Sexuality and fertility desire in a large cohort of individuals with 46, XY differences in sex development

Objective: To analyze aspects of sexual life and fertility desire among 46, XY DSD people, including those who changed their gender. Methods: It is a cross-sectional study including 127 adults (> 16 years of age) with 46, XY DSD (83 females; 44 males) from a Single Brazilian Tertiary-Care Medical Center. Results: Sexual fantasies and masturbation were more frequent in 46, XY DSD males, whereas orgasm and sexual life satisfaction were similar in both genders. More 46, XY DSD men than women had a long-term romantic relationship. 46, XY DSD women with prenatal androgen exposure reported more fear of being romantically rejected. External genitalia appearance at birth did not impact the sexuality of 46, XY DSD women after surgical genital treatment had been completed. Overall, the sexual life was similar between 46, XY men assigned as males and those who changed to the male gender. Regarding sexual orientation, most self-reported as heterosexual (91% and 92% of women and men, respectively). The desire for fertility had a similar prevalence in both genders, but more women than men considered infertility a barrier to a long-term romantic relationship. Twelve individuals (7 males) had children; 10 out of 12 have adopted children. Conclusion: Fertility desire was shared among 46, XY DSD people, regardless of gender. Prenatal androgen exposure reduced the desire for motherhood in 46, XY women. 46, XY DSD people who changed from female to male gender presented similar sexual parameters as those assigned as males. Among females, virilized genitalia at birth did not affect sexuality once the surgical treatment is completed

Fructosamine and glycated hemoglobin as biomarkers of glycemic control in people with type 2 diabetes mellitus and cancer (GlicoOnco study)

Introduction: Glycemic control is important to avoid diabetes complications in individuals with cancer. There is no evidence for HbA1c and fructosamine as reliable biomarkers in these conditions. There are particularities in caring for patients with diabetes and cancer that can alter these biomarkers. Objective: The aim of this study was to evaluate HbA1c and fructosamine as glycemic biomarkers in people with type 2 diabetes and cancer, undergoing clinical or surgical oncological treatment. Methods: The authors conducted a single-center, retrospective analysis with people who have cancer and diabetes. Comparison of glycemic biomarkers (HbA1c, fructosamine, and Self-Monitoring of Blood Glucose [SMBG]) was performed including evaluation in individuals undergoing chemotherapy, using glucocorticoids, with anemia, hypoproteinemia or with reduced estimated Glomerular Filtration Rate (eGFR). Results: There was a strong positive correlation between fructosamine and HbA1c (n = 318, r = 0.66, p < 0.001) in people with diabetes and cancer even in those under chemotherapy (n = 101, r = 0.61, p < 0.001) or using glucocorticoids (n = 96, r = 0.67, p<0.001). There was a strong correlation between HbA1c and fructosamine in subjects with anemia (n = 111, r = 0.66, p < 0.001), hypoproteinemia (n = 54, r = 0.67, p < 0.001), or with eGFR ≥ 60 mL/min/1.73 m2 (n = 189, r = 0.70, p < 0.001), and moderate correlation with hypoalbuminemia (n = 21, r = 0.54, p = 0.001) and with reduced eGFR (n = 67, r = 0.57, p < 0.001). The correlations between fructosamine and HbA1c with SMBG were moderate (n = 164, r = 0.49, p < 0.001; n = 111, r = 0.55, p < 0.001, respectively), strong in subjects undergoing chemotherapy, with hypoalbuminemia or hypoproteinemia, and at least moderate, if eGFR < 60 mL/min/1.73 m2 or with anemia. Conclusions: Fructosamine and HbA1c can be used as glycemic biomarkers in people with diabetes and cancer, even in those with anemia, hypoproteinemia, or undergoing chemotherapy

Long‐term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/145419/1/cen13717_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/145419/2/cen13717.pd

Search for dark matter produced in association with bottom or top quarks in √s = 13 TeV pp collisions with the ATLAS detector

