Prevalence of genetic causes of obesity in clinical practice.

Background: While obesity is common in the United States, monogenic obesity is rare, accounting for approximately 5% of individuals with obesity. New targeted therapies for genetic forms of obesity are available but there is limited guidance on who requires testing. The aims of this study were to evaluate the prevalence of potentially clinically significant variants among individuals in Pediatric Endocrinology or Medical Weight Center clinics at a single center and to identify clinical characteristics that may make genetic obesity more likely. Methods: Children and adults who had a genetic test for obesity, Uncovering Rare Obesity Gene panel, ordered during routine clinic visits from December 2019 to March 2021 were identified. Results: Of the 139 patients with testing ordered, 117 had available results and clinical data. Over 40% (52/117, 44%) had at least one positive result (variant) with a variant that is considered pathogenic, likely pathogenic, or a variant of uncertain significance. No association was detected between age, sex, race, and body mass index (BMI) or BMI z-score with a variant. Twenty-six individuals (22%) had one or more variants in genes associated with Bardet Biedl Syndrome, and 8 (6.8%) of them had pathogenic variants, higher than expected. Conclusion: Overall, clinical suspicion for genetic obesity is important in determining who requires genetic testing but no clinical factors were found to predict results. While obesity is multifactorial, novel medications for genetic forms of obesity indicate the need for evidence-based guidelines for who requires genetic testing for obesity.

Sleep Habits of Early School-Aged Children with Type 1 Diabetes and Their Parents: Family Characteristics and Diabetes Management.

STUDY OBJECTIVES: School-aged children with type 1 diabetes (T1D) and their parents are at risk for sleep disturbances, yet few studies have used objective measures to assess sleep characteristics in young children with T1D. METHODS: Forty children (ages 5-9) with T1D and their parents wore actigraph watches and completed sleep diaries for 7 nights. Parents also completed questionnaires about demographic information, diabetes distress, fear of hypoglycemia, and family routines. Children's clinical data (HbA1c and blood glucose data) were extracted from the medical record. RESULTS: Most of the children and their parents obtained insufficient sleep. Based on actigraphy data, children slept an average of 7.9 hours/night and parents slept 6.7 hours/night, below the recommendations of 9-11 and 7-9 hours of sleep, respectively. Shorter child sleep latency was significantly associated with better glycemic levels, and parents' sleep duration and efficiency were related to child's glycemic levels. Parental fear of hypoglycemia and lack of family routines were associated with poorer sleep quality in parents and children, and with parental diabetes distress. CONCLUSIONS: Sleep duration and quality is a modifiable target for potentially improving glycemic levels and parental distress in early school-aged children with T1D.

Calcitriol and Levothyroxine Dosing for Patients With Pseudohypoparathyroidism.

Pseudohypoparathyroidism (PHP) is a rare hormone resistance syndrome caused by mutations in GNAS. This cross-sectional study investigated whether PHP patients with parathyroid hormone (PTH), thyrotropin (thyroid stimulating hormone; TSH), and free thyroxine (T4) levels at goal required higher doses of levothyroxine and calcitriol than recommended by current guidelines to overcome mineral ion abnormalities due to hormone resistance. Baseline demographic and clinical data of participants enrolled in PHP research studies between 2012-2021 were collected via retrospective chart review. Longitudinally, data were recorded at a maximum frequency of once a year starting at 1 year of age. The PTH at goal (PAG) group was defined as PTH < 150 pg/mL and calcium ≥ 8.4 mg/dL, and the TSH and free T4 at goal (TAG) group was defined as TSH < 5 mIU/L and free T4 ≥ 0.8 ng/dL. The PAG group (n = 74) was prescribed higher calcitriol doses than the PTH not at goal (PNAG) group (n = 50) (0.9 ±â€…1.1 vs 0.5 ±â€…0.9 mcg/day, P = 0.04) and 21% of individual patients were prescribed ≥ 1.5 mcg of calcitriol daily. This remained true after normalization for body weight (0.013 ±â€…0.015 vs 0.0067 ±â€…0.0095 mcg/kg/day, P = 0.008). There was no statistically significant difference in levothyroxine dosing between the TAG group (n = 122) and TSH and free T4 not at goal (TNAG) group (n = 45) when normalized for weight (2.0 ±â€…0.7 vs 1.8 ±â€…0.7 mcg/kg/day, P = 0.2). More than one-third of patients with PHP had PTH levels not at goal and some patients required calcitriol doses ≥ 1.5 mcg/day to meet current treatment goals.