A 13-Year-Old Girl with Caudal Regression Syndrome and Distal Vaginal Atresia: A Case Report.

BACKGROUND Caudal regression syndrome (CRS) is a rare anomaly characterized by maldevelopment of the caudal half of the body and can involve the genitourinary system. This report presents the case of a 13-year-old girl diagnosed with CRS and previously unknown distal vaginal atresia, presenting with monthly pelvic pain. CASE REPORT A 13-year-old pre-menarcheal patient with CRS sought emergency care due to debilitating monthly pelvic pain persisting for 3 months. Pelvic examination revealed the absence of a vaginal opening, and a rectal exam showed a 5-cm large bulge anteriorly, along with a 2-cm fibrous septum in the distal portion of the vagina. Pelvic ultrasound and magnetic resonance imaging confirmed the presence of hematometrocolpus and hematosalpinx on the right adnexa, while the left ovary was not identified. Treatment commenced with fixed analgesia and combined continuous oral contraception. Due to the persistent pain and uncertainty regarding the anatomy of the internal reproductive organs, diagnostic laparoscopy with drainage of the hematocolpus was performed 2 weeks later. Six months later, after multidisciplinary discussion, definitive surgery (pull-through vaginoplasty) was carried out, allowing for emotional preparation for postoperative dilation. One year after the definitive surgery, the patient remains asymptomatic, experiencing regular withdrawal bleeding with no signs of obstruction. CONCLUSIONS Patients with musculoskeletal anomalies should undergo urogenital tract evaluation. Timely identification of distal vaginal atresia is pivotal for devising appropriate treatment and averting complications. During the acute phase, laparoscopic drainage can alleviate symptoms and clarify anatomy, without compromising the success of subsequent definitive surgery.

[Long-Term Reversible Contraception in Adolescence: The Reality of a Tertiary Pediatric Hospital in Portugal]. / Contraceção Reversível de Longa Duração na Adolescência: A Realidade de um Hospital Pediátrico Terciário em Portugal.

INTRODUCTION: Contraception in adolescence is essential to prevent unwanted pregnancies, abortion and sexually transmitted diseases. The use of longacting reversible contraceptive methods (LARCs) has been highly recommended due to their efficacy since they are user independent methods. The aim of this study was to evaluate the use of LARCs in adolescence in the population of a Childhood and Adolescence Gynecology clinic, and to describe the sociodemographic characteristics of the adolescents as well as previous contraceptive practices. MATERIAL AND METHODS: Retrospective analysis that included adolescents using LARCs, monitored in a Childhood and Adolescence Gynecology clinic of a Portuguese tertiary pediatric hospital, between June 2012 and June 2021. RESULTS: A total of 122 adolescents were included, with a median age of 16 (11 - 18) years and 62.3% (n = 76) were sexually active. The preferred method was the subcutaneous implant, placed in 82.3% (n = 101), followed by the Levonorgestrel-Intrauterine System in 16.4% (n = 20) and the copper intrauterine device in 1.3% (n = 1). The main indications for LARCs were contraceptive needs 90.2% (n = 110), abnormal uterine bleeding during puberty in 14.8% (n = 18), dysmenorrhea in 10.7% (n = 13) and need for amenorrhea in 0.8% (n = 1). The median time of implant use was 20 (1 - 48) months and of the LNG-IUS it was 20 (1 - 36) months. The 12-month adherence rate for both was 76.2% (n = 93). The removal rate for reasons besides the expiration date was 9.8% (n = 12) in adolescents who had implants, and no LNG-IUS or copper intrauterine devices were removed. There were no pregnancies after insertion of LARCs. CONCLUSION: Contraceptive needs were the main reason for choosing LARCs, followed by abnormal uterine bleeding during puberty management and dysmenorrhea. All these factors may contribute to the high rate of satisfaction and continuity of these methods.

Introdução: A contraceção na adolescência tem um papel fundamental na sociedade por prevenir gravidezes indesejadas e infeções sexualmente transmissíveis. O uso de métodos contracetivos reversíveis de longa duração (LARCs) tem vindo a ser recomendado pela sua eficácia e perfil de segurança nesta faixa etária. O objetivo deste estudo foi avaliar a utilização de LARCs na população de uma consulta de Ginecologia da Infância e Adolescência e descrever as características sociodemográficas das adolescentes assim como a prática contracetiva prévia. Material e Métodos: Análise retrospetiva que incluiu as adolescentes utilizadoras de LARCs, acompanhadas na consulta de Ginecologia da Infância e Adolescência de um hospital pediátrico terciário português, no período entre junho de 2012 e junho de 2021. Resultados: Foram incluídas 122 adolescentes, cuja mediana de idades foi 16 (11 ­ 18) anos. Destas, 62,3% (n = 76) eram sexualmente ativas. O método preferencial foi o implante subcutâneo, colocado em 82,3% (n = 101), seguido do sistema intrauterino de Levonorgestrel (SIU-LNG) em 16,4% (n = 20) e o dispositivo intrauterino de cobre em 1,3% (n = 1). As principais indicações para a escolha de LARCs foram desejo contracetivo em 90,2% (n = 110), hemorragia uterina anormal da puberdade em 14,8% (n = 18), dismenorreia em 10,7% (n = 13) e necessidade de amenorreia em 0,8% (n = 1). O tempo mediano de utilização do implante foi 20 (1 ­ 48) meses e do SIU-LNG 20 (1 ­ 36) meses. A taxa de continuidade aos 12 meses para ambos foi de 76,2% (n = 93). A taxa de remoção antes do tempo padronizado foi de 9,8% (n = 12) nas adolescentes que colocaram implante, sendo que não foram removidos SIU-LNG ou dispositivo intrauterino de cobre. Não se registaram gravidezes após a colocação de LARCs. Conclusão: O desejo contracetivo foi o primeiro motivo para a escolha de um LARC seguido do controlo da hemorragia uterina anormal e da dismenorreia. Todos estes fatores poderão contribuir para a elevada taxa de satisfação e continuidade destes métodos.

