Clinica e Investigacion en Ginecologia y Obstetricia最新文献

Introduction

Mosaicism due to duplication of chromosome 1q is recognized as a cytogenetic anomaly, characterized by low frequency and few cases reported in the literature.

Clinical findings

In this case, we present a primigravida patient at 24 weeks of pregnancy, with a fetus displaying abnormal ultrasound findings. These include ventriculomegaly, micrognathia, hypotelorism, and associated diaphragmatic hernia.

Primary diagnoses

Amniocentesis was performed, and karyotype analysis revealed a prenatal diagnosis of mos 46,XY,dup(1)(q23q44)[19]/46,XY[41] mosaicism. Subsequently, the patient experienced preterm delivery with early perinatal demise.

Therapeutic interventions and outcomes

Due to the lack of evidence regarding fetal therapy and the prenatal diagnosis of this condition, postnatal assessment was awaited for appropriate therapeutic management. Subsequently, the patient had preterm delivery with early perinatal death.

Conclusion

Heterogeneity of findings is observed to depend on the size and location of the chromosomal alteration, and factors such as the concurrent development of diaphragmatic hernia are associated with a poorer prognosis and higher rates of mortality due to the degree of pulmonary hypoplasia.

The significant increase in pediatric and adolescent cancer survivors in the last few decades, has highlighted on options to minimize long-term side effects related to treatment. Fertility preservation alternatives in girls after a cancer diagnosis are moving from being considered experimental to becoming an increasingly widespread healthcare practice. On the other hand, the real possibilities in prepubertal boys still have a longer way to improve. Since these are minor and especially vulnerable patients, multidisciplinary work is essential, with homogeneous criteria in patient selection and application of techniques. The following publication summarizes the state of the art on this subject, emphasizing the differentiating features in relation to the adult population.

Background

As sexuality and its related issues are significantly associated with sociocultural settings, addressing the sexual health status of individuals in different societies is of the utmost importance. Women with vaginismus have more stress, anxiety, depression, and they also feel hopeless and have low self-esteem. And this problem can disturb intimacy between couples and women's sexual self-concept. Therefore, the present study was to determine and compare sexual self-concept and intimacy in women presenting with and without vaginismus.

Methods

This case–control study was conducted in 2021–2022 on 240 women with and without vaginismus, referring to selected sexual health clinics based in Iran. The data collection tools recruited were the demographic characteristics’ information, the Multidimensional Sexual Self-Concept Questionnaire, and the Sexual Intimacy Scale. To calculate the odds ratio of the studied variables, the logistic regression analysis using the SPSS Statistics software (ver. 25) was also employed.

Results

The mean age of women with and without vaginismus was 27.85 ± 4.62 and 28.51 ± 4.34, respectively. According to the regression results, the variables of sexual intimacy (odds ratio (OR) = 0.864, P < 0.001), sexual awareness (OR = 6.090, P = 0.003), sexual-anxiety (OR = 1.613, P < 0.001), fear of sex (OR = 1.338, P = 0.021) and sexual problem prevention (OR = 0.765, P = 0.016) were significantly associated with vaginismus.

Conclusions

According to these results, sexual intimacy, sexual awareness, sexual-anxiety, fear of sex and sexual problem prevention were significantly associated with vaginismus. Therefore, it is suggested that for the treatment of women with vaginismus, interventions can be designed to improve sexual intimacy, sexual knowledge and positive sexual self-concept and reduce sexual anxiety.

Introduction

Fibroids are common benign gynecological tumors but a rare finding in adolescents. Although infrequent, some symptomatic cases have been described in literature.

Main symptoms and/or clinical findings

A 16-year-old Caucasian patient came to our attention for abdominal pain and dysmenorrhea appeared two months before. Her gynecological history was characterized by regular menstrual cycles, normal in quantity, with dysmenorrhea. Bimanual pelvic examination revealed an anteverted mobile uterus, no adnexal tenderness or masses. Speculum examination showed a normal cervix. No vaginal bleeding or discharge was observed during the visit.

Main diagnoses

Transabdominal/transvaginal ultrasound demonstrated an anteverted uterus of 71 mm × 44 × 48 mm, with a heterogeneous myometrial structure and a hypoechoic subserosal-intramural mass (FIGO leiomyoma subclassification system: O-4) localized in the posterior uterine wall, measuring 26 mm × 19 mm × 16 mm, slightly vascularized at the Color-Doppler (Color Score 2). Magnetic resonance imaging confirmed the ultrasound diagnosis.

Therapeutic interventions and outcomes

Considering pelvic mass dimension and the patient age, a “wait and see” approach was chosen and the patient was re-evaluated a month and three months after the first ultrasound. The second and the third transvaginal ultrasound exam showed an unchanged picture.

Conclusion

The management of leiomyoma in young patients should be targeted to dimension and symptoms of the mass. When facing myomas of small dimension, paucisymptomatic or asymptomatic, with no signs of malignity, we suggest an expectant management.

Idiopathic granulomatous mastitis (IGM) is a benign chronic inflammatory disease affecting the breast stroma. Diagnosis is by exclusion and requires histopathological confirmation, as its clinical and radiological presentation may be similar to breast carcinoma. Treatment is mainly medical, complemented by percutaneous drainage and ultimately surgical.

Although it is a benign pathology, it can cause significant impairment of quality of life. Due to its nature, it requires a multidisciplinary approach. It is necessary to protocolise the management of this entity both to establish the diagnosis and to initiate appropriate treatment early and prevent progression to advanced stages.

