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Objectives: To investigate the approach taken by clinicians involved in the diagnosis and management of individuals with Differences of Sex Development (DSD), particularly with regard to genomic testing, and identify perceived gaps/strengths/barriers in current practice. Design and Methods: An anonymous online survey was developed, with questions exploring demographics, perceptions of genomic testing, availability of genetics services and opinions on the role and utility of genomic testing in DSD. All responses were anonymous. Clinicians involved in the diagnosis and management of individuals with DSD were recruited from relevant societies and departments across Australia and New Zealand. Results: 79 eligible clinicians commenced the survey, with 63 completing it and 16 providing a partial response. The perceived benefit of having a genetic diagnosis for DSD was almost unanimous (97%). Almost half (48%) of respondents reported barriers in genomic testing. 81% of respondents reported they order genomic tests currently. Approaches to genomic testing when faced with four different clinical scenarios varied across respondents. Clinicians perceived genomic testing to be underutilised (median 36 on sliding scale from 0 to 100). Conclusions: Despite 97% of respondents reporting benefit of a genetic diagnosis for individuals with DSD, this was not reflected throughout the survey with regard to clinical implementation. When faced with clinical scenarios, the recommendations for genomic testing from respondents was much lower, indicating the discrepancy between perception and clinical practice. Genomic testing in the context of DSD is seen as both beneficial and desired, yet there are multiple barriers impacting its integration into standard clinical care. [ABSTRACT FROM AUTHOR]

Background: Despite distinct underlying aetiologies, the clinical phenotypes and hormonal profiles of children with various differences of sex development (DSD) are often similar, which presents challenges to ascertaining an accurate diagnosis on clinical grounds alone. Associated features and important clinical outcomes can, however, vary significantly in different DSD, thus establishing an accurate molecular diagnosis may have important implications for decision-making and management planning in a given individual. Summary: The wider availability of next-generation sequencing techniques in recent years has led to recommendations for earlier integration of genetic testing in the diagnostic pathway of children with DSD. This review provides a practical overview of the clinical applications, advantages, and limitations of the more commonly available diagnostic genetic tests and outlines a suggested approach to testing. The potential clinical implications of a confirmed genetic diagnosis, subsequent management pathways for individuals with DSD, and challenges that remain to be addressed are also outlined. Key Messages: Despite significant improvements in our understanding of the complex genetic pathways that underlie DSD, an accurate diagnosis still eludes many affected individuals. Establishing a molecular diagnosis provides aetiological certainty, enabling improved information for families and individualized clinical management, including monitoring or prophylactic intervention where additional health risks exist. A stepwise approach to genomic testing is recommended to afford highest diagnostic yield from available resources. Looking forward, collaborative multicentre prospective studies will be required to assess the true impact of a genetic diagnosis on improving clinical care pathways and health, well-being and patient-reported outcomes for individuals with DSD. [ABSTRACT FROM AUTHOR]

Aim: To investigate the effectiveness of inpatient and outpatient interventions in attaining improved glycaemic control in children/adolescents with type 1 diabetes mellitus and persistently high/deteriorating HbA1c. Methods: A retrospective study at a tertiary paediatric centre. Admitted individuals who had prior attempts at ambulatory stabilisation were matched with intervention naïve controls who underwent outpatient intervention. The mean age was 14.6 years in the admitted group and 14.7 years in the ambulatory group. Mean duration of diabetes was 6.1 years in the admitted group and 7.3 years in the ambulatory group. Change in HbA1c from baseline was assessed to 12 months. Results: Mean baseline HbA1c was 11.3% (100 mmol/mol), with 11.4% in the admitted group and 11.2% in the ambulatory group. Sustained reduction in HbA1c at 12 months was seen in both groups (n = 35 in each): mean (standard deviation) 10.1% (1.5) in admitted (mean reduction in HbA1c 1.4%) and 9.7% (1.4) in ambulatory (mean reduction in HbA1c 1.5%). Proportions achieving delta HbA1c ≥2% (22 mmol/mol) at 12 months were 25 and 31% in admitted and ambulatory groups, respectively. A sustained reduction in HbA1c of ≥2% (22 mmol/mol) after 12 months was more likely in those who attained this reduction by 6 months (17/24 who achieved this at 6 months vs. 3/41 who had not). Conclusions: Both inpatient and outpatient stabilisation strategies achieved sustained improvements in HbA1c. We recommend an individualised approach to stabilisation, with review of the intervention's success at 6 months with further intensification as needed. [ABSTRACT FROM AUTHOR]

Differential diagnosis of cardiogenic shock for an adolescent girl should include possibilities of hypertensive crisis and toxic shock syndrome. Given a working diagnosis of cardiogenic shock secondary to either sepsis or cardiomyopathy, the patient was commenced on inotropes, vasopressors, antibiotics and steroids. Given the lack of prodrome for our patient, sepsis was less likely; however, septic shock in adolescent patients can present atypically and always needs to be considered. [Extracted from the article]