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1.

Objective

Residual ovarian syndrome (ROS) occurs after a hysterectomy in which one or both ovaries have been preserved and cause chronic pelvic pain, an asymptomatic pelvic mass, or dyspareunia. We present a case with classic symptoms and imaging and pathology findings, and review the treatment of residual ovarian syndrome.

Case report

A 35-year-old woman with a diagnosis of ROS.

Conclusion

Based on previous literature, almost 50% of patients with ROS require surgery for their symptoms. Treatment of ROS with gonadotropin-releasing hormone analogs or high dose progestogens may be helpful. However, there are limited data supporting the efficacy of pharmacologic therapy. Patients receiving pharmacologic therapy should be counseled about the limited data supporting the efficacy of this approach, the lack of a histologic diagnosis, and the risk of ovarian cancer in residual tissue.  相似文献   

2.

Objective

We report a 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features.

Case report

A 13-year-old girl was referred for genetic counseling of Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows. The girl also had mild intellectual disability, psychomotor developmental delay, speech disorder, high-arched palate, hypertelorism and mid-face hypoplasia. Cytogenetic analysis of the girl revealed a karyotype of 46,XX,del(18) (p11.2). The parental karyotypes were normal. Array comparative genomic hybridization analysis on the DNA extracted from the peripheral blood revealed a 13.93-Mb deletion of 18p11.32-p11.21 or arr 18p11.32p11.21 (148,993–14,081,858) × 1.0 [GRCh37 (hg19)] encompassing 52 Online Mendelian Inheritance in Man (OMIM) genes including USP14, TYMS, SMCHD1, TGIF1, LAMA1, TWSG1, GNAL and PTPN2. Polymorphic DNA marker analysis revealed a maternal origin of the deletion.

Conclusion

Females with Turner syndrome-like clinical features in association with intellectual disability, facial dysmorphism and psychomotor developmental delay should be suspected of having chromosome deletion syndromes.  相似文献   

3.

Study Objective

To identify clinical features associated with primary ovarian insufficiency (POI) and collect data on the evaluation and treatment received.

Design

Retrospective chart review. Data were abstracted on etiology of POI, history, laboratory evaluation, imaging results, return for clinical care, and treatment plans.

Setting

Urban children's hospital in Cincinnati, Ohio.

Participants

Fifty female patients, age 11-26?years, with initial presentation of POI between January 1, 2006 and December 31, 2015.

Main Outcome Measures

Etiology of POI, bone mineral density (BMD), laboratory evaluation, and services utilized at presentation.

Results

Three hundred thirty-one charts were reviewed, 71 with confirmed diagnosis of POI, and 50 with sufficient data for inclusion. Among the 50, 21 (42%) had Turner syndrome, 18 (36%) remained idiopathic, and 11 (22%) had another condition (eg, autoimmune polyglandular syndrome, galactosemia, etc). Thirty-six (72%) were karyotyped; in 14 (28%), 21-hydroxylase antibodies were measured; 32 (64%) underwent dual-energy x-ray absorptiometry BMD measures of lumbar spine. Eight of 50 patients (16%) reported fracture. Of these, at presentation, 4 (50%) had low BMD, and 2 (25%) had slightly low BMD. On initial spinal dual-energy x-ray absorptiometry, 9 of 32 (28%) had low BMD (Z-score?≤??2.0) and 7 of 32 (22%) were slightly low (?1.0 to ?1.9). All started estrogen therapy within 2?years of presentation. In follow-up, only 2 patients (4%) saw a mental health consultant for emotional support.

Conclusion

POI is a model of estrogen deficiency with most cases due to Turner syndrome or idiopathic causes. At presentation, many had low BMD and few were seen for psychological support as part of multidisciplinary care.  相似文献   

4.

Objective

To determine the safety and efficacy of radiofrequency ablation (RFA) for selective fetal reduction in complex monochorionic multiple pregnancies.

Materials and methods

From July 2011 to January 2015, data on all cases treated with RFA were collected prospectively in our hospital. Indications, procedure details, cause of fetal demise and pregnancy outcomes were analyzed. Sonography and magnetic resonance imaging were performed to detect fetal brain damage. Information regarding development after birth was collected according to the Gesell Development Schedule®.

