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This was a retrospective review of a tertiary Paediatric and Adolescent Gynaecology (PAG) referral service catering to the South Yorkshire population in the UK. All patients referred to the PAG clinic from May 2014 to May 2018 were included. Treatments offered in clinic (surgical and pharmacological) were assessed and referral made to alternative services were analysed. Reasons for referral and the number of patients requiring intervention, pharmacological or surgical including a breakdown of the treatments offered were analysed. Forty-four percent (44%) of referrals were for menstrual disorders, with pain (15%) and vulvar problems (13%) being the next common causes. Only 5% of patients needed specialist surgery. Patients attending a PAG clinic are predominantly managed with pharmacological intervention and this could be provided in primary care with referrals limited to complex patients or those who require surgery. By understanding the case load for the PAG clinics, commissioners can better streamline the services. What is already known on this subject? PAG services are relatively new and there are no clear pathways of how these should be configured. A better understanding of the case load in PAG clinics will allow configuration of services with better stratification of care to primary secondary and tertiary care providers. What do the results of this study add? The results of this study identify that the vast majority of patients attending PAG services do so with menstrual problems and relatively minor problems that can be addressed by primary care physicians with adequate training. What are the implications of these findings for clinical practice and/or further research? For more rare congenital anomalies, patients are best managed in a specialised centre that can offer a range of different treatments. [ABSTRACT FROM AUTHOR]

Purpose: The study aimed to systematically ascertain male sex chromosome abnormalities, 47,XXY (Klinefelter syndrome [KS]) and 47,XYY, and characterize their risks of adverse health outcomes., Methods: We analyzed genotyping array or exome sequence data in 207,067 men of European ancestry aged 40 to 70 years from the UK Biobank and related these to extensive routine health record data., Results: Only 49 of 213 (23%) of men whom we identified with KS and only 1 of 143 (0.7%) with 47,XYY had a diagnosis of abnormal karyotype on their medical records or self-report. We observed expected associations for KS with reproductive dysfunction (late puberty: risk ratio [RR] = 2.7; childlessness: RR = 4.2; testosterone concentration: RR = -3.8 nmol/L, all P < 2 × 10 -8 ), whereas XYY men appeared to have normal reproductive function. Despite this difference, we identified several higher disease risks shared across both KS and 47,XYY, including type 2 diabetes (RR = 3.0 and 2.6, respectively), venous thrombosis (RR = 6.4 and 7.4, respectively), pulmonary embolism (RR = 3.3 and 3.7, respectively), and chronic obstructive pulmonary disease (RR = 4.4 and 4.6, respectively) (all P < 7 × 10 -6 )., Conclusion: KS and 47,XYY were mostly unrecognized but conferred substantially higher risks for metabolic, vascular, and respiratory diseases, which were only partially explained by higher levels of body mass index, deprivation, and smoking., Competing Interests: Conflict of Interest The authors declare no conflicts of interest., (Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.)