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Background: The pan-Canadian Maternal-Infant Research on Environmental Chemicals (MIREC) study was established to determine whether maternal environmental chemical exposures were associated with adverse pregnancy outcomes in 2001 pregnant women. Objectives: The MIREC-Child Development (CD PLUS) study followed this cohort with the goal of assessing the potential effects of prenatal exposures on anthropometry and neurodevelopment in early childhood. Population: MIREC families with children between the ages of 15 months and 5 years who had agreed to be contacted for future research (n = 1459) were invited to participate in MIREC-CD PLUS which combines data collected from an online Maternal Self-Administered Questionnaire with biomonitoring and neurodevelopment data collected from two in-person visits. Preliminary Results: Between April 2013 and March 2015, 803 children participated in the Biomonitoring visit where we collected anthropometric measures, blood, and urine from the children. The Behavioural Assessment System for Children-2, Behaviour Rating Inventory of Executive Function, MacArthur-Bates Communicative Development Inventories and the Communication subscale of the Adaptive Behaviour Scale from the Bayley Scales of Infant and Toddler Development-III are available on close to 900 children. There were 610 singleton children who completed in-person visits for neurodevelopment assessments including the Social Responsiveness Scale, Wechsler Preschool Primary Scale of Intelligence-III and NEuroPSYchological assessments (NEPSY). Currently, we are following the cohort into early adolescence to measure the impact of early life exposures on endocrine and metabolic function (MIREC-ENDO). Conclusions: Data collection for the MIREC-CD PLUS study is complete and analysis of the data continues. We are now extending the follow-up of the cohort into adolescence to measure the impact of early life exposures on endocrine and metabolic function (MIREC-ENDO). MIREC-CD PLUS is limited by loss to follow-up and the fact that mothers are predominately of higher socioeconomic status and 'White' ethnicity, which limits our generalizability. However, the depth of biomonitoring and clinical measures in MIREC provides a platform to examine associations of prenatal, infancy and childhood exposures with child growth and development. [ABSTRACT FROM AUTHOR]

Objective. To determine the impact of the t:slim X2 insulin pump with Control-IQ technology on the quality of life and glycemic control in youth with type 1 diabetes (T1D) and their parents in a real-world setting. Research Design and Methods. We conducted a single-center, prospective study on pediatric patients (6–18 years old) with T1D using a Tandem t:slim X2 pump and initiating Control-IQ technology as part of routine care. Youth (≥8 years) and parents completed validated patient-reported outcome measures (PROMs) at baseline and the end of the study (16 weeks). Glycemic control measures were recorded at baseline and every 4 weeks until the end of the study. Results. Fifty-nine youth participated; the median (IQR) age was 13.8 (11.1, 15.7) years, and T1D duration was 6.3 (3.1, 8.4) years. INSPIRE scores (evaluating expectations (baseline) and impact (post) of Control-IQ technology) were favorable, unchanged at the end of the study for youth, and lower for parents (p = 0.04). Other PROM scores improved by the end of the study with mean (95% CI) differences for youth and parents, respectively, as follows: Diabetes Impact and Device Satisfaction (DIDS) Scale Diabetes Impact −1.08 (−1.51, −0.64) (p < 0.001) and −1.41 (−1.96, −0.87) (p < 0.001); DIDS Scale Device Satisfaction +0.43 (0.11, 0.74) (p = 0.01) and +0.58 (0.31, 0.85) (p < 0.001); Hypoglycemia Fear Survey −4.41 (−7.65, −1.17) (p = 0.01) and −7.64 (−11.66, −3.62) (p < 0.001); and WHO-5 Well-Being Index +5.10 (−1.40, 11.6) (p = 0.12) and +9.60 (3.40, 15.8) (p = 0.003). The mean time in range increased from 52.6% at baseline to 62.6% (p < 0.001) at 4 weeks, sustained to 16 weeks. Conclusions. Initiation of Control-IQ technology in a real-world setting significantly reduced the impact of diabetes on daily life while simultaneously improving glycemic control. Trial Registration. This trial is registered with ClinicalTrials.gov Identifier NCT04838561 (https://www.clinicaltrials.gov/ct2/show/NCT04838561?term=Control-IQ&cond=Type+1+Diabetes&cntry=CA&draw=2&rank=1). [ABSTRACT FROM AUTHOR]

Pediatric solid tumors have a range of clinical presentations, including those driven by the ectopic production of hormones secreted by some malignancies. Functional tumors lead to a variety of presentations, including Cushing syndrome, growth acceleration, abnormal virilization or feminization, and hypertension with electrolyte abnormalities. Precocious puberty, the onset of secondary sexual characteristics before age 8 in girls or 9 in boys, may be a warning sign of occult malignancy. Early referral is critical to optimize survival and limit disease- and treatment-related morbidities. Diagnostic workup and treatment should be guided by an interdisciplinary specialist team. Some tumors are associated with inherited cancer predisposition syndromes, which may have implications for surveillance and screening of family members. We describe a series of patients with rare functional tumors who presented with peripheral precocity to our tertiary referral centre at BC Children's Hospital to highlight key concepts for physicians: recognize, refer early, and review recommendations for genetic screening. [ABSTRACT FROM AUTHOR]

