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American Journal of Medical Genetics.... Jun 2020Klinefelter syndrome is highly underdiagnosed and diagnosis is often delayed. With the introduction of non-invasive prenatal screening, the diagnostic pattern will... (Review)
Review
Klinefelter syndrome is highly underdiagnosed and diagnosis is often delayed. With the introduction of non-invasive prenatal screening, the diagnostic pattern will require an updated description of the clinical and biochemical presentation of infants with Klinefelter syndrome. In the first months of life, the hypothalamic-pituitary-gonadal (HPG)-axis is transiently activated in healthy males during the so-called minipuberty. This period represents a "window of opportunity" for evaluation of the HPG-axis before puberty and without stimulation tests. Infants with Klinefelter syndrome present with a hormonal surge during the minipuberty. However, only a limited number of studies exist, and the results are contradictory. Further studies are needed to clarify whether infants with Klinefelter syndrome present with impaired testosterone production during the minipuberty. The aim of this review is to describe the clinical and biochemical characteristics of the neonate and infant with Klinefelter syndrome with special focus on the minipuberty and to update the clinical recommendations for Klinefelter syndrome during infancy.
Topics: Humans; Hypothalamo-Hypophyseal System; Infant, Newborn; Klinefelter Syndrome; Male; Noninvasive Prenatal Testing; Puberty
PubMed: 32476267
DOI: 10.1002/ajmg.c.31794 -
Nature Reviews. Endocrinology Feb 2024An individual's nutritional status has a powerful effect on sexual maturation. Puberty onset is delayed in response to chronic energy insufficiency and is advanced under... (Review)
Review
An individual's nutritional status has a powerful effect on sexual maturation. Puberty onset is delayed in response to chronic energy insufficiency and is advanced under energy abundance. The consequences of altered pubertal timing for human health are profound. Late puberty increases the chances of cardiometabolic, musculoskeletal and neurocognitive disorders, whereas early puberty is associated with increased risks of adult obesity, type 2 diabetes mellitus, cardiovascular diseases and various cancers, such as breast, endometrial and prostate cancer. Kennedy and Mitra's trailblazing studies, published in 1963 and using experimental models, were the first to demonstrate that nutrition is a key factor in puberty onset. Building on this work, the field has advanced substantially in the past decade, which is largely due to the impressive development of molecular tools for experimentation and population genetics. In this Review, we discuss the latest advances in basic and translational sciences underlying the nutritional and metabolic control of pubertal development, with a focus on perspectives and future directions.
Topics: Male; Adult; Humans; Diabetes Mellitus, Type 2; Puberty; Sexual Maturation; Obesity; Prostatic Neoplasms
PubMed: 38049643
DOI: 10.1038/s41574-023-00919-z -
Endocrine Practice : Official Journal... Apr 2024This study aims to explore the significant impact of environmental chemicals on disease development, focusing on their role in developing metabolic and endocrine... (Review)
Review
OBJECTIVE
This study aims to explore the significant impact of environmental chemicals on disease development, focusing on their role in developing metabolic and endocrine diseases. The objective is to understand how these chemicals contribute to the increasing prevalence of precocious puberty, considering various factors, including epigenetic changes, lifestyle, and emotional disturbances.
METHODS
The study employs a comprehensive review of descriptive observational studies in both human and animal models to identify a degree of causality between exposure to environmental chemicals and disease development, specifically focusing on endocrine disruption. Due to ethical constraints, direct causation studies in human subjects are not feasible; therefore, the research relies on accumulated observational data.
RESULTS
Puberty is a crucial life period with marked physiological and psychological changes. The age at which sexual characteristics develop is changing in many regions. The findings indicate a correlation between exposure to endocrine-disrupting chemicals and the early onset of puberty. These chemicals have been shown to interfere with normal hormonal processes, particularly during critical developmental stages such as adolescence. The research also highlights the interaction of these chemical exposures with other factors, including nutritional history, social and lifestyle changes, and emotional stress, which together contribute to the prevalence of precocious puberty.