The impact of anemia on treatment management and clinical outcomes of women hospitalized for uterine leiomyomas.

OBJECTIVES: Uterine leiomyomas are the most common benign gynecological tumors. Symptomatic leiomyomas represent a major cause of hospitalization, particularly those associated with abnormal uterine bleeding (AUB) and anemia. The aim of this study was to identify predictors of anemia in women hospitalized due to uterine leiomyomas and evaluate its impact on treatment management and clinical outcomes. MATERIAL AND METHODS: Population-based retrospective study of women hospitalized for uterine fibroids in public hospitals in mainland Portugal between 2010 and 2015. Data were extracted from the national database of the Central Administration of the Portuguese Health System. Comparative and multivariable logistic regression analysis was performed to assess outcomes. RESULTS: A total of 36 295 patients were hospitalized due to uterine leiomyomas during this period. Of those, 11.5% presented with anemia. Age, obesity, intramural type of leiomyoma and AUB are independent predictors of anemia (p < 0.001, AUC 0.7056). Anemia was associated with a high risk of inpatient hospitalization (OR: 5.161, 95% CI: 4.376-6.085), urgent admission (OR: 1.953, 95% CI: 1.797-2.121), radical surgical approach (OR: 2.559, 95% CI: 2.298-2.849), laparoscopic hysterectomy (OR: 1.575, 95% CI: 1.393-1.780) and intra- and post-operative complications (OR: 5.285, 95% CI: 4.332-6.448). It was also associated with longer hospital stays (p < 0.001). These outcomes were more pronounced in acute anemic patients. CONCLUSIONS: Anemia has a significant impact on treatment approaches and clinical outcomes of women hospitalized for uterine leiomyomas. Age, obesity, intramural leiomyomas and AUB are some predictors of anemia that could represent a risk-stratification opportunity, allowing for its prompt identification and correction, therefore improving patient care.

[Demographic and Professional Characteristics of Specialists in Obstetrics and Gynecology Registered in Portugal: Needs, Resources and Challenges]. / Características Demográficas e Profissionais dos Especialistas em Ginecologia-Obstetrícia Registados em Portugal: Necessidades, Recursos e Desafios.

INTRODUCTION: The demographic and professional characteristics of specialists in Obstetrics and Gynecology registered in Portugal are presented and current and future needs assessed. MATERIAL AND METHODS: An analysis of the data from Instituto Nacional de Estatística, Ordem dos Médicos and a survey sent to the directors of the departments of Obstetrics and Gynecology of Portuguese hospitals was perfomed. In order to calculate the necessary number of specialists, established indicators of the activity of the specialty were used. RESULTS: In 2018, there were 1 437 441 consultations of Obstetrics and Gynecology, 89 110 major gynecologic surgeries and 85 604 deliveries. For that, 1065 Obstetrics and Gynecology physicians, working 40 hours per week, with no more than 40% aged 55 years of age and older or including 30 residents per year, are deemed necessary. According to the National Institute of Statistics, in the same year there were 1143 specialists in Portuguese hospitals, of which 234 worked in private hospitals. On the other hand, 1772 specialists were registered with the Ordem dos Médicos: 1163 (66%) were aged 55 years old or above and 84% of specialists under the age of 40 were females. In 2020, there were 864 specialists, 46% of which aged years of age and older working in 39 out of the 41 public or public-private departments that answered the survey. In 2035, an increase of 7% in the required number of specialists is expected. CONCLUSION: In Portugal, there is not lack of Obstetrics and Gynecology specialists in absolute numbers, but the large number of specialists aged 55 years of age and older, who are exempt from shifts in emergency department work, and the existence of regional asymmetries contribute to the perpetuation of some shortages of these healthcare professionals in several departments, namely in public hospitals.

