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Genes Mar 2024Among aneuploidies compatible with life, trisomy 22 mosaicism is extremely rare, and only about 25 postnatal and 18 prenatal cases have been described in the literature... (Review)
Review
BACKGROUND
Among aneuploidies compatible with life, trisomy 22 mosaicism is extremely rare, and only about 25 postnatal and 18 prenatal cases have been described in the literature so far. The condition is mainly characterized by facial and body asymmetry, cardiac heart defects, facial dysmorphisms, growth failure, delayed puberty, and variable degrees of neurodevelopmental delay.
PROBLEM
The scattered information regarding the condition and the dearth of data on its natural history and developmental outcomes restrict genetic counseling, particularly in prenatal settings. Moreover, a prompt diagnosis is frequently delayed by the negative selection of trisomic cells in blood, with mosaicism percentage varying among tissues, which often entails the need for further testing. Purpose/topic: The aim of our work is to provide assistance in prenatal and postnatal genetic counseling by systematically delineating the current knowledge of the condition. This entails defining the prenatal and postnatal characteristics of the condition and presenting novel data from three cases, both prenatally and postnatally. Additionally, we report the developmental outcomes observed in two new patients.
Topics: Pregnancy; Female; Humans; Mosaicism; Prenatal Diagnosis; Trisomy; Chromosomes, Human, Pair 22; Uniparental Disomy; Chromosome Disorders
PubMed: 38540405
DOI: 10.3390/genes15030346 -
Journal of Functional Morphology and... Dec 2023A healthy lifestyle from early childhood is a crucial factor that influences bone-related factors in adulthood. In this context, physical education or psychomotricity... (Review)
Review
A healthy lifestyle from early childhood is a crucial factor that influences bone-related factors in adulthood. In this context, physical education or psychomotricity from early childhood is an important opportunity to face this problem. The present article aims to systematically summarize school-based interventions, evaluated through randomized controlled trial design, that influence the bones of children from early childhood. A systematic review of relevant articles was carried out using four main databases (PubMed, ProQuest Central (including 26 databases), Scopus, and Web of Sciences) until 12 November 2023. From a total of 42 studies initially found, 12 were included in the qualitative synthesis. In brief terms, from early childhood and during puberty, children's bones are particularly responsive to exercise, making this an ideal time for interventions to maximize bone health. Therefore, incorporating physical activity into school curriculums is a strategic approach for enhancing bone health in children. Mainly, plyometric exercises can significantly enhance bone density and geometry. Nevertheless, collaboration among educators, healthcare professionals, and parents is key for designing and implementing these effective interventions.
PubMed: 38535411
DOI: 10.3390/jfmk9010002 -
Zeitschrift Fur Kinder- Und... 2024Beyond NICE: Updated Systematic Review on the Current Evidence of Using Puberty Blocking Pharmacological Agents and Cross-Sex-Hormones in Minors with Gender Dysphoria...
Beyond NICE: Updated Systematic Review on the Current Evidence of Using Puberty Blocking Pharmacological Agents and Cross-Sex-Hormones in Minors with Gender Dysphoria The suppression of physiological puberty using puberty-blocking pharmacological agents (PB) and prescribing cross-sex hormones (CSH) to minors with gender dysphoria (GD) is a current matter of discussion, and in some cases, PB and CSH are used in clinical practice for this particular population. Two systematic reviews (one on PB, one on CSH treatment) by the British National Institute for Clinical Excellence (NICE) from 2020 indicated no clear clinical benefit of such treatments regarding critical outcome variables. In particular, these two systematic NICE reviews on the use of PB and CSH in minors with GD detected no clear improvements of GD symptoms. Moreover, the overall scientific quality of the available evidence, as discussed within the above-mentioned two NICE reviews, was classified as "very low certainty" regarding modified GRADE criteria. The present systematic review presents an updated literature search on this particular topic (use of PB and CSH in minors with GD) following NICE principles and PICO criteria for all relevant new original research studies published since the release of the two above-mentioned NICE reviews (updated literature search period was July 2020-August 2023). The newly conducted literature search revealed no newly published original studies targeting NICE-defined critical and important outcomes and the related use of PB in minors with GD following PICO criteria. For CSH treatment, we found two new studies that met PICO criteria, but these particular two studies had low participant numbers, yielded no significant additional clear evidence for specific and clearly beneficial effects of CSH in minors with GD, and could be classified as "low certainty" tfollowing modified GRADE criteria. The currently available studies on the use of PB and CSH in minors with GD have significant conceptual and methodological flaws. The available evidence on the use of PB and CSH in minors with GD is very limited and based on only a few studies with small numbers, and these studies have problematic methodology and quality. There also is a lack of adequate and meaningful long-term studies. Current evidence doesn't suggest that GD symptoms and mental health significantly improve when PB or CSH are used in minors with GD. Psychotherapeutic interventions to address and reduce the experienced burden can become relevant in children and adolescents with GD. If the decision to use PB and/or CSH is made on an individual case-by-case basis and after a complete and thorough mental health assessment, potential treatment of possibly co-occurring mental health problems as well as after a thoroughly conducted and carefully executed individual risk-benefit evaluation, doing so as part of clinical studies or research projects, as currently done in England, can be of value in terms of generation of new research data. The electronic supplement (ESM) 1 is an adapted and abreviated English version of this work.
