The level of connection between health care professionals and people who experience a condition that affects sex development is variable. These people and associated support groups need to be included in discussions about research and healthcare delivery. The aim of this study was to understand the experiences of individuals with disorders of sexual development (DSD), their parents, health care providers, and support groups. Workshop planning, preparation, delivery, and evaluation involved members of working groups from the COST Action DSDnet. A coordinator, in collaboration with a support group representative, led the workshop design and delivery. Our successful, facilitated workshop involved 33 attendees from 8 EU countries. The workshop provided individuals with DSD, parents, advisory groups, and professionals with an opportunity for shared learning. Outputs focused on 7 key areas, including diagnosis, childhood, and transition to adult care as well as fostering discussion around registries, future research topics, consent processes, and information needs across the life course. The importance of trustworthy and knowledgeable providers, time to understand such rare conditions, and the place support groups have in a life course approach were valuable learning points for all attendees. In conclusion, workshops can be designed and delivered in meaningful ways for all those involved in care of individuals with rare conditions.

Objectives: To determine trends in clinical practice for individuals with DSD requiring gonadectomy. Design: Retrospective cohort study. Methods: Information regarding age at gonadectomy according to diagnosis; reported sex; time of presentation to specialist center; and location of center from cases reported to the International DSD Registry and who were over 16 years old in January 2019. Results: Data regarding gonadectomy were available in 668 (88%) individuals from 44 centers. Of these, 248 (37%) (median age (range) 24 (17, 75) years) were male and 420 (63%) (median age (range) 26 (16, 86) years) were female. Gonadectomy was reported from 36 centers in 351/668 cases (53%). Females were more likely to undergo gonadectomy (n=311, p<0.0001). The indication for gonadectomy was reported in 268 (76%). The most common indication was mitigation of tumour risk in 172 (64%). Variations in the practice of gonadectomy were observed; of the 351 cases from 36 centers, 17 (5%) at 9 centers had undergone gonadectomy before their first presentation to the specialist center. Median age at gonadectomy of cases from high income countries and low/middle income countries (LMIC) was 13.0 yrs (0.1, 68) years and 16.5 yrs (1, 28), respectively (p<0.0001) with the likelihood of long-term retention of gonads being higher in LMIC countries. Conclusions: The likelihood of gonadectomy depends on the underlying diagnosis, sex of rearing and the geographical setting. Clinical benchmarks, which can be studied across all forms of DSD will allow a better understanding of the variation in the practice of gonadectomy.

INTRODUCTION: In the last 5 years, the use of automatic insulin delivery systems has been increasing among patients with type 1 diabetes mellitus (T1DM). It has been shown that they improve metabolic control, decrease the time spent in hypoglycemia and the number of episodes of nocturnal hypoglycemia; increase the time spent in target and are feasible and safe. AIM: Our aim is to evaluate the glycemic control in children/adolescents using do-it-yourself (DIY) regulatory unapproved insulin-delivery loops vs sensor-augmented pump therapy (SAP). MATERIALS AND METHODS: A total of 43 families with child/children with T1DM on pump treatment and continuous use of continuous glucose monitoring (CGM) were invited to participate in the study; 31 (72.1%) of the families accepted. The children were followed for 6 months, a total of 196 patient months. RESULTS:The study group consisted of 31 children with T1DM, 24 (77.4%) of them were on SAP, and 7 (22.6%) used DIY loops. No differences were observed in regard to age, duration of diabetes, and daily insulin dose between groups. Patients on DIY loops spent significantly more time in range (83.0 vs 68.8%, p=0.02), less time in hyperglycemia above 14 mmol/L (2.1 vs 8.6%, p=0.02). They had significantly better HbA1c at the 6th month (6.5 vs 7.2%, p=0.006) vs SAP patients for the follow-up period. No severe hypoglycemia and diabetic ketoacidosis (DKA) occurred. There were no gender differences between and within both groups. CONCLUSION: DIY unregistered loop systems showed promising results for better metabolic control at least in terms of mean blood glucose levels (BGLs) and without increasing the risk of severe hypoglycemia

It is unclear whether testosterone replacement therapy (TRT) in adolescent boys, affected by a range of endocrine diseases that may be associated with hypogonadism, is particularly common. The aim of this study was to assess the contemporary practice of TRT in boys included in the I-DSD Registry. All participating centres in the I-DSD Registry that had boys between 10 and 18 years of age and with a condition that could be associated with hypogonadism were invited to provide further information in 2019. Information on 162 boys was collected from 15 centres that had a median (range) number of 6 boys per centre (1.35). Of these, 30 (19%) from 9 centres were receiving TRT and the median (range) age at the start was 12.6 years (10.8–16.2), with 6 boys (20%) starting at &#x3c;12 years. Median (range) age of boys not on TRT was 11.7 years (10.7–17.7), and 69 out of 132 (52%) were &#x3c;12 years. TRT had been initiated in 20 of 71 (28%) boys with a disorder of gonadal development, 3 of 14 (21%) with a disorder of androgen synthesis, and all 7 (100%) boys with hypogonadotropic hypogonadism. The remainder who did not have TRT included 15 boys with partial androgen insensitivity, 52 with non-specific XY DSD, and 3 with persistent Müllerian duct syndrome. Before starting TRT, liver function and blood count were checked in 19 (68%) and 18 boys (64%), respectively, a bone age assessment was performed in 23 (82%) and bone mineral density assessment in 12 boys (43%). This snapshot of contemporary practice reveals that TRT in boys included in the I-DSD Registry is not very common, whilst the variation in starting and monitoring therapy is quite marked. Standardisation of practice may lead to more effective assessment of treatment outcomes.