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We report the case of a 36-year-old woman with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, and corticosteroid replacement therapy since birth. She manifested persistent virilization and high testosterone levels that were attributed to nonadherence to medical treatment. The patient was referred to our gender unit for genitoplastic surgery. We recommended the patient for left oophorectomy after detecting an ovarian mass. Pathologic findings confirmed an ovarian hilus cell tumor. Testosterone levels fell back to normal and masculinization disappeared but ACTH remained elevated. This case represents a very rare type of primary ovarian tumor that must be considered in persistent virilizing symptoms in women with CAH.

The aim of the present study was to evaluate the presence of symptoms of current social distress, anxiety and depression in transsexuals.We investigated a group of 187 transsexual patients attending a gender identity unit; 120 had undergone hormonal sex-reassignment (SR) treatment and 67 had not. We used the Social Anxiety and Distress Scale (SADS) for assessing social anxiety and the Hospital Anxiety and Depression Scale (HADS) for evaluating current depression and anxiety.The mean SADS and HADS scores were in the normal range except for the HAD-Anxiety subscale (HAD-A) on the non-treated transsexual group. SADS, HAD-A, and HAD-Depression (HAD-D) mean scores were significantly higher among patients who had not begun cross-sex hormonal treatment compared with patients in hormonal treatment (F=4.362, p=.038; F=14.589, p=.001; F=9.523, p=.002 respectively). Similarly, current symptoms of anxiety and depression were present in a significantly higher percentage of untreated patients than in treated patients (61% vs. 33% and 31% vs. 8% respectively).The results suggest that most transsexual patients attending a gender identity unit reported subclinical levels of social distress, anxiety, and depression. Moreover, patients under cross-sex hormonal treatment displayed a lower prevalence of these symptoms than patients who had not initiated hormonal therapy. Although the findings do not conclusively demonstrate a direct positive effect of hormone treatment in transsexuals, initiating this treatment may be associated with better mental health of these patients.

Familial studies and reports of co-occurrence of gender identity disorder (GID) within a family may help to clarify the question of whether transsexualism is a familial phenomenon. In a sample of 995 consecutive transsexual probands (677 male-to-female [MF] and 318 female-to-male [FM]), we report 12 pairs of transsexual non-twin siblings (nine pairs of MF siblings, two pairs of MF-FM siblings, and one pair of FM siblings). The present study doubles the number of case reports of co-occurrence of transsexualism in non-twin siblings available in the literature. According to our data, the probability that a sibling of a transsexual will also be transsexual was 4.48 times higher for siblings of MF than for siblings of FM transsexual probands, and 3.88 times higher for the brothers than for the sisters of transsexual probands. Moreover, the prevalence of transsexualism in siblings of transsexuals (1/211 siblings) was much higher than the range expected according to the prevalence data of transsexualism in Spain. The study suggests that siblings of transsexuals may have a higher risk of being transsexual than the general population, and that the risk is higher for brothers than sisters of transsexuals, and for siblings of MF than FM transsexuals. Nevertheless, the risk is low.

Recognition of transexuality as a clinical entity for which medical attention should be available is currently a well-established reality, but institutional care has not been uniformly instituted throughout Spain. The aim of the present study was to determine the current situation of healthcare for transexualism in the publicly-funded health service in Spain.A descriptive study based on data provided by the Spanish Society of Endocrinology Group on Identity and Sexual Differentiation was performed. The resources in the regions that have created specific gender units for these disorders are described.Nine autonomous regions (55%) have started to provide various procedures, although only four provide genitoplastic procedures. The first region to include all sex reassignment surgeries was Andalusia (year 1999). At the same time, Madrid and Catalonia also began to provide specialized mental health care and endocrinology but did not include surgical procedures until 2007 and institutional recognition until 2008. Since 2007 other regions have incorporated healthcare for transsexual patients. Overall, 3,303 patients (a male-to female/female-to-male transsexual ratio of 1.9/1) and 864 surgical procedures have been registered in this study. The composition and proportion of working hours of specialists, as well as the kinds of treatments provided, differ widely in each region.The geographical distribution of healthcare to transsexual persons and the services provided vary. Few regions offer genitoplastic procedures. The number of applicants exceeds the number estimated by the national health system.

