Difficulties of gender affirming treatment in trans women with BRCA1+ mutation: A case report.

Gender affirming treatment in transgender women is based on a combination of antiandrogens and estrogens, with the latter maintained over the long term. When prescribing these treatments, we must consider the possibility of developing estrogen-dependent breast cancer. In transgender women, a breast cancer incidence of 4.1 per 100,000 has been estimated, which would increase the risk by 46% in relation to cisgender men but decrease it by 70% in relation to cisgender women. It is known that certain gene mutations such as BRCA1 imply an increased risk of breast cancer, but at present the risk in transgender women with BRCA1 treated with estrogens is not well established. We present the case of a transgender woman with a family history of breast cancer and BRCA1 mutation and the therapeutic decisions made in a multidisciplinary team. Following this case, we review and discuss the published literature.

Healthcare and Indirect Cost of the Laparoscopic vs. Vaginal Approach in Benign Hysterectomy.

Background and Objectives: The aim of this study was to analyze indirect costs of vaginal and laparoscopic routes for hysterectomy to determine whether this makes a difference in total costs when considering route for surgery. Methods: A five-year observational retrospective cohort study was conducted in an academic tertiary care center. A total of 517 patients scheduled for total laparoscopic hysterectomy (n = 137) and vaginal hysterectomy (n = 380) for benign conditions between January 1, 2008 and December 31, 2012 meeting inclusion criteria were reviewed. Results: Indirect costs were higher in the vaginal hysterectomy group compared to the laparoscopic hysterectomy group (mean cost €3,239.86 vs. €1,371.58; cost increase of €1,868.28; p < .001). Indirect costs due to lost-work-productivity were the most important, represented by 97.7% in the vaginal group and 93.6% in the laparoscopic group. Conclusion: Among women undergoing hysterectomy for benign disease, laparoscopic hysterectomy appears to be superior to vaginal hysterectomy when indirect costs are analyzed in a five-year temporal horizon. Laparoscopic hysterectomy is a good alternative to vaginal hysterectomy when technically feasible as both present comparable advantages. The surgical approach to hysterectomy should be decided in light of the relative benefits and hazards, which will depend on clinical circumstances and surgical expertise.

Mola invasiva en adolescente de 13 años. Aspectos fundamentales del diagnóstico y tratamiento / Invasive mola in 13-year-old girl. Fundamental aspects in diagnosis and treatment

Resumen ANTECEDENTES: La neoplasia gestacional trofoblástica es un tumor raro, derivado de la gestación que procede de un desarrollo anormal del tejido trofoblástico. Incluye cuatro variedades, entre las que se encuentra la mola invasiva y el coriocarcinoma. Puede tener diferentes grados de proliferación; el diagnóstico diferencial es decisivo porque influye directamente en el tratamiento. Las molas premalignas suelen tratarse con legrado uterino, las malignas requieren tratamiento sistémico con mono o poliquimioterapia. CASO CLÍNICO: Paciente de 13 años, hospitalizada debido a un cuadro de vómitos y dolor abdominal. Durante el internamiento se le practicaron estudios complementarios: determinación de la fracción β de la gonadotropina coriónica humana (β-hCG) y tomografía axial computada para plantear el diagnóstico diferencial. El diagnóstico definitivo lo aportó la biopsia obtenida mediante legrado. El tratamiento se basó en la poliquimioterapia. En la actualidad está en remisión completa de la enfermedad. CONCLUSIONES: Resulta imprescindible detectar lo más temprano posible la gestación anómala, entender perfectamente su evolución e importancia de la anticoncepción mientras se trata y la enfermedad desaparece y minimizar la cantidad de pacientes que deben recibir quimioterapia.

Abstract BACKGROUND: Gestational trophoblastic neoplasia is a rare tumor that originates from pregnancy and it develop from anormal proliferation of trophoblastic tissue. It includes four varieties, including invasive mole and choriocarcinoma. They can present different degrees of proliferation, being essential differential diagnosis since it directly influences the treatment. Premalignant moles are usually treated by suction curettage while malignant forms require systemic therapy with mono or polychemotherapy. OBJECTIVE: Report the case, paying special attention to the differential diagnosis and treatment used, analyzing the reasons why polychemotherapy is established and describing the different possible options, based on current scientific evidence. CLINICAL CASE: We present the case of an invasive mola in a 13-year-old patient hospitalized by vomiting and abdominal pain. During this period, complementary techniques such as the determination of the β fraction of the human chorionic gonadotropin (β-hCG) or computed tomography (CT) are required to establish the differential diagnosis. Finally, the definitive diagnosis is provided by the biopsy obtained by curettage. Treatment is instituted with the pattern of polychemotherapy being, currently, with complete remission of the disease. CONCLUSIONS: Thus, it is essential to detect anomalous gestation early, to understand perfectly the evolution of this entity, the importance of contraception during its resolution, and to minimize patients susceptible to chemotherapy.

