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BMC Public Health Feb 2024Endometriosis (EMs) is a chronic and progressive disease that, if diagnosed late, can lead to infertility and deep infiltrating endometriosis (DIE). Dysmenorrhea is the...
BACKGROUND
Endometriosis (EMs) is a chronic and progressive disease that, if diagnosed late, can lead to infertility and deep infiltrating endometriosis (DIE). Dysmenorrhea is the most prominent symptom of EMs. However, limited research exists on the specific correlation between dysmenorrhea patterns and EMs. Early prevention of EMs is essential to effectively manage the progression of the disease, and is best detected during adolescence. Our objective was to associate the development of EMs with dysmenorrhea patterns during adolescence and quantify the risk of adult EMs for adolescent girls, with the aim of supporting primary intervention strategy planning.
METHODS
This case-control study examined predictors for adult EMs based on dysmenorrhea patterns in adolescents. We collected 1,287 cases of 641 EMs and 646 healthy females regarding their basic demographic information, adolescent menstrual characteristics, adolescent dysmenorrheal patterns, and adolescent lifestyles. Age-matching (1-to-1) was employed to control for the confounding effect of age between the groups. Least Absolute Shrinkage and Selection Operator (LASSO) and logistic regression models were utilized to identify predictors for adult EMs. The predictive value of the model was evaluated using the area under the receiver operating characteristic curve (AUC) and the C-index, while Hosmer-Lemeshow Test assessed the goodness of fit of the model. Data from one additional cohort in Shenzhen hospitalized with EMs were used to external validation were analyzed.
RESULTS
Individuals who always experienced dysmenorrhea had a risk of adult endometriosis 18.874 (OR = 18.874; 95%CI = 10.309-34.555) times higher than those occasional dysmenorrhea, The risk of developing EMs was 5.257 times higher in those who experienced dysmenorrhea more than 12 months after menarche than in those who experienced dysmenorrhea less than 6 months after menarche (OR = 5.257, 95% CI = 3.343-8.266), AUC in the external validation cohort was 0.794(95%CI: 0.741-0.847). We further found that high-intensity physical activity and sun-sensitive skin of burning were influential factors in high-frequency dysmenorrhea. The AUC value for the internal evaluation of the model was 0.812 and the AUC value for the external validation was 0.794.
CONCLUSION
Our findings revealed that the frequency of dysmenorrhea during adolescence contributed to the development of adult endometriosis. The frequency and onset of dysmenorrhea in adolescence were promising predictors for adult EMs. Both internal and external validation proved the model's good predictive ability.
TRIAL REGISTRATION
http://www.chictr.org.cn/ , TRN: ChicTR2200060429, date of registration: 2022/06/01, retrospectively registered.
Topics: Adult; Female; Adolescent; Humans; Endometriosis; Dysmenorrhea; Case-Control Studies; Menstruation; Menarche
PubMed: 38317119
DOI: 10.1186/s12889-024-17825-2 -
Frontiers in Endocrinology 2023The life expectancy of Pompe disease patients has increased due to improved neonatal screening and enzyme replacement therapy. Nevertheless, the potential effect of...
INTRODUCTION
The life expectancy of Pompe disease patients has increased due to improved neonatal screening and enzyme replacement therapy. Nevertheless, the potential effect of frequent medical device exposure on pubertal development in these patients is not well understood, so further investigation is warranted.
METHODS
In this cross-sectional study, we assessed the growth and puberty of nine Pompe disease patients. In addition, to determine the effects of frequent plastic medical device exposure in these patients, we measured urinary phthalate metabolites before and one day after enzyme replacement therapy.
RESULTS
Five out of nine patients (55%) with Pompe disease on enzyme replacement therapy had precocious puberty. Patients with precocious puberty had significantly shorter predicted adult heights compared to those with normal puberty ( = 0.014). The levels of mono-2-ethylhexyl phthalate (MEHP) and mono(2-ethyl-5-carboxypentyl) phthalate (MECPP) increased after enzyme replacement therapy, but the average levels of phthalate metabolites did not significantly differ between patients with normal and precocious puberty.
CONCLUSION
Pompe disease patients on enzyme replacement therapy tend to have precocious puberty, which may reduce their adult height. There are no significant differences in urinary phthalate metabolites between normal and precocious puberty patients. Regular follow-up of growth and puberty in Pompe disease patients is important to improve their health outcomes.