Discordances exist in epidemiological studies regarding the association between the intake of nutrients and death and disease. We evaluated the social and health profile of persons who consumed olive oil in a prospective population cohort investigation (Pizarra study) with a 6-year follow-up. A food frequency questionnaire and a 7d quantitative questionnaire were administered to 538 persons. The type of oil used in food preparation was determined by direct measurement of the fatty acids in samples obtained from the kitchens of the participants at baseline and after follow-up for 6 years. The fatty acid composition of the serum phospholipids was used as an endogenous marker of the type of oil consumed. Total fat intake accounted for a mean 40% of the energy (at baseline and after follow-up). The concordance in intake of MUFA over the study period was high. The fatty acid composition of the serum phospholipids was significantly associated with the type of oil consumed and with fish intake. The concentration of polar compounds and polymers, indicative of degradation, was greater in oils from the kitchens where sunflower oil or refined olive oil was used, in oils used for deep frying and in oils that had been reused for frying five times or more. Consumption of olive oil was directly associated with educational level. Part of the discordance found in epidemiological studies between diet and health may be due to the handling of oils during food preparation. The intake of olive oil is associated with other healthy habits. © 2009 The Authors., The present study was supported by Fondo de Investigación Sanitaria (PI041883, PI051307), Junta de Andalucía (0124/2005, P06-CTS-01 684) and Fundación Centro de Excelencia en Investigación sobre Aceite de oliva y Salud (CEAS). CIBERDEM and CIBEROBN are initiatives of Instituto de Salud Carlos III, Spain.

Three Western studies have shown that male-to-female (MF) homosexual transsexuals tend to be born later than their siblings and to come from sibships with more brothers than sisters. The objective of this study was to determine whether these variables would be replicated in 530 MF and female-to-male (FM) Spanish transsexuals according to sexual orientation. The results showed that MF homosexual transsexuals had significantly more older brothers than the non-homosexual MF group. Compared with the expected rates in the general population, birth order was significantly higher in both MF (Slater’s Index = 0.59; Fraternal Index = 0.61; Sororal Index = 0.58) and FM homosexual transsexuals (Slater’s Index = 0.65; Fraternal Index = 0.68; Sororal Index = 0.67), and sibling sex ratio was significantly higher than expected in homosexual MF (sex ratio = 0.55) but not in homosexual FM transsexuals. No significant differences were found in the non-homosexual subgroups. The replication of the later birth order and sibling sex-ratio effect in MF homosexual transsexuals corroborates previous findings in a variety of groups from different cultures and may suggest a common mechanism underlying the etiology of transsexualism.

Summary Objective Numerous genes have been associated with the risk for type 2 diabetes mellitus (DM2). In an attempt to understand how specific variants of different genes interact and intervene in the molecular and physiological mechanisms of disorders such as diabetes or insulin resistance, the search for gene–gene interactions is constantly growing. We searched for a possible interaction between two polymorphisms (Trp64Arg of ADRB3 gene and –75G/A of APOA1gene) and the risk for DM2 in a population from southern Spain. Design and methods A cross-sectional study in southern Spain of 1020 people, aged 18–65 years. All persons underwent a clinical, anthropometrical and biochemical evaluation, including an oral glucose tolerance test (OGTT). Insulin resistance was measured by homeostasis model of assessment (HOMA). The polymorphisms –75G/A of APOA1 and Trp64Arg of ADRB3 were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and real-time PCR, respectively. Results The genotype frequencies of the –75G/A polymorphism of the APOA1 gene were 62·7% GG, 25·7% GA and 11·6% AA, whereas for the Trp64Arg polymorphism of the ADRB3 gene, they were 87·5% Trp/Trp, 11·7% Trp/Arg and 0·8% Arg/Arg. Subjects with both gene variants had a greater odds ratio (OR) of having DM2 [OR = 5·5; 95% confidence interval (CI) = 1·2–23·5] than persons with one or none of the variants, after adjusting for age, sex, body mass index (BMI) and homeostasis model assessment of insulin resistance (HOMA-IR). Conclusions Joint association of allele –75A (APOA1) and allele Arg64 (ADRB3) increase the risk of DM2 in a population from southern Spain.