Introdução: Apresentam-se as caraterísticas demográficas e profissionais dos especialistas de Ginecologia-Obstetrícia registados em Portugal e avaliam-se necessidades atuais e futuras.Material e Métodos: Analisaram-se dados do Instituto Nacional de Estatística, da Ordem dos Médicos e de resposta a questionário enviado a diretores de serviços hospitalares portugueses de Ginecologia-Obstetrícia. Calcularam-se as necessidades de especialistas com base em indicadores estabelecidos de atividade médica da especialidade.Resultados: Em 2018, registaram-se, em Portugal, 1 437 441 consultas da especialidade, 89 110 grandes cirurgias e 85 604 partos. Para essa atividade calcula-se serem necessários 1065 médicos da especialidade, em regime de 40 horas semanais, dos quais não mais do que 40% com idade igual ou superior a 55 anos; para manter este número são necessários 30 internos por ano. Segundo o Instituto Nacional de Estatística, nesse ano existiam 1143 especialistas nos hospitais portugueses, 234 dos quais em hospitais privados. Por outro lado, estavam inscritos 1772 especialistas na Ordem dos Médicos, dos quais 1163 (66%) apresentavam uma idade igual ou superior a 55 anos, sendo 84% dos especialistas com menos de 40 anos do sexo feminino. Em 2020, nos 39 dos 41 serviços públicos e público-privados que responderam ao questionário, existiam 864 especialistas, dos quais 395 (46%) com idade igual ou superior a 55 anos. Para 2035 prevê-se um aumento de 7% nas necessidades de especialistas desta área.Conclusão: Em Portugal não há falta de especialistas de Ginecologia-Obstetrícia em número absoluto, mas a existência de um elevado número de especialistas com idade igual ou superior a 55 anos, que tem direito a deixar de prestar atividade nos Serviços de Urgência, e de assimetrias regionais, contribuem para que continuem a existir algumas carências destes profissionais em vários serviços, nomeadamente em hospitais públicos.

Cervical Ectopic Pregnancy: A Multidisciplinary Approach.

Cervical ectopic pregnancy is a rare but life-threatening condition in which early diagnosis and treatment are key to a successful outcome. In the past, this diagnosis led inevitably to a hysterectomy due to the risk of massive bleeding. Currently, the most effective method of treatment is yet to be found. We report a case of a 31-year-old nulliparous female with six weeks of amenorrhea and vaginal bleeding. The first approach missed the diagnosis, but an ultrasound performed by an expert revealed a gestational sac with an embryo in the cervical canal. The fertility-sparing therapeutic strategy involved performing treatment with systemic and local methotrexate, followed by embolization of the uterine artery and cervical curettage to remove the trophoblast. Our aim is to strengthen the importance of an early diagnosis and multidisciplinary perspective. Uterine artery embolization was the key to minimizing bleeding, enabling a treatment that preserved fertility.

Innovating the conservative management of isolated cervical aplasia.

Isolated cervical aplasia (ESHRE/ESGE U0C4V0) is a rare condition with an incidence of approximately 1:100,000 births.This congenital malformation of the female genital tract represents an impairment of the outflow tract and is an inevitable cause of infertility. Patients usually present with pelvic pain or haematometra and surgical treatment is needed. Conservative management is the first line of approach, allowing for future fertility. However, complications are not negligible. Choosing the best surgical technique remains controversial as few follow-up studies have been published.We describe a case report of isolated cervical aplasia diagnosed in a 16-year-old patient, managed by a canalisation procedure using a Foley catheter. Following failure of this approach, a levonorgestrel intrauterine system was inserted, which remained efficient after 4 years.This case adds to the few reports of success in the management of this challenging clinical entity and might guide clinicians to avoid non-conservative approaches in young patients.

Arterial hypertension as an inaugural sign of myomatous uterus.

Uterine fibroids can be large enough to cause mechanical obstruction of pelvic ureters, which may result in hydroureters and hydronephrosis. Renal impairment frequently results in hypertension due to increased activity of the tubuloglomerular feedback system and renin-angiotensin-aldosterone axis. This process, however, seems reversible because normalisation of blood pressure is possible after the relief of renal obstruction. We report a rare case of a nulliparous woman with a myomatous uterus and an isolated initial complaint of high blood pressure. After proper diagnostic investigation, a uterine mass of 20 cm causing bilateral hydronephrosis was discovered. A successful myomectomy was conducted, which achieved an intact endometrium lining with posterior normalisation of blood pressure.

[Opportunistic Salpingectomy for Permanent Contraception: A Cross Sectional Study in Portugal]. / Salpingectomia Profilática como Método de Contraceção Definitiva: Estudo Transversal em Portugal.