A search for weakly interacting massive particle dark matter produced in association with bottom or top quarks is presented. Final states containing third-generation quarks and miss- ing transverse momentum are considered. The analysis uses 36.1 fb−1 of proton–proton collision data recorded by the ATLAS experiment at √s = 13 TeV in 2015 and 2016. No significant excess of events above the estimated backgrounds is observed. The results are in- terpreted in the framework of simplified models of spin-0 dark-matter mediators. For colour- neutral spin-0 mediators produced in association with top quarks and decaying into a pair of dark-matter particles, mediator masses below 50 GeV are excluded assuming a dark-matter candidate mass of 1 GeV and unitary couplings. For scalar and pseudoscalar mediators produced in association with bottom quarks, the search sets limits on the production cross- section of 300 times the predicted rate for mediators with masses between 10 and 50 GeV and assuming a dark-matter mass of 1 GeV and unitary coupling. Constraints on colour- charged scalar simplified models are also presented. Assuming a dark-matter particle mass of 35 GeV, mediator particles with mass below 1.1 TeV are excluded for couplings yielding a dark-matter relic density consistent with measurements

Behavioral and psychosexual aspects of 46,XY DSD individuals at adulthood

Introdução: O desenvolvimento psicossexual humano inicia no período pré-natal e é composto pelo papel de gênero (PG), pela identidade de gênero (IG) e pela orientação sexual (OS). Em indivíduos com DDS 46,XY, vários fatores podem comprometer esse desenvolvimento, levando a incongruência de identidade de gênero e à mudança de gênero. Nesses pacientes, a exposição androgênica pré-natal e o grau de virilização da genitália externa tem sido avaliados como possíveis influenciadores destes desfechos, mas seu papel ainda não foi esclarecido. Objetivos: Avaliar os desfechos psicossexuais - IG, PG e OS - e aspectos da vida sexual em uma coorte de indivíduos com DDS 46,XY na idade adulta com diagnostico etiológico caracterizado do ponto de vista clínico e molecular e investigar a influência da exposição androgênica pré-natal e do grau de virilização da genitália externa nesses desfechos e na prevalência de disforia de gênero (DG). Pacientes: 144 pacientes com diagnóstico etiológico confirmado de DDS 46,XY acompanhados do HCFMUSP com idade entre 16 e 60 anos foram incluídos neste estudo. Métodos: Os componentes do desenvolvimento psicossexual (IG, PG, OS) foram avaliados usando questionários e por teste psicológico projetivo (HTP - House-Tree-Person). O escore de Sinnecker foi utilizado para a mensuração do grau de virilização da genitália externa. A exposição androgênica pré-natal foi estimada de acordo com a etiologia do DDS 46,XY. Aspectos da vida sexual foram avaliados através de questionário específico.Todas as variáveis categóricas foram analisadas usando teste X². A força de associação foi avaliada pelo cálculo do V de Cramer. O índice kappa foi usado para avaliar concordância entre resultados dos testes. Resultados: Houve uma associação positiva entre exposição androgênica pré-natal e a maior incidência de desfechos psicossexuais masculinos em indivíduos com maior exposição. O grau de virilização da genitália externa não interferiu nos desfechos psicossexuais. Houve uma prevalência de 19% (27/144) de disforia de gênero em toda a coorte. Em 93% (25/27), a DG foi do sexo feminino para o masculino e ocorreu em 50% (16/32) de casos de deficiência de 5alfa-RD2, seguido de 33% (5/15) dos casos de deficiência da 17beta-HSD3 e se associou com exposição androgênica pré-natal (p < 001; V=0,461), mas não com a virilização da genitália externa. A mediana de idade do desejo de mudar de sexo foi de 8 anos (5 - 9) enquanto que a da idade da mudança de sexo foi 15 anos (10.5 - 20). Os desfechos psicossexuais mostraram maior concordância com o sexo social final (PG - k=0.81; IG - k=0.65 e OS - k=0.85) do que com o sexo de registro (PG - k=0.1; IG - k=0.25 e OS - k=0.15). Quanto a sexualidade, alguns parâmetros (fantasias sexuais, masturbação e parceiro sexual fixo) foram melhores no sexo masculino comparado ao feminino. No entanto, não houveram diferenças em relação aos parâmetros da vida sexual comparando indivíduos do sexo feminino com e sem atipia genital e indivíduos do sexo masculino que mantiveram o sexo social com os que mudaram para este sexo. Conclusões: A exposição androgênica pré-natal influenciou o desenvolvimento psicossexual em indivíduos com DDS 46,XY, de uma forma exposição-dependente, favorecendo desfechos masculinos, enquanto que o grau de virilização da genitália externa não influenciou estes desfechos. A DG do feminino para o masculino foi comum entre esses indivíduos e também foi influenciada pela exposição androgênica pré-natal. Os parâmetros psicossexuais nesses pacientes concorda muito mais com o sexo