Bone and muscle differences in children and adolescents with type 1 diabetes: The mediating role of physical activity.

Children with type 1 diabetes (T1D) experience an increased risk of fracture, which may be related to altered bone development. We aimed to assess differences in bone, muscle and physical activity (PA), and explore if better muscle and PA measures would mitigate bone differences between children and adolescents with T1D and typically developing peers (TDP). We matched 56 children and adolescents with T1D (mean age 11.

Type 1 diabetes management responsibilities between adolescents with T1D and their parents: An integrative review.

Purpose: Diabetes self-management for adolescents with type 1 diabetes (T1D) is a complex and multifaceted process that requires careful consideration of a supportive or shared approach to care. The purpose of this review was to synthesize the qualitative and quantitative evidence regarding the nature of adolescent-parent interactions and relationships in the context of T1D management. Of particular interest was the role of interdependence in this relationship.

Managing the unmanageable through interdependence in adolescents living with type 1 diabetes and their parents: A constructivist grounded theory.

Background: Management of T1D is complex and requires continuous care and monitoring that place many demands on adolescents with T1D and their parents. The purpose of this study was to explore the nature of interdependence with T1D management with adolescents and their parents.

Methods: Using a constructivist grounded theory methodology, 32 open-ended interviews were conducted, transcribed, and analyzed from 11 adolescents aged 10-18 years with T1D and eight parents.

CYP24A1 and SLC34A1 Pathogenic Variants Are Uncommon in a Canadian Cohort of Children with Hypercalcemia or Hypercalciuria.

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.

Perioperative care of congenital adrenal hyperplasia - a disparity of physician practices in Canada.

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most common cause of primary adrenal insufficiency in children. Current guidelines recommend the use of perioperative stress dose (supraphysiologic) glucocorticoids for children with CAH undergoing anesthesia, although a perceived difference in practice patterns among Canadian pediatric subspecialists prompted an assessment of perioperative glucocorticoid administration.

Methods: We performed a cross-sectional survey of Canadian Pediatric Anesthesia Society (CPAS) and Canadian Pediatric Endocrine Group (CPEG) members via membership email lists to assess reported practice patterns to select clinical scenarios.

Insulin-mediated pseudoacromegaly: a report of two pediatric patients.

Background: Insulin-mediated pseudoacromegaly is a rarely described pediatric phenotype. We present two patients displaying excessive growth associated with marked acanthosis nigricans, hyperinsulinemia and metabolic dysregulation.

Case Presentation: Both patients, of First Nations descent, presented with excessive growth - patient one at 3.

Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.

Congenital adrenal hyperplasia (CAH), resulting from mutations in , a gene encoding 11β-hydroxylase, represents a rare autosomal recessive Mendelian disorder of aberrant sex steroid production. Unlike CAH caused by 21-hydroxylase deficiency, the disease is far more common in the Middle East and North Africa, where consanguinity is common often resulting in identical mutations. Clinically, affected female newborns are profoundly virilized (Prader score of 4/5), and both genders display significantly advanced bone ages and are oftentimes hypertensive.

Anterior Hypopituitarism and Treatment Response in Hunter Syndrome: A Comparison of Two Patients.

Hypopituitarism is a clinically important diagnosis and has not previously been reported in Hunter syndrome. We contrast two cases with anatomic pituitary anomalies: one with anterior panhypopituitarism and the other with intact pituitary function. Patient 1, a 10-year-old boy with Hunter syndrome, was evaluated for poor growth and an ectopic posterior pituitary gland.

Impact of Growth Hormone on Adult Bone Quality in Turner Syndrome: A HR-pQCT Study.

Women with Turner syndrome (TS) are known to be at risk of osteoporosis. While childhood growth hormone (GH) treatment is common in TS, the impact of this therapy on bone health has been poorly understood. The objective of this study was to determine the influence of childhood GH treatment on adult bone quality in women with TS.

Height augmentation in 11β-hydroxylase deficiency congenital adrenal hyperplasia.

Context: 11β-hydroxylase deficiency is the second most common form of congenital adrenal hyperplasia. Untreated, this enzyme deficiency leads to virilization, hypertension, and significant height impairment.

Patient: We describe a patient from abroad who first presented to us at age 7 years for follow-up of ambiguous genitalia.

Current concepts surrounding bone health and osteoporosis in Turner syndrome.

Although Turner syndrome is the most common chromosomal disorder in women, a great deal remains to be understood in terms of optimal patient care, particularly as it relates to bone health. These women are known to be at risk for osteoporosis and fracture later in life as a result of a multitude of risk factors. While estrogen replacement and childhood growth hormone treatment are now considered standard of care, little is known of the role of further interventions to prevent and treat osteoporosis in these women.