Diabetes Mellitus Associated with Maternally Inherited Diabetes and Deafness (MIDD): From Pathogenic Variant to Phenotype.

Maternally inherited diabetes and deafness (MIDD) is a monogenic mitochondrial disorder caused by a pathogenic variant in the MT-TL1 gene encoding for a leucine transfer RNA. We propose a new hypothesis that explains how the MT-TL1 variant causes impaired glucose tolerance and diabetes in MIDD. We suggest that diabetes in MIDD primarily depends on a variable combination of insulin resistance and impaired beta cell function that seems more likely to occur in the presence of high skeletal muscle heteroplasmy and moderate beta cell heteroplasmy for m.

Experiences and Challenges with Congenital Hypothyroidism Newborn Screening in Indonesia: A National Cross-Sectional Survey.

The expansion of newborn screening (NBS) for congenital hypothyroidism (CH) is essential to reducing the number of preventable intellectual disabilities in children. Because of logistical issues, including geographic extremes, distinct cultures, and 4.8 million births annually, Indonesia has struggled to achieve universal NBS coverage.

The use of CGM to identify hypoglycemia and glycemic patterns in congenital hyperinsulinism.

Objectives: Unrecognized hypoglycemia, especially in the neonatal population, is a significant cause of morbidity and poor neurologic outcomes. Children with congenital hyperinsulinism (HI) are at risk of hypoglycemia and point of care testing (POCT) is the standard of care. Studies have shown that continuous glucose monitoring (CGM) improves glycemic control and reduces the frequency of hypoglycemia among children with type 1 diabetes.

Bringing the Pediatric Endocrine Spanish Speaking Community Together: First Virtual Pediatric Endocrine Meeting in Low- and Middle-Income Countries in Central and South America.

Background: Pediatric endocrinology is a specialty that is struggling worldwide to maintain adequately trained professionals. Pediatric endocrine care in Central America and Caribbean countries is often performed by pediatricians or adult endocrinologists due to the limited number of pediatric endocrinologists. These health care providers are seldom members of endocrine societies and frequently lack formal training in the field.

Use of dexamethasone in acute rhabdomyolysis in deficiency.

Introduction: LPIN1 deficiency is an autosomal recessive form of early childhood recurrent severe rhabdomyolysis. Although not completely lucid yet, LPIN1 has been shown to modulate endosomal-related pro-inflammatory responses via peroxisome proliferator-activated receptor α (PPARα) and PPARγ coactivator 1α (PGC-1α). Treatment with anti-inflammatory agents such as dexamethasone has been proposed to improve the outcome.

Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial.

Context: Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by endocrine and neuropsychiatric problems including hyperphagia, anxiousness, and distress. Intranasal carbetocin, an oxytocin analog, was investigated as a selective oxytocin replacement therapy.

Objective: To evaluate safety and efficacy of intranasal carbetocin in PWS.

Lifespan healthcare transitions among individuals with intersex traits in Canada: a mixed-methods and qualitative study.

Objectives: To: (1) complete an integrative literature review of transition studies that focus on individuals with intersex traits; (2) conduct an environmental scan of the current resources (practice guidelines, policies and procedures) used by healthcare providers working with Canadians with intersex traits; (3) investigate the experiences of Canadians with intersex traits in their healthcare transitions across the lifespan and (4) assess the understanding of healthcare providers about these transitions.

Design: A qualitative prospective community participation study was conducted. It used mixed methods including an environmental scan and semistructured engagement sessions.

Access to fludrocortisone and to hydrocortisone in children with congenital adrenal hyperplasia in the WHO Eastern Mediterranean Region: it takes a village….

Congenital adrenal hyperplasia (CAH), if untreated, carries high morbidity and mortality. A higher incidence of CAH is expected in countries where consanguinity is common, such as in the countries of the WHO Eastern Mediterranean Region (EMRO). CAH is managed through lifelong treatment with fludrocortisone and hydrocortisone.

Individual and family characteristics associated with health indicators at entry into multidisciplinary pediatric weight management: findings from the CANadian Pediatric Weight management Registry (CANPWR).

Objectives: (1) To explore individual and family characteristics related to anthropometric and cardiometabolic health indicators and (2) examine whether characteristics that correlate with cardiometabolic health indicators differ across severity of obesity at time of entry to Canadian pediatric weight management clinics.

Methods: We conducted a cross-sectional analysis of 2-17 year olds with overweight or obesity who registered in the CANadian Pediatric Weight Management Registry (CANPWR) between May 2013 and October 2017 prior to their first clinic visit. Individual modifiable health behaviors included dietary intake, physical activity, screen time, and sleep.

Variability in How Canadian Pediatric Weight Management Clinics Deliver Care: Evidence from the CANadian Pediatric Weight Management Registry.