Long term COST-minimization analysis of robot-assisted hysterectomy versus conventional laparoscopic hysterectomy.

BACKGROUND: The aim of this study is to carry out the economic evaluation, in term of a cost-minimization analysis that considers healthcare costs and indirect costs, of robot-assisted hysterectomy (RAH) compared with conventional laparoscopic hysterectomy (CLH) in female adults scheduled for total laparoscopic hysterectomy for benign conditions. METHODS: Cost-minimization analysis based on an analytic observational study of prospective cohorts with a five-year time horizon. Eligible participants were all female adults scheduled for total laparoscopic hysterectomy for benign conditions at tertiary hospital. The economic evaluation was conducted from a Spanish National Health Service and societal perspective, including healthcare costs and indirect costs. The costs are expressed in Euros from the year 2015. RESULTS: One hundred sixty nine patients were analyzed, 68 in the RAH group and 101 in the CLH group. Average cost for the RAH group was €8982.42 compared to €8015.14 for the CLH group (incremental cost €967.27; p = 0.054). Healthcare cost is the most important component of total cost and represents 86.4% for the RAH group and 82.3% for the CLH group. The difference of €1169 (p = 0.01) in the average healthcare cost is mainly due to the cost of purchasing and maintaining the equipment (difference of €1206.39 in favor of RAH; p < 0.005). With regard to indirect costs, for patients in the RAH group the costs associated with loss of productivity were lower (difference of €203.42; p = 0.17), while the cost of trips to the hospital was higher (difference of €1.98; p = 0.66) in respect to CLH. CONCLUSIONS: Our findings reveal similar effectiveness between RAH and CLH, although CLH is the more efficient option from the point of view of an economic analysis based on cost-minimization.

Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients.

17α-hydroxylase/17,20-lyase deficiency is a rare form of congenital adrenal hyperplasia caused by mutations in CYP17A1. Two phenotypic female sisters, aged 17 and 15 years and with 46,XY and 46,XX karyotypes, respectively, presented with primary amenorrhea and absent secondary sexual characteristics. The elder sib also presented with high blood pressure. Both patients had elevated levels of ACTH, gonadotropins, progesterone, corticosterone, and deoxycorticosterone, and reduced levels of estradiol, testosterone, androstenedione, 17-OH-P, DHEA-S, cortisol, aldosterone, and renin activity. The CYP17A1 gene was sequenced, and polymorphic haplotypes were further analyzed in the Spanish family and in Brazilian patients. The 2 sisters were compound heterozygous for p.Arg362Cys and p.Trp406Arg mutations, previously described as the most prevalent mutations in Brazilian families of Spanish (p.Trp406Arg) or Portuguese (p.Arg362Cys) origin. Analysis of polymorphisms in CYP17A1 suggested that the paternal allele with p.Arg362Cys may share a common origin with the Brazilian carriers, while the maternal allele with p.Trp406Arg did not. Hydrocortisone and sex hormone replacement therapy was initiated in both patients. In conclusion, one CYP17A1 mutation (p.Arg362Cys) may share a common ancestry in Brazilian and our present Spanish patients, while p.Trp406Arg may have arisen separately. The elder patient (46,XY) developed a more severe phenotype and a poorer response to estradiol replacement therapy.

Total laparoscopic hysterectomy with and without robotic assistance: a prospective controlled study.