INTRODUCTION: Opportunistic bilateral salpingectomy has been proposed as an ovarian cancer risk-reducing strategy namely as a means of tubal sterilization. We aimed to assess what were the procedures for interval and peripartum sterilization carried out nationwide, related motivational aspects and influential demographic or professional factors. MATERIAL AND METHODS: Cross-sectional study based on an original survey sent to Obstetrics and Gynecology specialists and residents from across the country in 2019. RESULTS: Two hundred and twenty-five answers were obtained from 42 institutions (37 from the public sector). Laparoscopic tubal electrocoagulation (61%) was the most common procedure for interval sterilization followed by salpingectomy (28%). Major reasons pointed out for not performing salpingectomy were increased operative time (48.5%) and procedure not considered (45.5%). In some hospitals, the choice of salpingectomy depended on specific criteria namely surgical team decision. During cesarean-section, sterilization was most frequently performed using the modified Pomeroy technique (54%), followed by salpingectomy (32.5%), with a statistically significant prevalence in the north of the country. Sixty-nine percent of Portuguese Obstetrics and Gynecology residents and specialists consider that salpingectomy should be the procedure offered to women asking for definitive contraception. DISCUSSION: Although data are limited, salpingectomy at the time of cesarean delivery appears feasible and safe and this context might represent the best opportunity for intervention. CONCLUSION: Opportunistic salpingectomy is not the most common sterilization procedure performed in Portugal, but it was considered the best choice to offer. Its benefits and risks should be discussed with women.

Introdução: A salpingectomia profilática foi proposta como estratégia de redução do risco de cancro do ovário e método de contraceção definitiva. O objetivo deste estudo foi conhecer os procedimentos realizados a nível nacional para contraceção definitiva de intervalo e peri-parto, a opinião e motivações dos clínicos, e os fatores demográficos ou profissionais influentes.Material e Métodos: Este é um estudo analítico transversal, baseado num questionário original enviado durante o ano de 2019 a especialistas e internos de Ginecologia-Obstetrícia a exercer em Portugal.Resultados: Obtivemos 225 respostas provenientes de médicos a exercer em 42 hospitais (37 públicos). A laqueação tubar laparoscópica por eletrocoagulação e corte (61%) foi o método mais frequentemente utilizado na mulher não grávida, seguido da salpingectomia (28%). Os principais motivos apontados para não realizar salpingectomia foram o aumento do tempo operatório (48,5%) e tratar-se de procedimento não equacionado (45,5%). Em alguns hospitais, a realização deste método dependia da decisão da equipa cirúrgica. No contexto per-cesariana, a técnica mais comum foi a de Pomeroy modificada (54%), seguida da salpingectomia (32,5%), com uma concentração no Norte do país com significado estatístico. A maioria (69%) dos participantes consideraram que a salpingectomia deveria ser o procedimento disponibilizado.Discussão: Apesar da evidência científica ainda ser escassa, a salpingectomia per-cesariana parece exequível e segura, podendo representar a melhor oportunidade para intervenção no contexto da contraceção definitiva.Conclusão: A salpingectomia profilática não é o procedimento de esterilização mais comum em Portugal, mas foi considerada como a escolha mais adequada. Os seus benefícios e riscos devem ser discutidos com as mulheres.

Abnormal Uterine Bleeding in Adolescents: A Multidisciplinary Approach.

Abnormal uterine bleeding is the most common complaint that motivates female adolescents to seek medical advice. Abnormal uterine bleeding has a significant impact on quality of life, promoting school absenteeism and limitations in social life. Moreover, episodes can vary from mild to life threatening events if not recognized and treated promptly. Healthcare providers should be able to distinguish between a normal and abnormal menstrual pattern, as this may provide early diagnosis of a potential health concern. The PALM-COEIN classification system should be used in the evaluation. Anovulation is the most frequent cause, frequently due to immaturity of the hypothalamic-pituitary-ovarian axis. A careful history and physical examination are crucial in the differential diagnosis. Management is based on both the underlying cause and the severity of bleeding. Most patients improve with pharmacological treatment, frequently requiring a multidisciplinary approach. First line treatment consists of hormonal therapy. Surgery is rarely needed. Although the prevalence of abnormal uterine bleeding is higher in adolescents compared to adults, most recommendations are not specific for this age, which makes the diagnosis and management challenging. The literature reveals lack of standardized care for adolescents and regimens vary widely. Future studies on efficacy and safety of treatments specifically in adolescents are needed.

A hemorragia uterina anormal constitui a queixa que mais frequentemente leva as adolescentes a procurar cuidados de saúde. Esta situação tem um impacto significativo na qualidade de vida, levando a absentismo escolar e limitações na vida social. Os episódios podem variar de ligeiros a potencialmente fatais, se não reconhecidos e tratados rapidamente. Os prestadores de cuidados de saúde devem ser capazes de distinguir um padrão menstrual anormal, uma vez que isto poderá permitir o diagnóstico precoce de um grave problema de saúde. A classificação de PALM-COEIN deve ser usada na avaliação. A causa mais frequente é a anovulação, frequentemente associada a imaturidade do eixo hipotálamo-hipófise-ovário. A história clínica e um exame objetivo cuidado são cruciais no diagnóstico diferencial. A abordagem terapêutica deve ser baseada na etiologia subjacente e gravidade da hemorragia, sendo frequentemente necessária uma intervenção multidisciplinar. A maioria das doentes melhora com tratamento farmacológico, cuja primeira linha é constituída pela terapêutica hormonal. O tratamento cirúrgico é raramente necessário. Apesar da prevalência ser superior em adolescentes, a maioria das recomendações não são específicas desta idade, o que dificulta o diagnóstico e abordagem. A literatura revela falta de uniformização de condutas em adolescentes e os esquemas posológicos são muito variáveis. Por este motivo, é fundamental a realização de estudos sobre a eficácia e segurança dos tratamentos nesta faixa etária.