Results

There were 22 cases of twins (6 presenting with twin-twin transfusion syndrome, 10 with malformations, 4 with selective intrauterine growth restriction, and 2 with twin reversed arterial perfusion sequence); and 11 cases of triplets (9 dichorionictriamniotic, 2 monochorionictriamniotic). All surgeries were completed with one puncture. No maternal complications presented during RFA procedure, and the PPROM rate before 32 w was 9% (3/33). There were 3 cases of intrauterine fetal demise and 4 twin cases where pregnancy was terminated. The fetal survival rate was 77% (17/22) in twins, 91% (20/22) in triplets. Total fetal survival rate was 84% (37/44). The neurodevelopmental follow-up investigations showed no abnormalities in any of the survivors.

Conclusion

RFA for selective fetal reduction in complex monochorionic multiple pregnancies is effective, minimally invasive, and safe.  相似文献   

5.

Objective

To determine the prevalence of etiologic causes of primary amenorrhea in Indian population.

Materials and methods

A retrospective study was performed using 102 complete medical records of women with primary amenorrhea who attended the Gynaecologic Endocrinology Clinic, Department of Obstetrics and Gynaecology, AIIMS, New Delhi from September 2012 to September 2015. Cases were analysed according to clinical profile, development of secondary sexual characteristics, physical examination, pelvic and rectal examination, X-ray of chest and lumbo-sacral spine, hormone profile, pelvic USG, MRI, and cytogenetic study including karyotype.

Results

The three most common causes of primary amenorrhea were Mullerian anomalies (47%), gonadal dysgenesis (20.5%), and hypogonadotropic hypogonadism (14.7%) in the present study. There were 3 cases of Turner syndrome (45,XO), 5 cases of Swyer's syndrome (46,XY) and 2 cases of Androgen insensitivity syndrome (46,XY). One case had pituitary macroadenoma and eight cases (7.8%) were of genital tuberculosis.

Conclusions

The present study has currently been the largest case series of primary amenorrhea from North India. Mullerian anomaly is the most prevalent etiological factor leading to amenorrhoea followed by gonadal dysgenesis in our study. Racial, genetic and environmental factors could play role in the cause of primary amenorrhea.  相似文献   

6.

Objective

To evaluate the clinical presentations, diagnosis, management, and outcomes of torsion of the pedunculated subserous uterine leiomyoma.

Materials and methods

We retrospectively reviewed medical records of patients with subserous uterine leiomyomas undergoing surgeries at National Taiwan University Hospital from January 2001 to December 2015.

Results

Five cases of torsion of pedunculated subserous uterine leiomyoma were identified. All presented with sudden onset abdominal pain. Two patients received emergent surgeries, the other three cases received scheduled surgeries. The postoperative courses of these five women were uneventful without sequelae.

Conclusions

Torsion of pedunculated subserous uterine leiomyoma is rare. Accurately diagnosing it prior to surgery is a major challenge. It should be one of the differential diagnosis in patients with uterine leiomyoma presenting with acute abdomen.  相似文献   

7.

Objective

We present digynic triploidy in a fetus with semilobar holoprosencephaly (HPE).

Case report

A 32-year-old, gravid 1, para 0, woman underwent prenatal ultrasound examination at 12 weeks of gestation, and the ultrasound showed relative macrocephaly, a small non-cystic placenta, and a fetus with absent nasal bone and semilobar HPE. The pregnancy was terminated subsequently, and a 50-g fetus was delivered with a relatively enlarged head and premaxillary agenesis. The placenta was small and non-cystic. Postnatal cytogenetic analysis of the umbilical cord revealed a karyotype of 69, XXX. Postnatal DNA marker analysis using quantitative fluorescent polymerase chain reaction assays and the polymorphic short tandem repeat markers for chromosome 18 and 20 on the placental tissues showed a diallelic pattern with a dosage of 1:2 (paternal allele to maternal allele ratio), indicating a maternal origin of the triploidy.

Conclusion

Fetuses with digynic triploidy may present relative macrocephaly, semilobar HPE and a small placenta on prenatal ultrasound.  相似文献   

8.