CONCLUSION
Environmental chemicals significantly contribute to the development of certain metabolic and endocrine diseases, particularly in the rising incidence of precocious puberty. Although the evidence is mainly observational, it adequately justifies regulatory actions to reduce exposure risks. Furthermore, these findings highlight the urgent need for more research on the epigenetic effects of these chemicals and their wider impact on human health, especially during vital developmental periods.
Topics: Adolescent; Animals; Humans; Endocrine Disruptors; Endocrine System; Endocrine System Diseases; Puberty; Puberty, Precocious; Observational Studies as Topic
PubMed: 38185329
DOI: 10.1016/j.eprac.2024.01.006 -
The Journal of Adolescent Health :... Jun 2021
Topics: Adolescent; Female; Humans; Mental Health; Puberty
PubMed: 34023059
DOI: 10.1016/j.jadohealth.2021.03.017 -
Journal of Adolescence Apr 2021Sexual development in females and males are routinely measured according to the Tanner Stages. Sparse data exist on the timing of pubertal milestones in Pakistan. To... (Review)
Review
INTRODUCTION
Sexual development in females and males are routinely measured according to the Tanner Stages. Sparse data exist on the timing of pubertal milestones in Pakistan. To fill this gap, the age of attainment of pubertal milestones and their relationship with nutritional status was explored among children and adolescents living in the rural district of Matiari, Pakistan.
METHODS
Anthropometry, nutrition biomarkers and Tanner Stage were assessed among girls aged 9.0-14.9 years (n = 723) and boys aged 10.0-15.9 years (n = 662) who were free from known disease in the rural District of Matiari, Pakistan. Median age was calculated for all Tanner Stages and menarche. Multivariable linear regressions were undertaken to determine covariates associated with the timing (age) of pubertal milestones.
RESULTS
Among participants living in this rural community, the median age of puberty onset for girls was 11.9 years (95%CI:10.9; 12.5) and boys was 12.3 years (95%CI:11.5; 12.9). Age at first menarche was 12.9 years (95%CI:12.1; 13.3). Undernutrition was widespread among adolescents in this community. Thirty-seven percent of females and 27.0% of males were stunted while 20.5% of females and 31.3% of males were thin. Only 8% (n = 58) of females and 12% (n = 78) of males were free from any nutrient deficiency with most adolescents having two or three nutrient deficiencies.
CONCLUSIONS
Undernutrition (stunting or thinness) was associated with relatively older ages for early puberty stages but not puberty completion. This may decrease the duration of the pubertal growth spurt and curtail potential catch-up growth that may occur during puberty. Efforts to decrease nutrient deficiencies, stunting and thinness beyond childhood should be made in rural Pakistan.
Topics: Adolescent; Aged; Child; Female; Humans; Male; Malnutrition; Menarche; Middle Aged; Nutritional Status; Pakistan; Puberty; Rural Population
PubMed: 33618265
DOI: 10.1016/j.adolescence.2021.02.002 -
Neuroendocrinology 2021Traditionally sex hormones have been associated with reproductive and developmental processes only. Since the 1950s we know that hormones can have organizational effects... (Review)
Review
Traditionally sex hormones have been associated with reproductive and developmental processes only. Since the 1950s we know that hormones can have organizational effects on the developing brain and initiate hormonal transition periods such as puberty. However, recent evidence shows that sex hormones additionally structure the brain during important hormonal transition periods across a woman's life including short-term fluctuations during the menstrual cycle. However, a comprehensive review focusing on structural changes during all hormonal transition phases of women is still missing. Therefore, in this review structural changes across hormonal transition periods (i.e., puberty, menstrual cycle, oral contraceptive intake, pregnancy and menopause) were investigated in a structured way and correlations with sex hormones evaluated. Results show an overall reduction in grey matter and region-specific decreases in prefrontal, parietal and middle temporal areas during puberty. Across the menstrual cycle grey matter plasticity in the hippocampus, the amygdala as well as temporal and parietal regions were most consistently reported. Studies reporting on pre- and post-pregnancy measurements revealed volume reductions in midline structures as well as prefrontal and temporal cortices. During perimenopause, the decline in sex hormones was paralleled with a reduction in hippocampal and parietal cortex volume. Brain volume changes were significantly correlated with estradiol, testosterone and progesterone levels in some studies, but directionality remains inconclusive between studies. These results indicate that sex hormones play an important role in shaping women's brain structure during different transition periods and are not restricted to specific developmental periods.
