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Journal of Eating Disorders Jun 2024Although growth delays and disruption are a well described medical complication of restrictive eating disorders in children and young adolescents, this complication has... (Review)
Review
BACKGROUND
Although growth delays and disruption are a well described medical complication of restrictive eating disorders in children and young adolescents, this complication has received less attention in patients with Avoidant/Restrictive Food Intake Disorder (ARFID). Patients with ARFID have challenges with adequacy of food volume and variety that are not related to body image but are instead related to lack of interest in eating, sensory concerns, and/or fears of aversive consequences. Because onset of ARFID is commonly before puberty, concerns regarding growth adequacy may present an additional treatment challenge and a unique opportunity for support.
REVIEW
Child and adolescent patients with other restrictive eating disorders are at risk of irreversible deleterious impact on growth and development, particularly when onset is before or around puberty. Although faltering growth is a defining feature of ARFID, less attention has been paid to methods for examining growth concerns in young patients with ARFID and training providers to assess growth adequacy when prepubertal and peripubertal patients present with this diagnosis. Providers working with patients under 18 years of age with eating disorders will benefit from the tools discussed in this narrative review to adequately assess growth and development against genetic potential, recognize alterations in growth that are a result of nutritional deficiencies, and support and maximize catch-up growth and development when it has been impaired.
CONCLUSION
Established pediatric growth monitoring tools and techniques to assess adequacy of growth can be applied to child and adolescent patients presenting with ARFID. These tools can improve long term outcomes in linear height for these patients and allow for monitoring during and after treatment until growth and development is complete. Medical providers caring for patients presenting with ARFID will need to establish best practices for assessing and monitoring growth.
PubMed: 38877582
DOI: 10.1186/s40337-024-01034-8 -
Environment International Jul 2024In experimental studies, several polycyclic aromatic hydrocarbons (PAHs) have shown endocrine disrupting properties, but very few epidemiological studies have examined...
BACKGROUND
In experimental studies, several polycyclic aromatic hydrocarbons (PAHs) have shown endocrine disrupting properties, but very few epidemiological studies have examined their impact on pubertal development and results have been heterogenous.
OBJECTIVE
To explore if maternal PAH exposure during pregnancy was associated with the offspring's timing of pubertal onset.
METHODS
We studied 582 mother-daughter dyads originating from a population-based cohort in a rural setting in Bangladesh. Maternal urinary samples, collected in early pregnancy (on average, gestational week 8), were analyzed for monohydroxylated metabolites of phenanthrene (1-OH-Phe, Σ2-,3-OH-Phe, and 4-OH-Phe), fluorene (Σ2-,3-OH-Flu), and pyrene (1-OH-Pyr) using liquid chromatography with tandem mass spectrometry (LC-MS/MS). The girls were interviewed on two separate occasions concerning date of menarche, as well as breast and pubic hair development according to Tanner. Associations were assessed using Kaplan-Meier analysis and multivariable-adjusted Cox proportional hazards regression or ordered logistic regression.
RESULTS
In early pregnancy, the mothers' median urinary concentrations of Σ1-,2-,3-,4-OH-Phe, Σ2-,3-OH-Flu, and 1-OH-Pyr were 3.25 ng/mL, 2.0 ng/mL, and 2.3 ng/mL respectively. At the second follow-up, 78 % of the girls had reached menarche, and the median age of menarche was 12.7 ± 0.81 years. Girls whose mothers belonged to the second and third quintiles of ΣOH-Phe metabolites had a higher rate of menarche, indicating a younger menarcheal age (HR 1.39; 95 % CI 1.04, 1.86, and HR 1.41; 95 % CI 1.05, 1.88, respectively), than girls of mothers in the lowest quintile. This trend was not observed in relation to either breast or pubic hair development. None of the other maternal urinary PAH metabolites or the sum of all thereof in early pregnancy were associated with age at menarche or pubertal stage.
CONCLUSIONS
Indications of non-monotonic associations of prenatal phenanthrene exposure with the daughters' age of menarche were found, warranting further investigation.