social final do que com o sexo de registro. A sexualidade dos indivíduos do sexo masculino tem aspectos mais satisfatórios que o feminino. Atipia genital no sexo feminino não afetou a sexualidade destas pacientes assim a sexualidade dos indivíduos que mudaram para o sexo masculino são semelhantes aos que foram registrados no sexo masculino Behavioral and Psychosexual Aspects of 46,XY DSD Individuals At AdulthoodIntroduction: The human psychosexual development begins at prenatal period and is composed by gender role, gender identity and sexual orientation. In 46,XY DSD individuals a variety of factors may jeopardize an adequate psychosexual development and sometimes results in desire to change the gender. The effects of prenatal androgen exposure and the impact of atypical genitalia in the psychosexual outcomes have been suggested as influencing factors in the human psychosexual development but there is not conclusive evidence, especially in DDS 46, XY. Methods: We evaluated the psychosexual compounds - gender role (GR) at childhood gender identity (GI) and sexual orientation (SO) in individuals a large cohort of 144 46,XY DSD individuals, 86% of them raised in the female social sex, from a single tertiary medical center. The same psychologist, specialized in DSD, performed the psychosexual evaluation. We used a questionnaire and a projective psychological test (HTP test) to measure the psychosexual compounds. Prenatal androgen exposure was estimated considering the 46,XY etiology. Sinnecker\'s score was used to measure the external genitalia virilization. All ordinal variables were analyzed using Wilcoxon test. Categorical variables were analyzed using X2 test with posterior Cramer\'s V to measure the association strength. The kappa index was calculated as a concordance measure. Results: We found an association between prenatal androgen exposure and major prevalence of male psychosexual outcomes and a higher incidence of female to male gender dysphoria. There was not difference in the psychosexual outcomes according by external genitalia virilization in male and in female individuals. There was an incidence of 19% of gender dysphoria (27 out from 144). In 93% (n=25), the gender change was from female to male (F to M). The ethological diagnosis related with F to M GD were 5alpha-RD2 deficiency (5ARD2) in 16/32 (50%), followed by 5/15 (33%) in 17beta-HSD3 deficiency (17betaHSD3). Others diagnosis related with F to M GD were: partial gonadal dysgenesis (n=3/24; 12%) and 3betaHSD2 (n=1/3; 33%). Both cases of male to female (M to F) GD occurred in partial gonadal dysgenesis (8%; n=2/24). The median of GD age (desire to belong to another gender) was 8 years old (5-9), and the median of gender change itself was 15 years old (10.5 - 20). In F to M GD, gender change was associated with prenatal androgen exposure (p < 001; V=0,461). The psychosexual components showed higher concordance index with final gender (GI - k=0.81; GI - k=0.65 and SO - k=0.85) then with the assigned sex (GI - k=0.1; GI - k=0.25 and SO - k=0.15). Conclusion: Prenatal androgen exposure affects the psychosexual development, favoring more male outcomes. This influence was observed in GI, GR and SO. The degree of external genitalia virilization did not influence the psychosexual development. Female to Male GD is common in 46,XY DSD raised in female social sex, especially in 5ARD2 and 17?HSD3 deficiencies. There is a strong relationship between prenatal androgen exposure and F to M GD. On the other hand, M to F gender change was rare in 46,XY DSD and occurred only in partial gonadal dysgenesis patient

False positive results using calcitonin as a screening method for medullary thyroid carcinoma

The role of serum calcitonin as part of the evaluation of thyroid nodules has been widely discussed in literature. However there still is no consensus of measurement of calcitonin in the initial evaluation of a patient with thyroid nodule. Problems concerning cost-benefit, lab methods, false positive and low prevalence of medullary thyroid carcinoma (MTC) are factors that limit this approach. We have illustrated two cases where serum calcitonin was used in the evaluation of thyroid nodule and rates proved to be high. A stimulation test was performed, using calcium as secretagogue, and calcitonin hyper-stimulation was confirmed, but anatomopathologic examination did not evidence medullar neoplasia. Anatomopathologic diagnosis detected Hashimoto thyroiditis in one case and adenomatous goiter plus an occult papillary thyroid carcinoma in the other one. Recommendation for routine use of serum calcitonin in the initial diagnostic evaluation of a thyroid nodule, followed by a confirming stimulation test if basal serum calcitonin is showed to be high, is the most currently recommended approach, but questions concerning cost-benefit and possibility of diagnosis error make the validity of this recommendation discussible