Objective

To compare the obstetric outcomes of triplet gestations managed by early fetal reduction to twins with those managed by prophylactic cervical cerclage in women conceived with assisted reproductive techniques (ART).

Materials and methods

Retrospective study of the pregnancy and neonatal outcomes of trichorionic triplet gestations achieved by ART and managed either by early transvaginal fetal reduction to twins (n = 53) or by prophylactic placement of cervical cerclage (n = 65).

Results

The pregnancy duration was significantly longer with fetal reduction and the incidences of delivery before 34 and 32 weeks gestational age were significantly lower with fetal reduction. Both miscarriage and live birth rates were comparable in the two groups. The incidences of very low birth weight (VLBW), neonatal respiratory distress syndrome (RDS), admission to neonatal intensive care unit (NICU) and early neonatal death (END) were significantly lower with fetal reduction.

Conclusion

Early transvaginal reduction of triplets to twins leads to improved obstetric outcomes as it decreases prematurity and its related neonatal morbidities and mortality without increase in the miscarriage rate. Early fetal reduction seems to be better than continuation of triplet pregnancies with prophylactic placement of cervical cerclage.  相似文献   

9.

Objective

Spontaneous pneumothorax combined with thoracic endometriosis is a rare condition during pregnancy. We present a case of chemical pleurodesis with autologous blood and freeze-dried concentrated human thrombin during pregnancy.

Case report

This report presents a case of spontaneous pneumothorax combined with thoracic endometriosis that arose at 22 weeks' gestation in a 35-year-old female. The initial chest drainage was unsuccessful. At 25 weeks' gestation, video-assisted thoracoscopic surgery was performed and revealed endometriosis in the thoracic cavity. Since the leak persisted, chemical pleurodesis was performed with autologous blood and freeze-dried concentrated human thrombin at 28 weeks’ gestation. The leak improved markedly and did not recur.

Conclusion

This is the first case report about chemical pleurodesis with autologous blood and freeze-dried concentrated human thrombin during pregnancy. This procedure might contribute to the management of pneumothorax in pregnant women.  相似文献   

10.

Background

Information on the psychosexual outcome of individuals with disorders of sex development (DSDs) and intersex conditions is of great importance for sex assignment at birth of newborns with DSD.

Aim

To assess gender change and gender dysphoria in a large sample of individuals with different DSDs.

Methods

A cross-sectional study was conducted in 14 European centers with 1,040 participants (717 female-identifying and 311 male-identifying persons and 12 persons identifying with another gender) with different forms of DSD. The cohort (mean age = 32.36 years, SD = 13.57) was divided into 6 major subgroups: women with 45,X DSD and variants (Turner syndrome; n = 325), men with 47,XXY DSD and variants (Klinefelter syndrome; n = 219), women with XY DSD without androgen effects (n = 107) and with androgen effects (n = 63), men with XY DSD (n = 87), and women with 46,XX congenital adrenal hyperplasia (n = 221). Data on psychosexual outcome were gathered by medical interviews and questionnaires.

Outcomes

Gender change and gender dysphoria.

Results

Although gender changes were reported by 5% of participants, only in 1% (3% if those with Klinefelter and Turner syndromes—conditions in which gender issues are not prominent—are excluded) did the gender change take place after puberty and was likely initiated by the patient. 39 participants (4%) reported gender variance: between male and female, a gender other than male or female, or gender queer, alternating gender roles, or a gender expression that differed from the reported gender. This group had lower self-esteem and more anxiety and depression than the other participants.

Clinical Implications

Clinicians should be aware of and sensitive to the possibility that their patients with DSD not only might have transgender feelings and a desire to change gender, but also identify as different from male or female. The complexity of their feelings might require counseling for some patients.

Strengths and Limitations

The study is unique in the large number of participants from many different clinics, with sizable numbers in most subgroups, and in the large number of aspects that were measured. However, the very broadness of the study made it impossible to focus in detail on gender issues. Also, there is a need for instruments specifically measuring gender dysphoria in individuals with DSD that take non-binary genders into account.