Topics: Humans; Female; Pregnancy; Polycyclic Aromatic Hydrocarbons; Bangladesh; Maternal Exposure; Rural Population; Adult; Prenatal Exposure Delayed Effects; Adolescent; Puberty; Child; Longitudinal Studies; Environmental Pollutants; Menarche; Cohort Studies; Young Adult
PubMed: 38875814
DOI: 10.1016/j.envint.2024.108798 -
Journal of the Endocrine Society May 2024The 2 peaks of type 1 diabetes incidence occur during early childhood and puberty.
CONTEXT
The 2 peaks of type 1 diabetes incidence occur during early childhood and puberty.
OBJECTIVE
We sought to better understand the relationship between puberty, islet autoimmunity, and type 1 diabetes.
METHODS
The relationships between puberty, islet autoimmunity, and progression to type 1 diabetes were investigated prospectively in children followed in The Environmental Determinants of Diabetes in the Young (TEDDY) study. Onset of puberty was determined by subject self-assessment of Tanner stages. Associations between speed of pubertal progression, pubertal growth, weight gain, homeostasis model assessment of insulin resistance (HOMA-IR), islet autoimmunity, and progression to type 1 diabetes were assessed. The influence of individual factors was analyzed using Cox proportional hazard ratios.
RESULTS
Out of 5677 children who were still in the study at age 8 years, 95% reported at least 1 Tanner Stage score and were included in the study. Children at puberty (Tanner Stage ≥2) had a lower risk (HR 0.65, 95% CI 0.45-0.93; = .019) for incident autoimmunity than prepubertal children (Tanner Stage 1). An increase of body mass index Z-score was associated with a higher risk (HR 2.88, 95% CI 1.61-5.15; < .001) of incident insulin autoantibodies. In children with multiple autoantibodies, neither HOMA-IR nor rate of progression to Tanner Stage 4 were associated with progression to type 1 diabetes.
CONCLUSION
Rapid weight gain during puberty is associated with development of islet autoimmunity. Puberty itself had no significant influence on the appearance of autoantibodies or type 1 diabetes. Further studies are needed to better understand the underlying mechanisms.
PubMed: 38867880
DOI: 10.1210/jendso/bvae103 -
Communications Biology Jun 2024Most genetic variants associated with fertility in mammals fall in non-coding regions of the genome and it is unclear how these variants affect fertility. Here we use...
Most genetic variants associated with fertility in mammals fall in non-coding regions of the genome and it is unclear how these variants affect fertility. Here we use genome-wide association summary statistics for Heifer puberty (pubertal or not at 600 days) from 27,707 Bos indicus, Bos taurus and crossbred cattle; multi-trait GWAS signals from 2119 indicine cattle for four fertility traits, including days to calving, age at first calving, pregnancy status, and foetus age in weeks (assessed by rectal palpation of the foetus); and expression quantitative trait locus for whole blood from 489 indicine cattle, to identify 87 putatively functional genes affecting cattle fertility. Our analysis reveals a significant overlap between the set of cattle and previously reported human fertility-related genes, impling the existence of a shared pool of genes that regulate fertility in mammals. These findings are crucial for developing approaches to improve fertility in cattle and potentially other mammals.
Topics: Animals; Cattle; Quantitative Trait Loci; Fertility; Genome-Wide Association Study; Female; Polymorphism, Single Nucleotide
PubMed: 38866948
DOI: 10.1038/s42003-024-06403-2 -
Beijing Da Xue Xue Bao. Yi Xue Ban =... Jun 2024To explore the relationship between puberty timing and cardiovascular metabolic risk factors among primary and secondary students with different genders in Beijing.
OBJECTIVE
To explore the relationship between puberty timing and cardiovascular metabolic risk factors among primary and secondary students with different genders in Beijing.
METHODS
Using the method of stratified cluster sampling by urban and rural areas and school sections, 3 067 students from 16 primary and secondary schools in Fangshan District of Beijing were selected in October 2012, with questionnaire survey, physical examination and serum laboratory testing. In this study, we controlled for confounding factors such as school segments, current residence of the family, birth weight, feeding method, only child, highest educational level of parents, and monthly family income, and then the associations between cardiovascular metabolic risk factors and puberty timing among the primary and secondary students was analyzed by multivariate Logistic analysis. To ensure the reliability of the data, this study adopted strict quality control.
