Introduction: Gender dysphoria (GD) is a condition in which there is a marked incongruence between an individual’s psychological perception of his/her sex and their biological phenotype. Gender identity disorder was officially renamed “gender dysphoria” in the DSM-V in 2013. The prevalence and demographics of GD vary according to geographical location and has not been well-documented in Ireland.Methods: We retrospectively reviewed medical records of 218 patients with suspected or confirmed GD referred to our endocrine service for consideration of hormonal therapy (HT) between 2005 and early 2014. We documented their demographics, clinical characteristics, and treatment during the study period.Results: The prevalence of GD in the Irish population was 1:10,154 male-to-female (MTF) and 1:27,668 female-to-male (FTM), similar to reported figures in Western Europe. 159 of the patients were MTF and 59 were FTM, accounting for 72.9% and 27.1% of the cohort, respectively. The rate of referral has increased year-on-year, with 55 patients referred in 2013 versus 6 in 2005. Mean ages were 32.6 years (MTF) and 32.2 years (FTM). 22 of the patients were married and 41 had children, with 2 others having pregnant partners. 37.6% were referred by a psychologist, with the remainder evenly divided between GPs and psychiatric services. There were low rates of coexistent medical illness although psychiatric conditions were more prevalent, depression being a factor in 34.4% of patients. 5.9% of patients did not attend a mental health professional. 74.3% are currently on HT, and 9.17% have had gender reassignment surgery (GRS). Regret following hormonal or surgical treatment was in line with other Western European countries (1.83%).Conclusion: The incidence of diagnosis and referral of GD in Ireland is increasing. This brings with it multiple social, health, and financial implications. Clear and accessible treatment pathways supported by mental health professionals is essential.
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Introduction: Malignant melanoma of the gastrointestinal tract is usually a metastasis from a cutaneous source. Primary gastric melanoma is an extremely rare clinical entity, with few reported cases worldwide. It is often advanced at time of diagnosis and is associated with a dismal outcome. Background: A 76 year old gentleman presenteded with a one month history of fatigue and exertional dyspnoea. Laboratory investigations indicated an anaemia, with a haemoglobin level of 11.0g/dl. Subsequent gastroscopy visualised a large, atypical, crater-like ulcerated lesion distal to the cardia in the proximal stomach. Provisional histology was suggestive of a poorly differentiated adenocarcinoma but subsequent cyto-morphology and immunophenotyping were consistent with melanoma, with positive S100 protein, HMB45 and Melan A. Further molecular genetic testing revealed a V600R mutation in the BRAF gene, which is the first primary gastric melanoma with this mutation to be reported in the literature. Given the rarity of the findings, an extensive secondary work-up was undertaken, which concluded the diagnosis primary gastric melanoma. Discussion: Primary gastric melanoma is a rare disease that can present similarly to other upper gastrointesinal lesions, with weight loss, abdominal pain, malena, and anaemia. Given its rarity, the pathogenesis is poorly understood. Lesions are often endoscopically atypical. Important points to note would include the absence of a primary lesion, as supported by a full skin examination and PET-CT findings, which can help to delineate the limitation to the stomach, thus helping to inform subsequent management. LEARNING POINTS• Primary gastric melanoma (PGM) is a rare clinical entity.• Work-up including skin and ophthalmic examination is important to exclude a primary cutaneous source, as this helps dictate both prognosis and subsequent management, including whether surgical resection is advisable.• Immunophenotyping and genetic testing inform management but, despite advances in therapy, the prognosis of PGM and other mucosal melanomas remains poor.
Colonic polyps may arise from BRAF inhibitor treatment of melanoma, possibly due to paradoxical activation of the mitogen-activated protein (MAP)-kinase pathway. In an alternative evidence based scenario, tubular colonic adenomas with APC gene mutations have also been identified in the context of BRAF inhibitor treatment, in the absence of mutations of MAPK genes. A minority of colorectal cancers develop by an alternative “serrated polyp pathway”. This article postulates a novel hypothesis, that the established phenotypic and molecular characteristics of serrated colonic polyps/CRC offer an intriguing insight into the pathobiology of BRAF inhibitor induced colonic polyps. Serrated polyps are characterized by a CpG island methylation phenotype, MLH1 silencing and cellular senescence. They also have BRAF mutations. The contention is that BRAF inhibitor induced polyps mimic the afore-described histology and molecular features of serrated polyps with the exception that instead of the presence of BRAF mutations they induce C-RAF homodimers and B-RAF: C-RAF heterodimers.
A population-based comparison of organ transplant recipients in whom cutaneous squamous cell develops versus those in whom basal cell carcinoma develops To the Editor: Basal cell carcinomas (BCC) occur more frequently than cutaneous squamous cell carcinomas (cSCC) with a general population ratio of 2.5:1. 1 There is wide variation in this ratio likely due to differences in demographics, latitude, and immunosuppression. The ratio is reversed following solid organ transplantation. 2 The Irish National Cancer Registry records first cSCC and BCC, providing a robust dataset to explore patient and transplant-related factors unique to the development of cSCC compared to BCC. We matched datasets from national transplant centers with Irish National Cancer Registry data from 1994 to 2014. Eligible participants were divided into 4 groups; ''cSCC only,'' ''BCC only,'' ''cSCC and BCC,'' and ''No cSCC or BCC'' and compared using multinomial logistic regression analysis (Supplemental Appendix 1).
Summary Skin cancer commonly affects people who have received a solid organ transplant (heart, lung, liver and kidney). Transplant patients can get multiple skin cancers, some of which can grow very quickly. The commonest types of skin cancer are basal cell carcinoma (BCC) and squamous cell carcinoma (SCC). Immunosuppressant medication is used to prevent rejection of the transplanted organ. This alters the body's immune system, which in turn means that transplant patients are more prone to skin cancers that can grow rapidly. Over the last 20 years, newer immunosuppressants have been introduced which are thought to lessen the risk of skin cancer. Previous studies have shown a lower risk of SCC with the newer medication, but no study to date has looked at BCC rates. This study, from Ireland, aimed to find out if the rate of skin cancer in transplant patients has reduced over the last 20 years, spanning the introduction of newer immunosuppressive medications. The National Cancer Registry of Ireland registers all skin cancers for the Republic of Ireland. The authors looked at the rate of skin cancer in people who received a solid organ transplant and compared this to the rate of skin cancer in the general population. They found that the rate of SCC and BCC in patients who received an organ transplant has significantly reduced over the last two decades. This change in risk of skin cancer coincided with changes in immunosuppressant medication, along with focused education and regular skin cancer screening for transplant recipients.
The aim of this study was to assess whether correlation existed between procollagen III N-terminal peptide levels, used in the monitoring for hepatic fibrosis in psoriasis patients prescribed methotrexate, and other screening tools (Fibrosis-4 score) and then resultant FibroScan®, with the aim of potentially altering current clinical practice. The retrospective analysis highlighted how both screening tools, if used, can prompt onward referral for FibroScan®, however the small sample size limited statistical conclusions. Nevertheless, we feel this observational study can help guide future investigation into potential changes to hepatic fibrosis monitoring for this cohort.
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