Objectives Evaluate the current state of postgraduate medical education on gender diversity in Canadian paediatric residency programs, exploring both resident and program director perceptions. Background Primary care providers are seeing more gender diverse children and youth in their offices, along with an exponential growth in referrals to Canadian specialty clinics and potential for significant mental health comorbidities. Gender-affirming support and management have been shown to improve overall outcomes. There is no mandatory curriculum on gender diversity for Canadian paediatric residency programs. Methods Cross-sectional online surveys in English and French distributed to program directors (PDs) and paediatric residents in the 17 Canadian paediatric residency programs. Data were analyzed by descriptive statistics with 95% confidence intervals. Results Response rate was 88.2% from PDs and 24.5% from paediatric residents. Among PDs, 14.3% (95% confidence interval [CI]: 6.3, 22.3) reported a formal curriculum for gender diversity teaching. Sixty-four per cent (53.3, 75.2) of PDs estimated their residents received ≤ 2 hours teaching on gender diversity. Residents reported comfort levels ≤ 50% on specific topics. Among residents, 73.8% (67.9, 79.6) reported that mandatory time in a gender diversity clinic would be the most effective teaching tool while PDs favoured an online module (66.7% [58.2, 75.1]). Barriers to more teaching included lack of time in a busy curriculum. Over 90% of resident indicated that more teaching on gender diversity is required. Conclusions Significant variability in education on gender diversity is seen amongst Canadian paediatric residency programs. Discussion regarding a formal paediatric curriculum on gender diversity is needed. [ABSTRACT FROM AUTHOR]

Objectives: Biallelic pathogenic variants in CYPA24A1 and SLC34A1 are causes of idiopathic infantile hypercalcemia. Pathogenic variants in both may also give rise to hypercalciuria with nephrocalcinosis or nephrolithiasis without previous hypercalcemia (renal group). Our objective was to examine the frequency of CYP24A1 or SLC34A1 variants in children with early hypercalcemia or late-onset hypercalciuria. Method: Forty-one children from 7 centers across Canada were recruited. Local investigations were undertaken. The serum was evaluated by liquid chromatography tandem-mass spectrometry for the ratio of 25-hydroxyvitamin D3 to 24,25-dihydroxyvitamin D3, (25-OH-D3:24,25-(OH)2D3), an elevation pathognomonic for the loss of function of the CYP24A1 enzyme. Mutational analyses were undertaken. Family cascade screening was performed if pathogenic variants were detected in probands. Results: Twenty-nine children had early-onset hypercalcemia; none had elevated 25-OH-D3:24,25-(OH)2D3 or variants. Interestingly, 2 of 12 in the renal group had elevated 25-OH-D3:24,25-(OH)2D3 and presented as preadolescents. In case 1, cascade testing revealed a sibling and parent with asymptomatic pathogenic variants in CYP24A1. Four CYP24A1 pathogenic variants were identified in these 2 probands: 3 have been described in European populations, and 1 is a rare variant in exon 7 (c931delC) that is likely pathogenic. No SLC34A1 pathogenic variants were detected. Conclusion: In Canada, pathogenic variants in CYP24A1 appear to manifest with late-onset hypercalciuria and its sequelae. The 25-OH-D3:24,25-(OH)2D3 ratio is an excellent tool for screening for biallelic pathogenic variants in CYP24A1. We confirm that cascade testing is important for these variants. [ABSTRACT FROM AUTHOR]

Background/Aims: To evaluate factors contributing to the decision to initiate treatment with growth hormone (GH) in patients with Turner syndrome (TS). Methods: Data collected included ethnicity, parents’ education and work status, mid-parental height, age at diagnosis, karyotype, pubertal development, clinical severity score, bone age, height SDS and ages when GH was proposed and initiated. Results: GH was proposed to 59 of 72 patients >6 years (82%), and of these 46 (78%) accepted. Reasons for not proposing GH included late diagnosis, good growth and loss to follow-up. GH-treated and untreated girls differed by age at diagnosis (mean ± SD: 6.8 ± 4.7 vs. 4.3 ± 5.1 years; p = 0.04), TS-specific height SDS (0.08 ± 0.81 vs. 066 ± 0.87; p = 0.01) and spontaneous puberty (5/46 vs. 4/26, p = 0.024). Mean age at which it was suggested to begin GH was 9.2 ± 2.9 years. Reasons for parental refusal of GH were not related to reimbursement issues since GH treatment is covered fully by our insurance plan but included concern with other medical issues, mental health problems and fear of injections or unknown side effects. Conclusion: GH treatment was not acceptable to all patients with TS. Copyright © 2008 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

The article presents a case study of a five year old boy with a one-year history of papules over the cheeks, glabella and ears. Partial initial laboratory results demonstrated a normal complete blood count, electrolyte levels, and normal tests of liver and renal function. It states that comedones are important to recognize because their presence in the prepubertal age group is never normal and is a sign of virilization necessitating further investigation.

Gender-affirming hormone therapy is increasingly available to support healthy development of transgender (trans) youth, but ethical concerns have been raised regarding fertility-related implications. In this article, I present data from an exploratory qualitative study of the decision-making experiences of trans youth, parents of trans youth, and healthcare providers serving trans youth related to fertility and family creation. I discuss how cisnormative and bionormative biases can impact care and contribute to ethically problematic narratives of regret. Finally, I offer recommendations to support ethically sound, gender-affirmative fertility and family creation counseling with transgender youth. [ABSTRACT FROM AUTHOR]

An author index for the 2007 issue of "Hormone Research" is presented.