Breast pathology in adolescence.

OBJECTIVE: Description of breast pathology in adolescents. METHODS: A retrospective descriptive study of adolescents who were referred to the Gynecology consultation of a tertiary pediatric hospital for suspected breast pathology, in the period from the 1st June 2011 to the 30th December 2018. RESULTS: One hundred and two female adolescents (11 to 18 years old) with suspected breast pathology were referred (6% of the motives for consultation), with confirmation in 58 (56.9%), who were included in the study. The reasons for referral were breast masses (66%), anomalies in breast size or symmetry (29%) and infection (5%). Of breast masses, the most frequent diagnosis was fibroadenoma (76%), followed by fibro-cystic pathology (18%). In most cases, a conservative approach was chosen, with clinical and imaging surveillance. Surgery was required in 29% of these cases. Anomalies in breast size and symmetry were observed in 17 adolescents. Two adolescents were submitted to symmetrization, after 18 years of age. Infectious and inflammatory pathology occurred in three cases: two mastitis and one retroareolar cyst. The approach consisted mainly of antibiotherapy. There were no cases of malignant breast disease. CONCLUSION: Lumps or breast masses are the most frequent breast pathology in adolescence, and in the majority of cases surveillance was recommended, as they are a mere sign of hormonal oscillations at this age. Objective examination and/or breast ultrasound are usually enough to make the diagnosis. The approach must be mainly conservative, since malignancy is extremely rare in this age group.

Physician awareness regarding contraceptive counselling in women with chronic disease.

INTRODUCTION: Contraceptive counselling is essential in women with chronic disease, though it is frequently overlooked. We aimed to assess practices and awareness in contraceptive counselling in hospital physicians caring for reproductive age women with chronic disease. METHODS: A questionnaire was distributed in April 2017 to physicians from 16 medical specialties in a tertiary care hospital in Portugal. Statistical analysis performed using Microsoft Office Excel® and IBM SPSS-Statistics®. RESULTS: Two-hundred physicians participated in the survey: 59.5% were female, 55% under 35 years-old and 48.5% were residents. Only 26.5% practiced in surgical specialties. Two-thirds consistently inquired about the use of contraception. Most referred patients to Family Planning services or performed contraceptive counselling when pregnancy posed significant health risks (89.0%), when prescribing teratogenic medication (79.5%) or drugs with potential interaction with contraceptives (75.0%). Lack of training in contraception was the main reason for not referring patients to Family Planning services. While 83% considered counselling very important, only 5% had recently undergone training and 12.5% felt knowledgeable enough to perform it. Only 12.5% were aware of the institution's Family Planning resources. Female gender, non-surgical specialty, age over 35 years-old and over 10 years since specialisation were positively associated with awareness. CONCLUSION: Most physicians addressed contraceptive management in women with comorbidities, but adequate training is lacking. Our results highlight the importance of communication between health care providers to achieve an adequate and multidisciplinary approach to reproductive and general health goals.

Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency.

INTRODUCTION: Chromosome abnormalities contribute to about 10% of cases of premature ovarian insufficiency. Most are associated with X chromosome. Fragile mental retardation 1 (FMR1) gene premutation has an estimated prevalence of 1% - 7% in sporadic cases and up to 13% in familial cases. Our aim was to describe the clinical characteristics, cytogenetic and FMR1 testing of a Portuguese population with premature ovarian insufficiency. MATERIAL AND METHODS: Women diagnosed with premature ovarian insufficiency in a Portuguese tertiary centre were retrospectivelyanalysed. Data were retrieved from electronic medical records including clinical characteristics, cytogenetic and FMR1 testing. The main outcome measures were the prevalence of chromosome abnormalities and FMR1 premutation in a Portuguese population with premature ovarian insufficiency. RESULTS: Ninety-four patients were included, with a median age at menopause of 36 years. The prevalence of chromosome abnormalities was 16.5% (14/85) and most were X chromosome related (78.6%). The prevalence of FMR1 premutation was 6.7% (6/90). The prevalence of karyotypic abnormalities or FMR1 premutation did not differ significantly between familial and sporadic cases. Neither chromosome abnormalities nor FMR1 premutation influenced age at menopause or follicle stimulating hormone levels at diagnosis in premature ovarian insufficiency patients. DISCUSSION: This is the first study describing the clinical characteristics and both cytogenetic and FMR1 testing in a Portuguese population with premature ovarian insufficiency. The rate of chromosome abnormalities in our sample was higher than in other populations, while the prevalence of FMR1 premutation was similar to previous reports. CONCLUSION: Our results underline the importance of genetic screening in premature ovarian insufficiency patients in both etiological study and genetic counselling.