Topics: Humans; Gender Dysphoria; Adolescent; Child; Female; Male; Puberty; Minors; Gonadal Steroid Hormones; Puberty Suppression
PubMed: 38410090
DOI: 10.1024/1422-4917/a000972 -
Scientific Reports Feb 2024This study aimed to evaluate the association between age at menarche and cardiovascular (CV) events through a systematic review and meta-analysis of observational... (Meta-Analysis)
Meta-Analysis
This study aimed to evaluate the association between age at menarche and cardiovascular (CV) events through a systematic review and meta-analysis of observational studies. A comprehensive literature search covering studies published from January 1, 2000, to October 31, 2023, was conducted in PubMed, MEDLINE, Embase, and Scopus. Twenty-nine observational studies involving 4,931,160 adult women aged 18 years or older were included. The meta-analysis revealed a J-shaped association between age at menarche and CV events. Individuals with menarche at 12-13 years exhibited the lowest risk, while those with younger (≤ 11 years) or older ages (14-15 years and ≥ 16 years) showed an increased risk. Notably, individuals with age at menarche of 16 years and older had the highest risk of CV events. The pooled odds of CV mortality in age at menarche categories 14-15 years and ≥ 16 years were 37% (OR: 1.37, 95% CI 1.14-1.64, I: 76.9%) and 64% (OR: 1.64, 95% CI 1.20-2.24, I: 87%) higher than referent age at menarche 12-13 years. No statistically significant difference was found in CV mortality risk between individuals with age at menarche ≤ 11 years and those with age at menarche 12-13 years. The ORs for coronary heart disease were significantly higher for age at menarche ≥ 16 years (35% increase), while no significant difference was found for age at menarche ≤ 11 years or 14-15 years compared to age at menarche 12-13 years. Regarding stroke, the ORs for age at menarche ≤ 11, 14-15, and ≥ 16 years were significantly higher (7%, 24%, and 94% increase, respectively) compared to age at menarche 12-13 years. Dose-response meta-analysis and one-stage random-effect cubic spline models confirmed the J-shaped risk pattern. Meta-regression indicated that age and BMI were not significant sources of heterogeneity. Sensitivity analyses and the absence of publication bias further supported the robustness of the findings. This study concludes that age at menarche is independently associated with CV events, with a J-shaped pattern. The findings underscore the significance of considering menarche age as an independent risk factor for CV events. Further research is warranted to validate these findings and explore potential underlying mechanisms.
Topics: Adult; Humans; Female; Menarche; Risk Factors; Stroke; Coronary Disease; Heart Disease Risk Factors; Cardiovascular Diseases; Observational Studies as Topic
PubMed: 38302648
DOI: 10.1038/s41598-024-53011-5 -
Cureus Dec 2023Gestational diabetes mellitus (GDM) is the most common complication of pregnancy that arises in the 2nd and 3rd trimesters, leading to significant complications for the... (Review)
Review
Gestational diabetes mellitus (GDM) is the most common complication of pregnancy that arises in the 2nd and 3rd trimesters, leading to significant complications for the mother and her neonates, such as an increased rate of pregnancy-induced hypertension and miscarriages, while neonates may have a large birth weight, hypoglycemia, or macrosomnia. Numerous risk factors can lead to GDM; however, a significant one is polycystic ovarian syndrome (PCOS). PCOS is the most common endocrine pathology beginning before puberty, and due to significant hormonal changes, it is not diagnosed until after puberty. PCOS requires at least three of the following symptoms: hyperandrogenism, menstrual irregularities, or polycystic ovary morphology. While it is agreed that women with PCOS are at a significantly increased risk of GDM, no publication to our knowledge has evaluated the full relationship of GDM in the setting of PCOS. This paper aimed to assess this relationship and determine how it may differ for pregnant women with only GDM by determining the prevalence of GDM, the variations within phenotypes, the influence of fertilization methods, specific risk factors, maternal outcomes, and neonatal outcomes. The prevalence of GDM was significantly increased in women with PCOS compared to healthy controls, and some studies have found that phenotype A may be more likely to lead to GDM. Risk factors were similar to pregnant women with only GDM, but with GDM and PCOS specifically, preconception low sex hormone-binding globulin, increased BMI > 25 kg/m2, and preconception impaired glucose tolerance were specific. While maternal outcomes were similar to pregnant women with only GDM, women with GDM and PCOS were even more likely to develop pregnancy-induced hypertension and early miscarriage. Neonates from mothers with GDM and PCOS were more likely to have low birth weights compared to mothers with just GDM who had high birth weights. The evaluation of the relationship between GDM and PCOS allows for illumination of the need to evaluate influences that currently lack research, such as phenotype variation and influences of fertilization method. This also promotes the need to develop predictive algorithms based on risk factors to prevent these adverse outcomes for mothers and neonates.