Conclusion

To make appropriate gender care possible for people with DSD, the gender-normative and gender-variant development of children with DSD should be studied in longitudinal studies.Kreukels BPC, Köhler B, Nordenström A, et al. Gender Dysphoria and Gender Change in Disorders of Sex Development/Intersex Conditions: Results From the dsd-LIFE Study. J Sex Med 2018;15:777–785.  相似文献   

11.

Background

Congenital arteriovenous malformations (AVMs) are infrequent but represent a serious medical challenge because of their unpredictable progression and high hemodynamic activity.

Case

We report on the treatment of a voluminous vulvar AVM in a 16-year-old girl. After failure of medical therapy, we performed a radical surgical resection with preliminary embolization and flap reconstruction.

Summary and Conclusion

A multidisciplinary approach is required for AVM management. Early intervention and complete surgical resection combined with preliminary embolization represents the ideal therapy.  相似文献   

12.

Study Objective

To assess the effects of the Seventeen Days interactive video on young women's perceived self-efficacy for using condoms 6 months after being offered the intervention, relative to a control.

Design

Multisite randomized controlled trial.

Setting

Twenty participating health clinics and county health departments in Ohio, Pennsylvania, and West Virginia.

Participants

Sexually active female adolescents ages 14 to 19 years.

Interventions

Seventeen Days (treatment intervention; sex education) vs Driving Skills for Life (control intervention; driving education).

Main Outcome Measures

Perceived self-efficacy for condom use.

Results

Participants in the Seventeen Days group reported higher perceived condom acquisition self-efficacy after 6 months than those in the driving group. This finding held after controlling for baseline self-efficacy scores and other covariates.

Conclusion

The Seventeen Days program shows promise to improve perceived self-efficacy to acquire condoms among sexually active female adolescents—an important precursor to behavior change.  相似文献   

13.

Background

Patients’ underlying medical conditions might affect the presentation and progression of an eating disorder.

Case

We describe a patient with an undiagnosed, rare, genetic skeletal dysplasia with effects on body mass index that likely led to body image distortion and delayed the diagnosis of an eating disorder.

Summary and Conclusion

It is critical to fully assess disordered eating in the context of each patient's clinical status.  相似文献   

14.
15.

Objective

To determine the normal values of flow mediated dilatation (FMD) in Taiwanese women with normal singleton pregnancies for the early detection of preeclampsia.

Materials and methods

Data of women with normal singleton pregnancies seen at the Tri-Service General Hospital and Taiji Clinic between January 2014 and December 2015 were collected and analyzed. FMD was measured using high-resolution ultrasonography of the brachial artery for the assessment of endothelial function at the first and second trimester. The relationship between the FMD values and maternal gestational age was analyzed.

Results

A total of 122 pregnant women were included in the study. Systole FMD values first and second trimester were 9.05 ± 3.72 and 10.93 ± 3.74, respectively; and the diastole were 9.24 ± 3.64 and 11.18 ± 3.93, respectively. FMD and gestational age were positively correlated (systole, p = 0.0175; diastole, p = 0.0149).

Conclusion

The normal values of FMD in Taiwanese women with normal singleton pregnancies were established, and data suggests that both systolic and diastolic FMD increase with gestational age. Because of the high failure rate, measurement of FMD may not be suitable as a routine clinical examination.  相似文献   

16.

Objective

To compare the risk profiles for gestational diabetes mellitus (GDM) using a one-step and two-step screening method and diagnostic criteria.

Materials and methods

A retrospective cohort study was conducted among women screened using Carpenter and Coustan's (C&C) criteria (two-step method) and the International Association of the Diabetes and Pregnancy Study Groups (IADPSG) criteria (one-step method). All deliveries after 28 weeks of gestation, except for pregnancies complicated by pre-pregnancy diabetes mellitus, were analyzed. Multiple logistic regression was used to assess the associations between GDM and various potential risk factors.

