ContextEndocrine disorders are common in individuals with mitochondrial disease. To develop evidence-based screening practices in this high-risk population, updated age-stratified estimates of the prevalence of endocrine conditions are needed.ObjectiveTo measure the point prevalence of selected endocrine disorders in individuals with mitochondrial disease.Design, Setting, and PatientsThe North American Mitochondrial Disease Consortium Patient Registry is a large, prospective, physician-curated cohort study of individuals with mitochondrial disease. Participants (n = 404) are of any age, with a diagnosis of primary mitochondrial disease confirmed by molecular genetic testing.Main Outcome MeasuresAge-specific prevalence of diabetes mellitus (DM), abnormal growth and sexual maturation (AGSM), hypoparathyroidism, and hypothyroidism.ResultsThe majority of our sample was pediatric (<18 years; 60.1%), female (56.9%), and white (85.9%). DM affected 2% of participants aged <18 years [95% confidence interval (CI): 0.4% to 5.7%] and 24.4% of adult participants (95% CI: 18.6% to 30.9%). DM prevalence was highest in individuals with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome (MELAS; 31.9%, of whom 86.2% had the m.3243A>G mutation). DM occurred more often with mitochondrial DNA defects (point mutations and/or deletions) than with nuclear DNA mutations (23.3% vs 3.7%, respectively; P < 0.001). Other prevalence estimates were 44.1% (95% CI: 38.8% to 49.6%) for AGSM; 0.3% (95% CI: 0% to 1.6%) for hypoparathyroidism; and 6.3% (95% CI: 4% to 9.3%) for hypothyroidism.ConclusionDM and AGSM are highly prevalent in primary mitochondrial disease. Certain clinical mitochondrial syndromes (MELAS and Kearns-Sayre/Pearson syndrome spectrum disorders) demonstrated a higher burden of endocrinopathies. Clinical screening practices should reflect the substantial prevalence of endocrine disorders in mitochondrial disease.

BackgroundRickets can occur due to Vitamin D deficiency or defects in its metabolism. Three rare genetic types of rickets with different alterations of genes have been reported, including: Vitamin D dependent rickets type 1, Vitamin D dependent rickets type 2 or also known as Vitamin D resistant rickets and 25 hydroxylase deficiency rickets. Vitamin D dependent rickets type 1 is inherited in an autosomal recessive pattern, and is caused by mutations in the CYP27B1 gene encoding the 1α-hydroxylase enzyme. We report here a new mutation in CYP27B1, which lead to Vitamin D dependent rickets type 1.Case presentationWe report on a 13-month-old Arabic Saudi girl with Vitamin D dependent rickets type 1 presented with multiple fractures and classic features of rickets. A whole exome sequencing identified a novel pathogenic missense mutation (CYP27B1:Homozygous c.1510C > T(p.Q504X)) which results in a protein truncating alteration. Both parents are heterozygous carriers of the mutation. Based on data search in Human Gene Mutation Database, 63 CYP27B1 alterations were reported: only 28.6% are protein truncating (5 nonsense, 13 frameshift insertions/deletions, 0 gross deletions), while 61.9% are non-truncating (38 missense, 1 small in-frame insertions/deletion), and 9.5% are possible protein-truncating (5 splice, 1 regulatory).ConclusionThe deleterious effect of this alteration, which was the only mutation detected in the CYP27B1 common gene of Vitamin D dependent rickets type 1 in the proband, and its autosomal recessive inheritance fashion, both support a pathogenic nature of this mutation as the cause of Vitamin D dependent rickets type 1.

Objective This study aimed to describe parents’ perceptions of the factors that facilitate or are barriers to their involvement in children’s type 1 diabetes (T1D) management among African American and Latino parents. Methods African American and Latino parents (N = 28) of 5- to 9-year-old children with T1D completed audio-recorded, semi-structured interviews that were transcribed and analyzed using thematic analysis. Themes were identified that aligned with the theoretically-derived Capability–Opportunity–Motivation–Behavior (COM-B) framework. Results Parents described Capability-based facilitators of parent involvement, including positive stress management, religious/spiritual coping, organizational/planning skills, and diabetes knowledge. Capability-based barriers included child and parent distress. Interpersonal relationships, degree of flexibility in work environments, and access to diabetes technologies were both Opportunity-based facilitators and barriers; and Opportunity-based barriers consisted of food insecurity/low financial resources. Parents’ desire for their child to have a “normal” life was described as both a Motivation-based facilitator and barrier. Conclusions African American and Latino families described helpful and unhelpful factors that spanned all aspects of the COM-B model. Reinforcing or targeting families’ unique psychological, interpersonal, and environmental strengths and challenges in multilevel interventions has potential to maximize parental involvement in children’s diabetes management.