PubMed: 38234933
DOI: 10.7759/cureus.50725 -
Clinical Therapeutics Feb 2024Turner syndrome (TS) is the most common sex chromosomal abnormality found in female subjects. It is a result of a partial or complete loss of one of the X chromosomes.... (Review)
Review
PURPOSE
Turner syndrome (TS) is the most common sex chromosomal abnormality found in female subjects. It is a result of a partial or complete loss of one of the X chromosomes. Short stature is a hallmark of TS. Attainment of adult height (AH) within the normal range for height within the general female population represents the usual long-term goal of growth hormone (GH) treatment. The aim of this systematic review was to understand the efficacy of GH therapy on AH of patients with TS.
METHODS
The literature review yielded for analysis 9 articles published from 2010 to 2021. Using the data from this literature search, the goal was to answer 5 questions: (1) What is the efficacy of GH on AH of girls with TS?; (2) Is AH influenced by the age at initiation of GH treatment?; (3) What is the optimal dose of GH to improve AH?; (4) Can the timing of either spontaneous or induced puberty influence AH?; and (5) Can the karyotype influence AH in patients with TS?
FINDINGS
GH therapy and adequate dose could enable patients with TS to achieve appropriate AH compared with the possible final height without therapy. The greatest increase in height during GH therapy occurs in the prepubertal years, and if therapy is continued to AH, there is no further increase. Furthermore, karyotype did not show a predictive value on height prognosis and did not affect the outcome of GH administration or the height gain in girls with TS.
IMPLICATIONS
Even if GH therapy is safe, close monitoring is indicated and recommended. Further evidence is needed to understand what other parameters may influence AH in patients undergoing GH therapy.
Topics: Adult; Humans; Female; Human Growth Hormone; Turner Syndrome; Body Height; Palliative Care
PubMed: 38151406
DOI: 10.1016/j.clinthera.2023.12.004 -
Children (Basel, Switzerland) Nov 2023Polycystic ovary syndrome (PCOS) is a common endocrine disorder that affects women of reproductive age and female adolescents. The diagnosis of PCOS is difficult during... (Review)
Review
BACKGROUND
Polycystic ovary syndrome (PCOS) is a common endocrine disorder that affects women of reproductive age and female adolescents. The diagnosis of PCOS is difficult during puberty due to overlapping of the criteria with normal variations of menstruation during this age period. There are insufficient data on the gut microbiome and PCOS and potential mechanisms linking the two. The present systematic review aimed to detect dysbiosis patterns in youth with PCOS, compared with healthy controls.
METHODS
One hundred seventy-eight studies were identified by a databases search and sixty-eight by a full-text assessment for eligibility; four were included in the systematic review and underwent quality control.
RESULTS
The results of the study were controversial in accordance to findings from the literature. A change in gut microbiome α diversity was found in PCOS adolescents, with no significant alterations in β diversity. Almost all studies found Firmicutes, Bacteroidetes, and Actinobacteria in abundance in both groups, with changes in family composition and fluctuations at the phylum level. A statistically significant association between these changes and clinical or biochemical features of the syndrome was described.
CONCLUSIONS
This systematic review confirmed gut microbiota dysbiosis in youth with PCOS. However, further data are needed to clarify these changes and to build a strategy to prevent the syndrome.
PubMed: 38136074
DOI: 10.3390/children10121872 -
Journal of Child Health Care : For... Dec 2023Transgender and gender-diverse (TGD) populations are identified as high-risk for negative healthcare outcomes. Limited data exists on experiences of TGD youths in... (Review)
Review
Transgender and gender-diverse (TGD) populations are identified as high-risk for negative healthcare outcomes. Limited data exists on experiences of TGD youths in healthcare. The review aim is to systematically review literature on healthcare experiences of TGD youths. Seven electronic databases were systematically searched for relevant studies. Pre-determined eligibility criteria were used for inclusion with a double-screening approach. Sixteen studies were included. Studies included were quality appraised, data were extracted, and findings were synthesized narratively. Four narratives were identified including experiences of: accessing care, healthcare settings and services, healthcare providers, and healthcare interventions. Long waiting times, lack of competent providers, and fear were reported as challenges to accessing gender-affirming care. Negative experiences occurred in mental health services and primary care, while school counseling and gender clinics were affirming. Puberty blockers and hormone-replacement therapy were identified as protective factors. TGD youths are at risk of negative health outcomes due to an under resourced healthcare system. Further research is needed to assess interventions implemented to improve TGD youth's experiences.