Results

Risk factors for C&C-defined GDM were pre-pregnancy body mass index >24.2 kg/m2 (adjusted odds ratio [OR] 2.49, 95% confidence interval [CI] 1.92–3.23), maternal age at delivery >34 years (adjusted OR 2.46, 95% CI 1.96–3.09), history of fetal death (adjusted OR 2.56, 95% CI 1.37–4.78), and chronic hypertension (adjusted OR 3.66, 95% CI 1.50–8.91). In addition to these factors, conception assisted by reproductive technology (adjusted OR 1.64, 95% CI 1.19–2.25) and genetic amniocentesis (adjusted OR 1.19, 95% CI 1.03–1.38) were IADPSG-defined GDM risk factors.

Conclusion

Risk factors for GDM differ with the diagnostic criteria used. This information is important when changing GDM screening strategies from the two-step approach to the one-step approach.  相似文献   

17.

Objective

Acquired uterine arteriovenous malformation (UAVM) is a rare, life-threatening disease. Angiography with uterine arterial embolization (UAE) is the diagnostic tool and a choice of fertility-sparing treatment. Here, we present a series of five successful pregnancies after embolization of UAVM.

Case reports

Three reproductive aged women were treated for UAVM, resulting in five successful pregnancies. Their past history suggested that three cases had had previous uterine procedures, including second trimester abortion and elective dilatation and curettage. Intermittent heavy vaginal bleeding was the primary symptom of UAVM. One patient with anemia had two ineffective embolizations and achieved a singleton pregnancy after the third embolization. However, intrauterine fetal demise with severe fetal growth retardation was noted on the 28th gestation week. The other two women had temporary ovulation disorder after UAE. After Clomiphene Citrate (CC) treatment, successful pregnancies were achieved and carried to term uneventfully.

Conclusion

UAE is an acceptable method for preserving fertility and treatment in women with symptomatic UAVMs.  相似文献   

18.

Objective

There are some reports of cervical cancer with uterus didelphys but a case of clear cell carcinoma (CCCC) with Obstructed Hemivagina and Ipsilateral Renal Anomaly (OHVIRA) syndrome is extremely rare. The aim of this paper was to report a case of CCCC with OHVIRA syndrome and the difficulty in making a preoperative diagnosis.

Case report

A 65 years old woman presented with postmenopausal bleeding and pelvic examination showed right paracervical mass. Preoperative confirmation of cervical carcinoma was difficult due to the location of the mass, which was inaccessible by cervical punch biopsy. Pelvic examination revealed a large mass in pelvic cavity without parametrial invasion and ultrasound showed approximately 70 mm cervical tumor. Laparoscopic surgery revealed clear cell carcinoma of the para-endocervix with OHVIRA syndrome.

Conclusion

In the case of cervical carcinoma with OHVIRA syndrome, laparoscopic surgery is preferable for the diagnosis and management.  相似文献   

19.

Background

Ovarian teratomas are rarely associated with paraneoplastic autoimmune meningoencephalitis. In addition to the well known N-methyl-D-aspartate receptor (NMDA-R) antibody, the glial fibrillary acidic protein (GFAP) antibody is a novel biomarker of autoimmune meningoencephalitis that might be seen in patients with ovarian teratoma.

Case

A 13-year-old girl with acute-onset meningoencephalitis and incidental finding of ovarian teratoma was found to have coexisting anti-NMDA-R and GFAP antibodies present in her cerebrospinal fluid.

Summary and Conclusion

NMDA-R and GFAP autoimmune encephalitis should be considered in adolescent patients with neurologic or psychiatric symptoms and an ovarian teratoma. Prompt diagnosis and surgical resection increase the likelihood of full neurologic recovery.  相似文献   

20.

Background

A mild degree of clitoromegaly can be associated with patients with polycystic ovarian syndrome (PCOS). We describe an unusually significant clitoromegaly in a patient with PCOS.

Case

An 18-year-old nonobese female patient was referred for clitoromegaly. Her genitalia exam showed significant clitoral enlargement with a well-formed glans, clitoris measured at 35 mm for length and 10 mm for width. Pelvic ultrasound showed a left ovarian cyst. Her testosterone level ranged from 28.8 to 64.1 ng/dL (normal: 8.4-48.1 ng/dL) with normal sex hormone binding globulin. Other ovarian hormones were in acceptable ranges.

Summary and Conclusion

This case demonstrates the coexistence of significant clitoromegaly, PCOS, and nonfunctioning ovarian cyst.  相似文献   

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