Clinical practice guidelines for pediatric weight management highlight the importance of family-based behavioral strategies to enhance health behaviors. Little is known, however, of how clinics implement these programs. The study objectives were to (1) describe how Canadian pediatric weight management clinics deliver care and (2) evaluate change in services over time.

"Age Related Differences in the Biology of Chronic Graft-Versus-Host Disease After Hematopoietic Stem Cell Transplantation".

It is established that pediatric hematopoietic stem cell transplant (HSCT) recipients have a lower rate of chronic graft-versus-host disease (cGvHD) compared to adults. Our group has previously published immune profiles changes associated with cGvHD of clinically well-defined adult and pediatric HSCT cohorts. Since all analyses were performed by the same research group and analyzed using identical methodology, we first compared our previous immune profile analyses between adults and children.

Multilingual Global E-Learning Pediatric Endocrinology and Diabetes Curriculum for Front Line Health Care Providers in Resource-Limited Countries: Development Study.

Background: Electronic learning (e-learning) is a widely accessible, low-cost option for learning remotely in various settings that allows interaction between an instructor and a learner.

Objective: We describe the development of a free and globally accessible multilingual e-learning module that provides education material on topics in pediatric endocrinology and diabetes and that is intended for first-line physicians and health workers but also trainees or medical specialists in resource-limited countries.

Methods: As complements to concise chapters, interactive vignettes were constructed, exemplifying clinical issues and pitfalls, with specific attention to the 3 levels of medical health care in resource-limited countries.

Clitoral sizes and anogenital distances in term newborns in Nigeria.

Background: Previous studies suggest significant ethnic and racial differences in clitoral sizes and anogenital distances in the newborn. This study aimed to document normative data on clitoral sizes and anogenital distances of apparently normal term female infants in Sagamu.

Methods: The study was a multi-center, cross-sectional descriptive research carried out among 317 female term infants within the first 72 h of life.

Experience With Store-and-Forward Consultations in Providing Access to Pediatric Endocrine Consultations in Low- and Middle-Income Countries.

Pediatric specialists are often unavailable in low- and middle-income countries. As part of multiple professional associations' efforts to improve access to endocrine expertise globally, a pediatric endocrine teleconsultation network was established on a store-and-forward teleconsultation platform to facilitate focused, language-appropriate advice that can be kept for future reference while bypassing real-time video-conferencing, and obviating the need for a scheduled appointment. User information was recorded, and quality statistics on network performance and qualitative evaluation by referring physicians were analyzed.

Adrenal function following acute discontinuation of glucocorticoids in children with acute lymphocytic leukemia: A prospective study.

Children with acute lymphocytic leukemia (ALL) are enrolled in advanced treatment protocols involving high doses of glucocorticoids (GCs). Current protocols do not advocate tapering of GCs doses postinduction phase. Prolonged administration of supra-physiologic doses of GCs can induce transient suppression of the hypothalamic pituitary adrenal axis (HPA).

Normative data on penile and anogenital measurements of term male infants in Sagamu, Nigeria.

Aim: To document normative data on penile size and anogenital distances of apparently normal term male infants in Sagamu, Nigeria.

Methods: This cross-sectional study was carried out on 303 term male infants within the first 72 hours of life. Stretched penile length, penile width and three measures of anogenital distances were recorded: anogenital distance-1, anogenital distance-2 and anoscrotal distance.

Incidence of disorders of sexual development in neonates in Ghana: prospective study.

Objective: The incidence of disorders of sexual development (DSD) is unknown in sub-Saharan Africa. We describe the characteristics and incidence of DSD in a cohort of infants born in Ghana.

Design: Trained research assistants performed systematic genital examination at birth.

Continued attendance for paediatric weight management: A multicentre, qualitative study of parents' reasons and facilitators.

Although prolonged engagement in paediatric weight management (PWM) is associated with positive treatment outcomes, little is currently known about enablers of long-term programme attendance. The purpose of our study was to explore families' reasons for and facilitators of their continued attendance at health services for PWM. Semi-structured, individual interviews were conducted with parents of children (10-17 year old; body mass index ≥85th percentile) who completed the active phase of treatment in one of four Canadian multidisciplinary clinics for PWM.

Pathways to eating in children and adolescents with obesity.

Background: Paediatric obesity management remains generalised to dietary and exercise modifications with an underappreciation for the contributions of eating behaviours and appetitive traits in the development of obesity.

Objectives: To determine whether treatment-seeking children and adolescents with obesity cluster into phenotypes based on known eating behaviours and appetitive traits ("eating correlates") and how socio-demographic and clinical characteristics associate with different phenotypes.

Methods: A cross-sectional, multi-centre questionnaire was administered between November 2015 and March 2017 examining correlates of eating in children and adolescents attending weight-management programmes in Canada.