Topics: Cerebral Cortex; Contraceptives, Oral; Female; Gonadal Steroid Hormones; Gray Matter; Human Development; Humans; Menopause; Menstrual Cycle; Postpartum Period; Pregnancy; Puberty; White Matter
PubMed: 32155633
DOI: 10.1159/000507083 -
Hormone Research in Paediatrics 2021Youth with obesity have abnormal vascular function that relates to the anti-atherogenic adipose-derived hormone, adiponectin. The distribution of adiponectin isomers...
INTRODUCTION
Youth with obesity have abnormal vascular function that relates to the anti-atherogenic adipose-derived hormone, adiponectin. The distribution of adiponectin isomers changes during normal puberty, but there are no data in relation to vascular function. We aimed to evaluate vascular function, adiponectin, and its isomers longitudinally in peri-pubertal youth with obesity and controls.
METHODS
The study is a cohort longitudinal study involving 30 children and adolescents with obesity (body mass index [BMI] z-score 2.31 ± 0.24; age 12.8 ± 3 years, 17 male participants) and 28 age-/sex-matched healthy controls (12.8 ± 3 years, 14 male participants). Vascular function (flow-mediated dilatation [FMD], glyceryl trinitrate-mediated dilatation [GTN]), total adiponectin and isomers, and laboratory and clinical variables were assessed at 0, 18, and 36 months.
RESULTS
FMD and GTN were stable during puberty in both groups, remaining consistently lower in obese children (p = 0.02, p < 0.001). The change in total (p = 0.02) and high-molecular weight (HMW) (p = 0.02) adiponectin differed between the groups: falling in controls by the end of puberty but not falling further during puberty in obesity. In obesity, impaired GTN was associated longitudinally with lower total (B = 7.85, p = 0.006) and HMW (B = 3.72, p = 0.03) adiponectin. In controls, more favourable GTN was longitudinally associated with a lower BMI z-score (B = -3.04, p = 0.027) and lower waist circumference (B = -0.35, p = 0.009).
CONCLUSIONS
Vascular dysfunction and lower levels of adiponectin are associated in children and adolescents with obesity during puberty and do not deteriorate further. Healthy children's better vascular function, within the normal range, is associated with a lower BMI z-score and waist circumference.
Topics: Adiponectin; Blood Circulation; Blood Vessels; Body Mass Index; Child; Cohort Studies; Female; Humans; Isomerism; Longitudinal Studies; Male; Pediatric Obesity; Puberty; Waist Circumference
PubMed: 34348299
DOI: 10.1159/000518649 -
Human Reproduction Update Aug 2022Globally, the ages at pubertal onset for girls and boys have been decreasing during recent decades, partly attributed to excess body fat accumulation. However, a growing... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Globally, the ages at pubertal onset for girls and boys have been decreasing during recent decades, partly attributed to excess body fat accumulation. However, a growing body of literature has recognized that endocrine disrupting chemicals (EDCs) may play an important role in this global trend, but the association has not yet been fully established.
OBJECTIVE AND RATIONALE
EDCs can interfere with normal hormone function and metabolism and play a role in pubertal onset. We aimed to systematically identify and evaluate the current evidence on the timing of pubertal onset in girls and boys following prenatal or postnatal exposures to xenobiotic EDCs.
