Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders. 21-hydroxylase deficiency, in which there are mutations in CYP21A2 (the gene encoding the adrenal 21-hydroxylase enzyme), is the most common form (90%) of CAH. In classic CAH there is impaired cortisol production with diagnostic increased levels of 17-OH progesterone. Excess androgen production results in virilization and in the newborn female may cause development of ambiguous external genitalia. Three-fourths of patients with classic CAH also have aldosterone insufficiency, which can result in salt-wasting; in infancy this manifests as shock, hyponatremia and hyperkalemia. CAH has a reported incidence of 1:10,000–1:20,000 births although there is an increased prevalence in certain ethnic groups. Nonclassic CAH (NCCAH) is a less severe form of the disorder, in which there is 20–50% of 21-hydroxylase enzyme activity (vs. 0–5% in classic CAH) and no salt wasting. The degree of symptoms related to androgen excess is variable and may be progressive with age, although some individuals are asymptomatic. NCCAH has an incidence of 1:1000–1:2000 births (0.1–0.2% prevalence) in the White population; an even higher prevalence is noted in certain ethnic groups such as Ashkenazi Jews (1–2%). As many as two-thirds of persons with NCCAH are compound heterozygotes and carry a severe and mild mutation on different alleles. This paper discusses the genetics of NCCAH, along with its variable phenotypic expression, and reviews the clinical course in untreated patients, which includes rapid early childhood growth, advanced skeletal age, premature adrenarche, acne, impaired reproductive function in both sexes and hirsutism as well as menstrual disorders in females. Finally, it addresses treatment with glucocorticoids vs. and other alternatives, particularly with respect to long term issues such as adult metabolic disease including insulin resistance, cardiovascular disease, metabolic syndrome, and bone mineral density.
POWER is an established national registry representing a diverse sample of youth with obesity participating in multicomponent PWM programs across the United States. Using high-quality data collection and a collaborative research infrastructure, POWER aims to contribute to the development of evidence-based guidelines for multicomponent PWM programs.
Household food insecurity was not associated with child BMI percentile in this study. Dietary intake patterns of children from food-insecure households were not different compared to those from food-secure households.
Obesity rates in preschool children are high and disproportionately affect low-income children of color in the USA. Since 80% of preschool children spend ∼40 h/week in out-of-the home childcare, childcare centers are promising sites for obesity prevention interventions. Mixed methods were used to develop, implement, and assess the feasibility of an obesity prevention program for children 2-5 years. The intervention which consisted of brief (1-3 min), interactive, educational modules was developed by content experts and parents (n = 20) and targeted four areas (milk, sugar sweetened beverages, screen time, and physical activity). The modules were delivered by community health workers in the childcare center during pick-up and drop-off times, in small groups and home visits upon request. Focus groups with childcare center staff (n = 28) assessed satisfaction and interest in incorporating the intervention into care. Between February 2013 and March 2014, 354 caregivers (∼73%) at six centers participated in one or more educational sessions. Of children, 37.4% in 2013 and 35.9% in 2014 were overweight or obese. Children entering preschool in 2014 were more likely to be overweight/obese than children who had been in the center since 2013 (36.2 vs 23.2%, p < 0.05). Childcare staff endorsed the intervention and received training to continue the program. Brief, interactive health-related behavior-change interventions engaged large numbers of low-income caregivers at childcare centers and resonated with center staff. Childcare center staff represent an underutilized resource to combat the childhood obesity epidemic.
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