PubMed: 38131632
DOI: 10.1177/13674935231222054 -
European Journal of Endocrinology Jan 2024Hypogonadotropic hypogonadism is characterized by inadequate secretion of pituitary gonadotropins, leading to absent, partial, or arrested puberty. In males, classical... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
Hypogonadotropic hypogonadism is characterized by inadequate secretion of pituitary gonadotropins, leading to absent, partial, or arrested puberty. In males, classical treatment with testosterone promotes virilization but not testicular growth or spermatogenesis. To quantify treatment practices and efficacy, we systematically reviewed all studies investigating gonadotropins for the achievement of pubertal outcomes in males with hypogonadotropic hypogonadism.
DESIGN
Systematic review and meta-analysis.
METHODS
A systematic review of Medline, Embase, Global Health, and PsycINFO databases in December 2022. Risk of Bias 2.0/Risk Of Bias In Non-randomized Studies of Interventions/National Heart, Lung, and Blood Institute tools for quality appraisal. Protocol registered on PROSPERO (CRD42022381713).
RESULTS
After screening 3925 abstracts, 103 studies were identified including 5328 patients from 21 countries. The average age of participants was <25 years in 45.6% (n = 47) of studies. Studies utilized human chorionic gonadotropin (hCG) (n = 93, 90.3% of studies), human menopausal gonadotropin (n = 42, 40.8%), follicle-stimulating hormone (FSH) (n = 37, 35.9%), and gonadotropin-releasing hormone (28.2% n = 29). The median reported duration of treatment/follow-up was 18 months (interquartile range 10.5-24 months). Gonadotropins induced significant increases in testicular volume, penile size, and testosterone in over 98% of analyses. Spermatogenesis rates were higher with hCG + FSH (86%, 95% confidence interval [CI] 82%-91%) as compared with hCG alone (40%, 95% CI 25%-56%). However, study heterogeneity and treatment variability were high.
CONCLUSIONS
This systematic review provides convincing evidence of the efficacy of gonadotropins for pubertal induction. However, there remains substantial heterogeneity in treatment choice, dose, duration, and outcomes assessed. Formal guidelines and randomized studies are needed.
Topics: Humans; Male; Chorionic Gonadotropin; Follicle Stimulating Hormone; Gonadotropin-Releasing Hormone; Gonadotropins; Hypogonadism; Klinefelter Syndrome; Spermatogenesis; Testis; Testosterone; Young Adult
PubMed: 38128110
DOI: 10.1093/ejendo/lvad166 -
Frontiers in Endocrinology 2023Some studies have investigated the association between vitamin D levels and precocious puberty (PP) but with limited sample sizes and inconsistent conclusions across... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Some studies have investigated the association between vitamin D levels and precocious puberty (PP) but with limited sample sizes and inconsistent conclusions across studies.
METHODS
Until July 2022, a comprehensive electronic search of works of literature was conducted in MEDLINE, Web of Science, and CNKI (Chinese National Knowledge Infrastructure). A systematic review and meta-analysis of 15 case-control studies with 2145 cases and 2063 controls was conducted to explore the relationship between vitamin D and PP. Stratified analyses by year of publication, country, diagnosis category of PP, child's sex, and methods of 25(OH)D test were conducted.
RESULTS
There was a negative correlation between 25(OH)D concentrations and PP in all study populations (SMD = -1.046, 95%CI = -1.366, -0.726). The pooled SMD remained significant in Chinese studies (SMD = -1.113, 95%CI = -0.486, -0.741), studies published before or after 2018 (SMD = -0.9832 and -1.185, 95%CI = -2.044, -1.133 and -1.755, -0.726), studies with female children (SMD = -1.114, 95%CI = -1.446, -0.781), and studies using electrochemiluminescence to detect 25(OH)D (SMD = -0.999, 95%CI = -1.467, -0.531). Vitamin D deficiency also increased the risk of PP (OR = 1.531, 95%CI = 1.098, 2.134). Unfortunately, heterogeneity was high in all analyses, and there was some publication bias.
CONCLUSION
This systematic review and meta-analysis demonstrated an association between vitamin D and precocious puberty. We recommend more high-quality studies, especially prospective cohort studies with big sample sizes or some randomized controlled intervention trials, to validate the reliability of the results.
Topics: Child; Humans; Female; Vitamin D; Puberty, Precocious; Prospective Studies; Reproducibility of Results; Vitamins
PubMed: 38116317
DOI: 10.3389/fendo.2023.1298374