SEARCH METHODS
Following PRISMA guidelines, we performed a systematic literature search of original peer-reviewed publications in the PubMed database through a block search approach using a combination of index MeSH and free text search terms. Publications were considered if they covered biomarkers of prenatal or postnatal exposures to xenobiotic EDCs (European Commission's list of category 1 EDCs) measured in maternal or child biospecimen and pubertal onset defined by the progression of the following milestones (and assessed in terms of the following measures): menarche (age), thelarche (Tanner staging) and pubarche (Tanner staging), in girls, and genital stage (Tanner staging), testicular volume (ml) and pubarche (Tanner staging), in boys.
OUTCOMES
The literature search resulted in 703 references, of which we identified 52 publications fulfilling the eligibility criteria for the qualitative trend synthesis and 23 publications for the meta-analysis. The qualitative trend synthesis provided data on 103 combinations of associations between prenatal or postnatal exposure to EDC compounds groups and puberty outcomes and the meta-analysis enabled 18 summary risk estimates of meta-associations.
WIDER IMPLICATIONS
Statistically significant associations in the qualitative trend synthesis suggested that postnatal exposure to phthalates may be associated with earlier thelarche and later pubarche. However, we did not find consistent evidence in the meta-analysis for associations between timing of pubertal onset in girls and boys and exposures to any of the studied xenobiotic EDCs. We were not able to identify specific pre- or postnatal windows of exposure as particularly critical and susceptible for effects of EDCs. Current evidence is subject to several methodological challenges and inconsistencies and evidence on specific exposure-outcome associations remains too scarce to firmly confirm EDC exposure as a risk factor for changes in age of pubertal onset in the general child population. To create a more uniform foundation for future comparison of evidence and to strengthen pooled studies, we recommend the use of more standardized approaches in the choice of statistical analyses, with exposure transformations, and in the definitions and assessments of puberty outcomes. The impact of mixtures of EDC exposures on the association also remains unestablished and would be valuable to elucidate for prenatal and postnatal windows of exposure. Future large, longitudinal epidemiological studies are needed to clarify the overall association.
Topics: Child; Endocrine Disruptors; Female; Humans; Longitudinal Studies; Male; Menarche; Pregnancy; Puberty; Xenobiotics
PubMed: 35466359
DOI: 10.1093/humupd/dmac013 -
Turk Psikiyatri Dergisi = Turkish... 2022Rapid physical, psychological and sexual changes in adolescents due to the developmental process differentiate the approach to adolescents with gender dysphoria (GD)...
Rapid physical, psychological and sexual changes in adolescents due to the developmental process differentiate the approach to adolescents with gender dysphoria (GD) from the approach to adults. In this article, two adolescents who applied for GD and followed up for a long time are presented. The first case was assigned male at birth and defined herself as female. At the age of fifteen, a gonadotropin-releasing hormone analog was started for puberty suppression, and sex hormone was started in the follow-up. The second case's assigned sex was female and defined himself as male. At the age of sixteen years and six months, puberty suppressive treatment was started, followed by sex hormones. Both cases were able to continue their psychosocial development without any problems after the psychiatric and physical treatments they could reach on time. Although GD in adolescents cannot be resolved with puberty suppression alone, it creates time to resolve the acute problems and to search for appropriate treatment approaches in the future. Puberty suppression partially relieves and prevents the exacerbation of the dysphoria experienced by the youth diagnosed as GD, and creates time to search appropriate treatment approaches in the follow-up. Through these two cases, it is aimed to introduce the gender affirmation processes of adolescents with GD, to discuss the medical interventions in adolescence and the psychosocial effects of the process on individuals. Keywords: Gender dysphoria, gender incongruence, adolescence, gender affirmation process, puberty supression, puberty blockers.
Topics: Adolescent; Adult; Female; Follow-Up Studies; Gender Dysphoria; Gender Identity; Gonadal Steroid Hormones; Gonadotropin-Releasing Hormone; Humans; Infant, Newborn; Male; Puberty
PubMed: 36148573
DOI: 10.5080/u26795 -
Tidsskrift For Den Norske Laegeforening... Sep 2020
Topics: Age Factors; Body Mass Index; Humans; Puberty
PubMed: 32900174
DOI: 10.4045/tidsskr.20.0043