Dataset Information

PRACTICE VARIATION IN THE MANAGEMENT OF GIRLS AND BOYS WITH DELAYED PUBERTY.

ABSTRACT: Objective: Delayed puberty is a common condition, and typical management includes "watchful waiting" and/or sex-steroid therapy. We sought to characterize treatment practices and to assess provider comfort with the management of delayed puberty in girls and boys. Methods: A national survey of pediatric endocrine providers assessed definitions of delayed puberty, practices around sex-steroid therapy, reasons for treatment, and comfort in managing delayed puberty in girls and boys. Results: Of 184 respondents (12% participation rate), 64% and 71% used the traditional age cutoffs for defining delayed puberty of 13 years for girls and 14 years for boys, respectively. Nearly half (45%) of providers would treat boys relatively earlier than girls, compared to 18% who would treat girls relatively earlier (P<.0001). Providers were more likely to cite bone density as a reason to treat girls and alleviating patient and parental distress, accelerating growth, and "jump starting" puberty as reasons to treat boys. Greater experience in endocrine practice was associated with greater comfort managing delayed puberty in both boys and girls. Approximately 80% of providers agreed that clinical guidelines are needed for the management of delayed puberty. Conclusion: There is a high degree of variability in the clinical management of delayed puberty, and our results suggest that providers are more hesitant to treat girls compared to boys and have different reasons for treating each. It remains to be determined if these discrepancies in treatment are justified by biologic differences between girls and boys or represent nonevidence-based disparities in care. Abbreviation: U.S. = United States.

SUBMITTER: Zhu J

PROVIDER: S-EPMC7133108 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature

ACCESS DATA

Similar Datasets

Project description:Puberty is marked by substantial increases and emerging sex differences in psychological disorders and risky behaviors. However, few studies have examined these effects beyond adolescence, and the previous literature has been dominated by samples of White girls. The current study examines the broadest known set of health sequelae related to traditional pubertal markers and peer-relative pubertal timing in a representative sample of 14,545 U.S. youth from the National Longitudinal Study of Adolescent to Adult Health. Maturational timing was assessed by age at menarche for girls and physical development for boys (e.g., facial hair, voice change), and then categorized as early (1 SD below mean), on-time, or late (1 SD above mean) within-sex. Early and late peer-relative timing was assessed by a self-report of looking "much older" or "much younger" than one's peers. We examined psychological (depressive symptoms, antisocial behavior), behavioral (number of sex partners, drug use, physical activity, screen time, sleep hours), and physical health (self-reported health, BMI) outcomes during adolescence and young adulthood in a series of sex-stratified regression analyses using survey weights and a comprehensive set of sociodemographic covariates. Results indicated that, overall, earlier pubertal timing (i.e., maturational timing and peer-relative timing) put both girls and boys at risk during adolescence, while later timing was protective. However, longitudinal models revealed mixed results. For instance, early maturational timing was associated with higher young adult BMI (girls: β = 0.139, p < .01; boys: β = 0.107, p < .01), but later timing for boys was associated with both risky (e.g., more screen time; β = 0.125, p < .05) and health promoting (e.g., more sleep; β = .296, p < .01) behaviors. Analysis of this holistic set of outcomes with sex differences in mind allows for more careful evidence-based recommendations for adolescent health promotion.

Project description:Delayed pubertal onset has many etiologies, but on average two-thirds of patients presenting with late puberty have self-limited (or constitutional) delayed puberty. Self-limited delayed puberty often has a strong familial basis. Segregation analyses from previous studies show complex models of inheritance, most commonly autosomal dominant, but also including autosomal recessive, bilineal, and X-linked. Sporadic cases are also observed. Despite this, the neuroendocrine mechanisms and genetic regulation remain unclear in the majority of patients with self-limited delayed puberty. Only rarely have mutations in genes known to cause aberrations of the hypothalamic-pituitary-gonadal axis been identified in cases of delayed puberty, and the majority of these are in relatives of patients with congenital hypogonadotropic hypogonadism (CHH), for example in the FGFR1 and GNRHR genes. Using next generation sequencing in a large family with isolated self-limited delayed puberty, a pathogenic mutation in the CHH gene HS6ST1 was found as the likely cause for this phenotype. Additionally, a study comparing the frequency of mutations in genes that cause GnRH deficiency between probands with CHH and probands with isolated self-limited delayed puberty identified that a significantly higher proportion of mutations with a greater degree of oligogenicity were seen in the CHH group. Mutations in the gene IGSF10 have been implicated in the pathogenesis of familial late puberty in a large Finnish cohort. IGSF10 disruption represents a fetal origin of delayed puberty, with dysregulation of GnRH neuronal migration during embryonic development presenting for the first time in adolescence as late puberty. Some patients with self-limited delayed puberty have distinct constitutional features of growth and puberty. Deleterious variants in FTO have been found in families with delayed puberty with extremely low BMI and maturational delay in growth in early childhood. Recent exciting evidence highlights the importance of epigenetic up-regulation of GnRH transcription by a network of miRNAs and transcription factors, including EAP1, during puberty. Whilst a fascinating heterogeneity of genetic defects have been shown to result in delayed and disordered puberty, and many are yet to be discovered, genetic testing may become a realistic diagnostic tool for the differentiation of conditions of delayed puberty.

Dataset Information

PRACTICE VARIATION IN THE MANAGEMENT OF GIRLS AND BOYS WITH DELAYED PUBERTY.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets