLUSION: Uterine sarcoma are aggressive tumors with a poor prognosis. Age and stage were significant prognostic factor. The primary treatment modality has been surgical resection. The role of adjuvant chemotherapy and radiotherapy have not get been clearly defined and further large scaled multicentric studies are needed.

A Case of Polycythemia Vera Presenting with Angina Pectoris without Coronary Artery Stenosis

The majority of ptients with ischemic heart disease such as angina pectoris and myocardial infarction have coronary atherosclerosis as a underlying cause. However, in unusual conditions such as variant angina, aortic valvular heart disease, hypertrophic cardiomyopathy, vasculitis, hypercoagulable states, coronary atherosclerosis is not the cause. Polycythemia vesa is a myeloproliferative disease characterized by infrequent thromboembolic complications such as ischemic heart disease. We report a case of polycythemia vera presenting with angina pectoris without coronary artery stenosis with the review of the literature.