The aim of this work is to standardise the diagnosis and treatment of IGM from a multidisciplinary approach following medical consensus. The diagnostic algorithm is described, considering risk factors for IGM, typical radiological signs in order to be able to detect suspected cases early and subsequently ensure early treatment, which is described in the following algorithm for treatment. We also describe a specific follow-up circuit.

These multidisciplinary diagnostic-therapeutic algorithms are proposed to raise awareness and standardise the approach to this rare disease, accelerating its diagnosis and optimising its treatment.

ertility preservation is indicated in most cases of oncologic diseases and when gonadotoxic treatments are prescribed. However, in recent years, there has been an increase in preservation cycles carried out for benign diseases and conditions with a risk of developing premature ovarian failure. Premature ovarian insufficiency is related to a genetic disorder in 10% of cases. The most common known conditions are FMR1 premutation and Turner syndrome, and recently, other diseases such as mutations in the BRCA 1/2 genes have been implicated in this pathology.

We conducted a bibliographic review on premature ovarian insufficiency associated with the premutation of the FMR1 gene or Fragile X Messenger Ribonucleoprotein 1, the various pathophysiological theories described, and the difficulty in predicting which women will develop ovarian failure due to the lack of a useful predictive marker. Additionally, we evaluated different recommendations for managing these women and when to indicate the implementation of fertility preservation techniques. This option could prevent the psychological impact women of these women's reproductive health impairment.

Premature or primary ovarian insufficiency (POI) is characterized by the loss of ovarian function in women under 40 years of age, with a prevalence of 1% of the female population. Women with POI face subfertility and premature symptoms associated with menopause. Currently, reproductive options for these patients are limited, primarily relying on oocyte donation. However, recent advances in the knowledge of the initial phases of folliculogenesis have allowed the proposal of new therapeutic strategies to try to restore ovarian function in these patients. In this paper, the physiological background, preliminary results on POI and DOR (decreased ovarian reserve) patients, as well as future challenges associated with these innovative treatments are addressed. The ovarian reactivation strategies analyzed in this review include surgical procedures (IVA and Drug-Free IVA), the infusion of growth factors from activated platelets (Platelet-Rich Plasma) or the use of stem cells and factors released by them (Stem Cell-Based Therapy), and the use of mitochondrial transfer therapies.

Introduction

Disseminated peritoneal leiomyomatosis (DPL) is a benign pathology, defined by the presence of multiple disseminated nodules in the peritoneum of different sizes composed of bundles of smooth muscle cells. Several theories are postulated about its origin related to hormonal stimulus, genetic susceptibility and iatrogenesis after surgeries such as laparocopic myomectomies.

Clinical findings

Patients usually present with abdominal discomfort of various kinds, and it may even be asymptomatic, being an incidental finding on imaging tests.

Main diagnoses

The differential diagnosis usually includes carcinomatosis, endometriosis, endosalpingiosis, tumours of the gastrointestinal tract or leiomyosarcoma.

Therapeutic interventions

There is insufficient evidence about the best approach, with some advocating expectant management or medical treatment and others advocating more radical surgical management. Among medical treatments, one of the most widely used are GnRH agonists, aromatase inhibitors and selective progesterone receptor modulators such as ulipristal acetate have also been used with good results.

Results

In this case we present a patient with LPD with 15 years of follow-up in our hospital, with no evidence of malignancy.

Conclusion

Knowing the generally benign nature of this disease, it is necessary to opt for the least invasive approach possible. The long-term evolution of this disease is unknown, as most published cases do not have sufficient follow-up time.

Introduction

Metastasis of breast cancer to the uterus is an exceptionally rare occurrence, typically presenting with vaginal bleeding as the predominant symptom. Here, we present a case of synchronous lobular breast cancer metastasis to a uterine myoma.

Main symptoms and/or clinical findings

A 42-year-old infertile patient was admitted to the gynecology clinic with the complaints of meno/metrorrhagia. Ultrasound revealed a 5 cm intramural myoma on the anterior wall of the uterus, leading to a myomectomy. The patient exhibited no symptoms related to breast cancer.

Main diagnosis

Histomorphological and immunohistochemical findings were indicative of breast-derived lobular carcinoma metastasis into leiomyoma.

Therapeutic interventions and outcomes

Positron emission tomography/computed tomography (PET/CT) scan revealed no pathological involvement beyond the breast and both axillary lymph nodes. The patient was diagnosed with stage IV breast lobular cancer and initiated chemotherapy treatment. Presently, the patient is undergoing regular monitoring at six-month intervals.

Conclusion

Uterine metastasis from extragenital organ cancers is exceedingly rare. In this instance, lobular breast cancer metastasis was confined to the uterine myoma. Clinicians and pathologists should exercise caution regarding gynecological metastases in breast cancer cases.

Cryobiology focuses on understanding how biological materials react to very low temperatures. This field has experienced significant advances, particularly in the field of assisted reproduction, where programs have been developed to preserve fertility. These developments are of critical importance for those exploring alternatives in fertility and gamete preservation. Fertility preservation aims to protect a person's reproductive capacity under various health conditions, medical treatments, and social reasons that may compromise it. Accepted techniques for human fertility preservation include the cryopreservation of gametes and embryos. There is growing promising evidence on different experimental techniques within this field, such as cryopreservation of gonadal tissue or in vitro maturation strategies, as well as new methodologies in cryogenic protocols that will optimize results and mark a turning point in the field of assisted reproduction. This work aims to explore the current state-of-the-art strategies offered to women in the context of fertility preservation, review advances in cryobiology, and its role in the evolution of this area.