Introdução: As anomalias cromossómicas contribuem para 10% dos casos de insuficiência ovárica prematura estando maioritariamente associadas ao cromossoma X. A pré-mutação do gene fragile mental retardation 1 (FMR1) tem uma prevalência estimada de 1% - 7% nos casos esporádicos e até 13% nos casos familiares. O nosso objetivo foi descrever as características clínicas e a análise citogenética e do gene FMR1 de uma população Portuguesa com insuficiência ovárica prematura. Material e Métodos: Análise retrospetiva das mulheres com o diagnóstico de insuficiência ovárica prematura vigiadas num hospital terciário Português. Recolha de dados através do processo médico eletrónico incluindo características clínicas, análise citogenética e análise do gene FMR1. Os desfechos principais foram a prevalência de anomalias cromossómicas e da pré-mutação FMR1 numa população Portuguesa com insuficiência ovárica prematura. Resultados: Foram incluídas 94 doentes, com uma mediana de idade de menopausa de 36 anos. A prevalência de anomalias cromossómicas foi 16,5% (14/85) e a maioria estavam relacionadas com o cromossoma X (78,6%, n = 11). A prevalência da pré-mutação FMR1 foi de 6,7% (6/90). A prevalência de anomalias cromossómicas ou pré-mutação FMR1 não diferiu entre casos esporádicos e familiares. Nem as anomalias cromossómicas nem a pré-mutação FMR1 influenciaram a idade de menopausa ou os níveis da hormona estimulante dos folículos capilares aquando do diagnóstico na população com insuficiência ovárica prematura. Discussão: Este é o primeiro estudo a descrever as características clínicas e a análise citogenética e do gene FMR1 numa população Portuguesa com insuficiência ovárica prematura. A prevalência de anomalias cromossómicas na nossa amostra foi superior à descrita para outras populações, enquanto a prevalência da pré-mutação FMR1 foi semelhante à descrita em estudos anteriores. Conclusão: Os nossos resultados sublinham a importância do rastreio genético em doentes com insuficiência ovárica prematura, quer no estudo etiológico, quer no aconselhamento genético.

National trends and determinants of hospitalization for uterine leiomyomas - Portuguese public database analysis from 2000 to 2015.

OBJECTIVE: To determine the trends of hospitalization (inpatients and outpatients) for uterine leiomyomas in Portugal, over a period of fifteen years. STUDY DESIGN: We perform a population- and register-based retrospective study of women who were hospitalized with a primary diagnosis of uterine fibroid in public hospitals in continental Portugal, in the period between January 1, 2000 and December 31, 2015. Patient data regarding hospital codes, admission and discharge dates, patient age, diagnosis, procedures and complications were extracted from the national database of Administração Central do Sistema de Saúde (ACSS). All calculations were performed with the STATA software, version 13.1. Categorical data were analysed by the χ2 test and the means of continuous variables were analysed with Student's t-test. Statistical significance was set at p < 0.05. RESULTS: Between 2000 and 2015, 102 476 patients were admitted to public hospitals in Portugal due to uterine leiomyomas. The majority were admitted to hospital for surgery: 73.6 % for hysterectomy and 13.0 % for myomectomy. During this period, the definitive treatment (hysterectomy) decreased from 83.2% to 63.0% (p < 0.001), with a change towards more conservative treatments such as myomectomies (6.4% to 22.6%, p < 0.001). Additionally, in women submitted to hysterectomy, laparoscopic and vaginal routes increased (1.1%-11.5%, p < 0.001 and 2.1%-4.0%, p < 0.001; respectively). Globally, there was a 14.3 % reduction in hospitalizations due to uterine fibroids and an increase in the outpatient rate (from 3.1% to 22.1%). The mean number of hospitalization days for inpatients also decreased (from 6.3 ± 4.1-4.0 ± 3.0, p < 0.001). Regarding urgently hospitalized women, 11.8 % required a blood transfusion. In women submitted to surgical procedures, 0.5 % had an intraoperative complication and 2.3 % a post-operative complication, directly related to the surgical procedure. CONCLUSION: There was a reduction in hospitalizations due to uterine fibroids and a change towards more conservative treatments.

Management of symptomatic uterine fibroids with ulipristal acetate: A retrospective, multicentric and nationwide study.

OBJECTIVE: To evaluate symptomatic uterine fibroid outcomes following at least one course of ulipristal acetate (UPA) 5 mg/day therapy in the hospital setting, during the year 2017. STUDY DESIGN: A retrospective and descriptive analysis involving women with symptomatic fibroids was conducted in 15 hospital centers in Portugal in 2017 to assess fibroid size, bleeding control and hemoglobin levels following at least one course of UPA 5 mg/day. Secondary outcomes were the reasons for the treatment, type of surgery, fibroid classification, patient satisfaction with the treatment, and adverse events. RESULTS: Five-hundred and twenty-six patients were enrolled in this survey, and 93 % of the women completed, at least, 1 treatment course with UPA. Uterine bleeding control was achieved in 81 % of the cases. A significant increase (p < 0.001) in hemoglobin levels and a reduction (p < 0.001) in uterine fibroid size was observed after treatment, with a median reduction of 24 % from the baseline. Forty-seven percent of the patients underwent subsequent surgery and there were no serious adverse events reported in this multicentric nationwide study. CONCLUSIONS: So far, this is the largest case series reporting on symptomatic uterine fibroid outcomes after UPA therapy in Portugal. Our data are in line with published literature and confirm favorable outcomes after UPA therapy for women of childbearing age and premenopausal.