RESULTS
A total of 3 067 primary and middle school students aged 7 to 16 years were included in this study, including 1 575 boys and 1 492 girls. The prevalence of premature puberty was 14.73% among the boys and 12.89% among the girls, respectively. The prevalence of delayed puberty was 9.49% among the boys and 10.99% among the girls, respectively. The detection rates of central obesity, hypertension, hyperglycemia, and dyslipidemia among the primary and secondary students were 35.87%, 19.95%, 2.54% and 26.31%, respectively. The detection rates of 1 risk factor clustering, 2 risk factors clustering and more than 3 risk factors clustering were 29.21%, 16.17% and 9.36%, respectively. The difference in the detection rate of cardiovascular and metabolic risk factors in different youth stages was insignificant (>0.05), the detection rate of risk factor aggregation of 0 was lower than that of the timely group and delayed group, and the detection rate of risk factors aggregation of 2 was higher than that of the timely group ( < 0.05).After adjusting the effects of learning stage, region, birth weight, feeding patterns, one-child, family income and the parents' educational levels, multivariate Logistic regression analysis showed that, compared with the on-time puberty group, the risk of 1 risk factor clustering, 2 risk factors clustering and more than 3 risk factors clustering increased by 1.94 times (95% =1.29-2.91), 2.97 times (95% =1.89-4.67) and 2.02 times (95% = 1.13-3.63) among the girls; It had not been found that the relationship between puberty timing and cardiovascular risk factor clustering among the boys (>0.05).
CONCLUSION
Premature puberty is an independent risk factor for the clustering of cardiometabolic risk factors in girls, and primary prevention strategies should be implemented to reduce the burden of cardiovascular metabolic diseases in the population.
Topics: Humans; Female; Male; Adolescent; Child; China; Students; Puberty; Cardiovascular Diseases; Risk Factors; Surveys and Questionnaires; Heart Disease Risk Factors; Hypertension; Dyslipidemias; Puberty, Precocious; Obesity, Abdominal; Prevalence; Hyperglycemia; Age Factors
PubMed: 38864126
DOI: 10.19723/j.issn.1671-167X.2024.03.007 -
Journal of the ASEAN Federation of... 2024We aimed to study the trend of referrals for precocious puberty during the COVID-19 pandemic compared to pre-COVID years, explore the differences in the demographic and...
OBJECTIVES
We aimed to study the trend of referrals for precocious puberty during the COVID-19 pandemic compared to pre-COVID years, explore the differences in the demographic and clinical features, and evaluate the contributing factors.
METHODOLOGY
The cases referred for assessment of PP from 2018-2021 to our endocrine centre were grouped into pre-COVID (2018-2019) and COVID (2020-2021) years. Cases fulfilling the diagnosis of PP included the onset of thelarche <8 years in females and 4 ml testicular volume <9 years in males. The PP was further differentiated as Isolated Thelarche (IST) and Central Precocious Puberty (CPP). Early menarche was defined as menarche <10 years old.
RESULTS
There were more referrals for PP and more diagnosed as CPP during the COVID-19 pandemic, predominantly among females. There were more endocrine tests done and more cases received treatment. None of the abnormal magnetic resonance imaging (MRI) pituitary findings required surgical intervention. The body mass index (BMI) was found to be positively associated with the risk of getting CPP with a crude-odd ratio (COR) of 1.8, <0.001, and early menarche (COR 2.1, <0.001).
CONCLUSION
We found a significant increase in the referrals of PP and diagnosis of CPP during the COVID-19 pandemic. Higher BMI was found to be associated with CPP and early menarche.
Topics: Humans; COVID-19; Puberty, Precocious; Female; Retrospective Studies; Male; Child; Singapore; Tertiary Care Centers; Menarche; SARS-CoV-2; Body Mass Index; Referral and Consultation
PubMed: 38863916
DOI: 10.15605/jafes.039.01.12 -
Clinical Case Reports Jun 2024Among the total 10 reported cases with 20p13 microdeletion, including our patient, it is notable that 50% of patients presented a height below the 3rd percentile. We...
KEY CLINICAL MESSAGE
Among the total 10 reported cases with 20p13 microdeletion, including our patient, it is notable that 50% of patients presented a height below the 3rd percentile. We suggest that short stature is among the most common manifestations in patients with 20p13 subtelomeric microdeletion.