BACKGROUND: Hysterectomies are very common, and most of them are still performed abdominally. The minimally invasive alternatives are perceived as difficult by gynecologists. Robotic assistance is thought to facilitate laparoscopic surgery. The aim of this study was to compare the surgical outcomes of robotic-assisted and conventional total laparoscopic hysterectomy. METHODS: Patients, candidate to hysterectomy for benign indications, were allocated to either robotic or conventional laparoscopy in a quasi-randomized fashion. Patients were operated following a standardized surgical protocol. Main outcome measures were total surgical time, conversions to laparotomy, blood loss, hospital stay, and complications. RESULTS: Fifty-one patients underwent robotic hysterectomy (mean age = 46.59 years) and 54 conventional laparoscopy (mean age = 50.02 years). The groups were homogeneous in body mass index and uterine weight. Robotic-assisted hysterectomies were significantly shorter (154.63 ± 36.57 vs 185.65 ± 42.98 minutes in the control group; P = .0001). Patients in the robotic group also had a significantly smaller reduction in hemoglobin (9.69% ± 8.88% vs 15.29% ± 8.39% in controls; P = .0012) and hematocrit (10.56% ± 8.3% vs 14.89% ± 8.11%; P = .008). No intraoperative conversions to laparotomy were required. Complication rate was low and similar in both groups. All patients were fully recovered at 1-month follow-up outpatient visit. CONCLUSIONS: Significantly lower operative times and blood loss indicate that robotic assistance can facilitate surgery already during the learning curve period. Nevertheless, proficiency can be reached in conventional laparoscopy through training, and the cost-effectiveness of robotic hysterectomy for benign conditions is yet to be confirmed.

Panoramic radiomorphometry and vertebral fractures in Spanish postmenopausal women.

OBJECTIVE: To evaluate the relationship between panoramic radiomorphometric indexes, and the presence of osteoporotic fractures in a Spanish postmenopausal women. METHODS: A sample of 120 women (60 with fragility spine fractures and 60 healthy), aged 55-70 years, with fragility spine fractures, were included in this cross-sectional study that was conducted from 2008 to 2011. All the women were referred to undergo a radiological spine examination, spinal densitometry and a panoramic radiograph for assessing osteoporosis using 3 radiomorphometric indexes: Panoramic Mandibular Index (PMI), Mental Index (MI) and Mandibular Cortical Index (MCI). According to mandibular cortical shape, in MCI, three groups were defined: C3 (osteoporosis), C2 (osteopenia), C1 (health). RESULTS: Significant differences were found between all the MCI groups due to their composition between fractures and non-fractures. C1 group (healthy) has less fractures women than C2 (Bonferroni p<0.001), C1 has less fractures than C3 (Bonferroni p<0.001) and finally, C2 has less fractures than C3 (Bonferroni p<0.006). PMI and MI values were significantly lower in cases than in controls (U Mann-Whitney p<0.001). CONCLUSIONS: Panoramic radiomorphometrics mandibular indexes such as MCI, PMI, and MI, may be useful for identifying the population at higher risk for fracture. The relationship between panoramic index and osteoporosis remains unclear and further studies using fragility fracture as a real marker of osteoporosis are warranted to clarify the exact role and effect of one condition on the other and the corresponding clinical implications.

Osteoporosis, fragility fracture, and periodontal disease: a cross-sectional study in Spanish postmenopausal women.

OBJECTIVE: Osteoporosis and periodontitis are common disorders that affect aging populations. It has been hypothesized that both conditions may be related. The aim of this study was to evaluate the relationship between osteoporosis and periodontitis using vertebral fragility fracture as a real marker of osteoporosis and periodontal clinical examination to define periodontitis. METHODS: Six hundred thirty-four women aged 55 to 70 years, with fragility spine fractures, and living in the same healthcare region of Seville, Spain, were invited to take part in this cross-sectional study conducted from 2008 to 2010. All the women included in the study were referred to undergo spine radiological examination, spinal densitometry, and full-mouth periodontal assessment. RESULTS: With the exception of number of teeth (19 in the fractured postmenopausal group and 23 in the control group; P < 0.007) and sites with a clinical attachment level lower than 7 mm (P < 0.048), there were no significant differences in clinical and periodontal parameters among women in the fractured postmenopausal group and the control group. In short, fractured postmenopausal women have lost more teeth with more advanced attachment loss (clinical attachment level >7 mm). None of the definitions of periodontitis used resulted in significant differences between groups. CONCLUSIONS: The relationship between periodontitis and osteoporosis remains unclear, and further studies considering fragility fracture as a real marker of osteoporosis are warranted to clarify the exact role and effect of one condition on the other and the corresponding clinical implications.