Successful management of a rudimentary uterine horn ectopic pregnancy by combining methotrexate and surgery: A case report.

Pregnancy in a non-communicating rudimentary uterine horn is rare but presents a significantly increased risk of maternal and foetal morbidity due to uterine rupture. We describe a case of rudimentary horn pregnancy diagnosed in the first trimester in an asymptomatic and haemodynamically stable woman. Medical termination of the pregnancy was performed with systemic and intrasacular methotrexate. Laparoscopic uterine horn excision was performed three months after termination. This case shows that early diagnosis of a rudimentary horn pregnancy is key to the successful management of this condition. Preoperative medical termination in an asymptomatic woman proved to be an effective and safe option that minimized surgical risks.

Live birth after treatment of a spontaneous ovarian heterotopic pregnancy: A case report.

Spontaneous heterotopic pregnancies occur in about 1/30000 pregnancies, with the ovarian subtype comprising 2.3% of the total. We report the case of a healthy 32-year-old woman, gravida 4, para 3, who presented to the emergency room with severe abdominal pain. Two weeks earlier, pelvic ultrasound had revealed a 6-week intrauterine pregnancy. She was hemodynamically stable, but had rebound tenderness on the right iliac fossa. Transvaginal ultrasound revealed an evolutive intrauterine pregnancy with a gestational age (GA) of 8 weeks, with a synchronous evolutive adnexal pregnancy of the same GA and some free fluid in the pouch of Douglas. She underwent an urgent laparoscopy which showed an intact gestational sac containing an embryo on the right ovary associated with mild hemoperitoneum. An ovarian wedge resection was performed to preserve ovarian tissue. The intrauterine pregnancy had no complications and the patient delivered vaginally at term. Heterotopic pregnancy is potentially life-threatening. Despite being extremely rare after natural conception, and even more so in the absence of major risk factors, it should be considered in any pregnant woman with abdominal pain. A high index of suspicion is important for a prompt diagnosis, selection of the appropriate surgical treatment and successful obstetric outcomes.

Extraocular Muscles Involvement as the Initial Presentation in Metastatic Breast Cancer.

Orbital metastasis is a rare event, and metastatic disease affecting the extraocular muscles is an even less frequent complication of solid tumors. Herein, we report an unusual case of ptosis as the initial presentation of an invasive breast cancer. A 68-year-old woman presented with III and VI partial nerve paresis, secondary to a compressive retrobulbar mass. Magnetic resonance imaging revealed an infiltrative lesion involving the extraocular muscles. Tissue biopsy yielded a result compatible with metastasis to the orbit, with immunohistochemistry analysis suggesting breast as the primary organ. Mammography identified an area of architectural distortion; stereotactic wire-guided biopsy confirmed the result of the previous orbital biopsy. A positron emission tomography scan demonstrated disseminated disease. Palliative chemotherapy with bone-modulating agents and subsequent hormonal therapy was proposed. Unfortunately, the patient did not respond to therapy and died 38 months after diagnosis.

Survey on Aesthetic Vulvovaginal Procedures: What do Portuguese Doctors and Medical Students Think? / Inquérito sobre procedimentos estéticos vulvovaginais: qual a opinião dos médicos e estudantes de medicina portugueses?

Abstract Objective To assess themedical doctors andmedical students' opinion regarding the evidence and ethical background of the performance of vulvovaginal aesthetic procedures (VVAPs). Methods Cross-sectional online survey among 664 Portuguese medical doctors and students. Results Most participants considered that there is never or there rarely is amedical reason to perform: vulvar whitening (85.9% [502/584]); hymenoplasty (72.0% [437/607]); mons pubis liposuction (71.6% [426/595]); "G-spot" augmentation (71.0% [409/576]); labia majora augmentation (66.3% [390/588]); labia minora augmentation (58.3% [326/559]); or laser vaginal tightening (52.3%[313/599]).Gynecologists and specialistsweremore likely to consider that there are no medical reasons to performVVAPs; the opposite was true for plastic surgeons and students/residents. Hymenoplasty raised ethical doubts in 51.1% (283/554) of the participants. Plastic surgeons and students/residents were less likely to raise ethical objections, while the opposite was true for gynecologists and specialists. Most considered that VVAPs could contribute to an improvement in self-esteem(92.3% [613/664]); sexual function (78.5% [521/664]); vaginal atrophy (69.9% [464/664]); quality of life (66.3% [440/664]); and sexual pain (61.4% [408/664]). Conclusions While medical doctors and students acknowledge the lack of evidence and scientific support for the performance of VVAPs, most do not raise ethical objections about them, especially if they are students or plastic surgeons, or if they have had or have considered having plastic surgery.