ABSTRACT
Chromosome 20p13 microdeletion occurs rarely, with only 10 reported cases. We report a 16-year-old male with a 1.59 Mb terminal deletion in chromosome 20p13, who presented with proportionate short stature, mild language delay, mild learning disability, and delayed puberty. The clinical phenotype associated with this deletion can exhibit clinical variability. Our patient deviates from the typical developmental and intellectual phenotype seen in the 20p13 deletion, instead displaying mild speech delay, short stature, and delayed puberty. The deletion, leading to haploinsufficiency, might be the potential mechanism. And the prominence of his proportionate short stature provides a unique perspective to review the existing literature.
PubMed: 38863865
DOI: 10.1002/ccr3.8927 -
Frontiers in Endocrinology 2024
Topics: Turner Syndrome; Humans; Female; Adult; Young Adult; Transition to Adult Care; Adolescent
PubMed: 38859906
DOI: 10.3389/fendo.2024.1431972 -
Fertility and Sterility Jun 2024To investigate if maternal stress in pregnancy is associated with pubertal timing in girls and boys and to explore potential mediation by childhood body mass index (BMI)...
OBJECTIVE
To investigate if maternal stress in pregnancy is associated with pubertal timing in girls and boys and to explore potential mediation by childhood body mass index (BMI) and childhood psychosocial stress.
DESIGN
Cohort study.
SUBJECTS
In total, 14 702 girls and boys from the Puberty Cohort, nested within The Danish National Birth Cohort (DNBC).
EXPOSURE
Maternal stress was obtained from a computer-assisted telephone interview in gestational week 30-32 as maternal life stress and emotional distress in pregnancy using questions based on validated screening tools. Maternal life stress and emotional distress in pregnancy was analysed separately and in an interaction analysis.
MAIN OUTCOME MEASURES
Pubertal timing was measured half-yearly from age 11 years and throughout pubertal development and assessed as Tanner stages 1-5 (breast and pubic hair development in girls and genital and pubic hair development in boys), menarche in girls, voice break and first ejaculation in boys and occurrence of acne and axillary hair in both girls and boys. A combined estimate for overall pubertal timing was derived using Huber-White robust variance estimation. Mean differences in age at attaining the pubertal milestones according to prenatal exposure to no (reference), low, moderate, or high maternal stress in pregnancy were estimated using a multivariable censored regression model. Potential mediation by childhood BMI and childhood psychosocial stress was investigated in separate models.
RESULTS
After adjustment for potential confounding factors, prenatal exposure to high maternal life stress (combined estimate: -1.8 months (95% CI: -2.7, -0.8) and -0.9 months (95% CI: -1.8, 0.0)), high maternal emotional distress (combined estimate: -1.5 months (95% CI: -2.5, -0.5) and -1.7 months (95% CI: -2.8, -0.7)), and both high maternal life stress and emotional distress (combined estimate: -2.8 months (95% CI: -4.2, -1.4) and -1.7 months (95% CI: -3.1, -0.2)) was associated with earlier pubertal timing in girls and boys, respectively. The associations were not mediated by childhood BMI or childhood psychosocial stress.
CONCLUSIONS
Prenatal exposure to maternal stress in pregnancy was associated with earlier pubertal timing in girls and boys in a dose-dependent manner. The associations were not mediated by childhood BMI or childhood psychosocial stress.
PubMed: 38848953
DOI: 10.1016/j.fertnstert.2024.06.001 -
JCEM Case Reports Jun 2024OMIM 273750 (3-M) syndrome is a rare cause of severe short stature with variable dysmorphic features caused by pathogenic variants in several genes including cullin7...
OMIM 273750 (3-M) syndrome is a rare cause of severe short stature with variable dysmorphic features caused by pathogenic variants in several genes including cullin7 gene (). Hypogonadism and hypospadias have been described in only a few males. We report a patient with 7 pathogenic variant who had bifid scrotum and perineal hypospadias at birth. He entered puberty spontaneously at age 12 years and appropriately completed pubertal development by 15 years. Subsequently, a regression of testicular volumes, increased gonadotropin levels, and reduced (although normal) testosterone levels were observed. This case highlights the importance of careful pubertal monitoring as pubertal dysfunction may be associated with 3-M syndrome.
PubMed: 38847008
DOI: 10.1210/jcemcr/luae084