Resumo Objetivos Avaliar a opinião de médicos e estudantes de medicina relativamente à evidência e contexto ético para a realização de procedimentos estéticos vulvovaginais (PEVVs). Métodos Estudo transversal, consistindo de inquérito online a 664 médicos e estudantes de medicina portugueses. Resultados A maioria dos participantes considerou que nunca ou raramente há uma razão médica para a realização de: branqueamento vulvar (85,9% [502/584]); himenoplastia (72,0% [437/607]); lipoaspiração do mons pubis (71,6% [426/595]); aumento do "ponto G" (71,0% [409/576]); aumento dos grandes lábios (66,3% [390/588]); aumento dos pequenos lábios (58,3% [326/559]) ou aperto vaginal com laser (52,3% [313/599]). Ser ginecologista e especialista associou-se a maior probabilidade de considerar não haver razões médicas para a realização de PEVV; o oposto foi verdade para os cirurgiões plásticos e estudantes/internos. A himenoplastia levantou dúvidas em termos éticos em 51,1% (283/554) dos participantes. Cirurgiões plásticos e estudantes/internos relatarammenos dúvidas emtermos éticos; o oposto foi verdade para os ginecologistas ou especialistas. Amaioria considerou que os PEVVs podemcontribuir para uma melhoria na autoestima (92,3% [613/664]); função sexual (78,5% [521/664]); atrofia vaginal (69,9% [464/664]); qualidade de vida (66,3% [440/664]); e dor sexual (61,4% [408/664]). Conclusões Ainda que os médicos e estudantes de medicina reconheçam a falta de evidência e bases científicas para a realização de PEVVs, a maioria não levanta objecções em termos éticos, especialmente se forem estudantes, cirurgiões plásticos, ou se eles próprios tiverem sido submetidos a cirurgia plástica ou considerem vir a sê-lo.

Deep Infiltrating Endometriosis-Urinary Tract Involvement and Predictive Factors for Major Surgery.

OBJECTIVE: To evaluate urinary tract involvement by deep infiltrating endometriosis as well as the surgical treatment and existence of predictive factors for major urologic surgery. METHODS: We conducted a retrospective analysis of 656 women submitted to surgery for endometriosis, of which 28 patients underwent minor or major surgery for deep infiltrating endometriosis involving the urinary tract, with a mean age of 38 ± 6.9 years (27-50) at diagnosis. Clinical data, surgeries performed, and complications were analyzed. Minor surgery was defined by endoscopic surgery or insertion of a percutaneous nephrostomy catheter, and major surgery included open or laparoscopic procedures. RESULTS: Endometriomas affected the ureter in 13 (46.4%), the bladder in 11 (39.3%), and both structures in 4 (14.3%) patients. Twelve (42.9%) patients had decreased renal function, and ureteral involvement was predictive of renal function loss (P = .034). Minor surgeries were performed in most women with isolated bladder involvement and in 12 (42.9%) patients with ureteral infiltration. Patients with ureteric involvement underwent major surgeries more often (n = 12 vs n = 3; P = .025) and had longer hospitalization (8.2 vs 3.1 days, P = .05). After a mean follow-up of 36.3 (1-102) months, there was no bladder involvement recurrence. The most common complication was ureteral stenosis (Clavien-Dindo grade IIIb) in 3 (10.7%) patients. CONCLUSION: Surgery is highly successful in most cases. Patients with ureteric involvement are more likely to lose kidney function, undergo major surgery, and have longer hospitalization.

Update on medical treatment of uterine fibroids.

OBJECTIVES: In this review paper, the pros and cons of the available pharmacological options for the treatment of uterine fibroids are explored, including oral progestogens, levonorgestrel intra-uterine device, gonadotropin-releasing hormone analogs and progesterone receptor modulators with an emphasis on ulipristal acetate. STUDY DESIGN: The choice of the appropriate therapeutic approach for uterine fibroids depends on several factors, including women's age, parity, childbearing aspirations and wish to preserve fertility, extent and severity of symptoms, size, number and location of myomas, risk of malignancy and proximity to menopause. Some treatment algorithms have been proposed for uterine fibroids, considering both efficacy and safety data from clinical trials, and women characteristics and choices. Therefore, we propose two optimized treatment algorithms for the treatment of uterine fibroids, one for the treatment of uterine fibroids in women of reproductive age with the desire to spare reproductive capacity, and another for the treatment of uterine fibroids in women >40years with no desire for pregnancy. RESULTS: Symptoms associated with uterine fibroids may significantly impair a patient quality of life. Therapy includes surgery, which may range from a hysterectomy to several other uterus-sparing techniques and several different types of pharmacological therapies. Studies with ulipristal acetate have provided a change of paradigm in the treatment of uterine fibroids, demonstrating the efficacy and favorable tolerability profile, not only for the preoperative treatment of moderate to severe fibroid-associated symptoms, but also, and very importantly, for the long-term medical management of patients with symptomatic fibroids.