Topics: Adult; Infant, Newborn; Humans; Glycogen Storage Disease Type II; Cross-Sectional Studies; Puberty, Precocious; Enzyme Replacement Therapy
PubMed: 37654562
DOI: 10.3389/fendo.2023.1150498 -
The Journal of Clinical Endocrinology... Aug 2023Accelerated early growth and early timing of puberty or pubertal variant have been noticed as risk factors for metabolic syndrome, more frequently observed in children... (Review)
Review
Accelerated early growth and early timing of puberty or pubertal variant have been noticed as risk factors for metabolic syndrome, more frequently observed in children born small for gestational age (SGA) or children with premature adrenarche (PA). Children with SGA, especially if they make an accelerated catch-up growth in early life, carry a higher risk for long-term metabolic consequences, such as type 2 diabetes, insulin resistance, and cardiovascular diseases. Furthermore, multiple studies support that these children, either born SGA or with a history of PA, may have earlier pubertal timing, which is also associated with various metabolic risks. This review aims to summarize the recent studies investigating the association between early infantile growth, the timing of puberty, and metabolic risks to expand our knowledge and gain more insight into the underlying pathophysiology.
Topics: Infant, Newborn; Female; Humans; Child; Diabetes Mellitus, Type 2; Puberty; Infant, Small for Gestational Age; Fetal Growth Retardation; Metabolic Syndrome
PubMed: 37029976
DOI: 10.1210/clinem/dgad202 -
2022 Clinical practice guidelines for central precocious puberty of Korean children and adolescents.Annals of Pediatric Endocrinology &... Sep 2023The Committee of Central Precocious Puberty of Korean Pediatrics and Adolescents of the Korean Society of Pediatric Endocrinology has newly developed evidence-based 2022...
The Committee of Central Precocious Puberty of Korean Pediatrics and Adolescents of the Korean Society of Pediatric Endocrinology has newly developed evidence-based 2022 clinical practice guidelines for central precocious puberty in Korean children and adolescents. These guidelines provide the grade of recommendations, which includes both the strength of recommendations and the level of evidence. In the absence of sufficient evidence, recommendations are based on expert opinion. These guidelines have been revised and supplement the previous guidelines "Clinical Guidelines for Precocious Puberty 2011," and are drawn from a comprehensive review of the latest domestic and international research and the grade of recommendation appropriate to the domestic situation. This review summarizes the newly revised guidelines into 8 key questions and 27 recommendations and consists of 4 sections: screening, diagnosis, treatment, and long-term outcome of central precocious puberty.
PubMed: 37798893
DOI: 10.6065/apem.2346168.084 -
The Lancet. Diabetes & Endocrinology Aug 2023Identification of genetic causes of central precocious puberty have revealed epigenetic mechanisms as regulators of human pubertal timing. MECP2, an X-linked gene,...
BACKGROUND
Identification of genetic causes of central precocious puberty have revealed epigenetic mechanisms as regulators of human pubertal timing. MECP2, an X-linked gene, encodes a chromatin-associated protein with a role in gene transcription. MECP2 loss-of-function mutations usually cause Rett syndrome, a severe neurodevelopmental disorder. Early pubertal development has been shown in several patients with Rett syndrome. The aim of this study was to explore whether MECP2 variants are associated with an idiopathic central precocious puberty phenotype.
METHODS
In this translational cohort study, participants were recruited from seven tertiary centres from five countries (Brazil, Spain, France, the USA, and the UK). Patients with idiopathic central precocious puberty were investigated for rare potentially damaging variants in the MECP2 gene, to assess whether MECP2 might contribute to the cause of central precocious puberty. Inclusion criteria were the development of progressive pubertal signs (Tanner stage 2) before the age of 8 years in girls and 9 years in boys and basal or GnRH-stimulated LH pubertal concentrations. Exclusion criteria were the diagnosis of peripheral precocious puberty and the presence of any recognised cause of central precocious puberty (CNS lesions, known monogenic causes, genetic syndromes, or early exposure to sex steroids). All patients included were followed up at the outpatient clinics of participating academic centres. We used high-throughput sequencing in 133 patients and Sanger sequencing of MECP2 in an additional 271 patients. Hypothalamic expression of Mecp2 and colocalisation with GnRH neurons were determined in mice to show expression of Mecp2 in key nuclei related to pubertal timing regulation.
FINDINGS
Between Jun 15, 2020, and Jun 15, 2022, 404 patients with idiopathic central precocious puberty (383 [95%] girls and 21 [5%] boys; 261 [65%] sporadic cases and 143 [35%] familial cases from 134 unrelated families) were enrolled and assessed. We identified three rare heterozygous likely damaging coding variants in MECP2 in five girls: a de novo missense variant (Arg97Cys) in two monozygotic twin sisters with central precocious puberty and microcephaly; a de novo missense variant (Ser176Arg) in one girl with sporadic central precocious puberty, obesity, and autism; and an insertion (Ala6_Ala8dup) in two unrelated girls with sporadic central precocious puberty. Additionally, we identified one rare heterozygous 3'UTR MECP2 insertion (36_37insT) in two unrelated girls with sporadic central precocious puberty. None of them manifested Rett syndrome. Mecp2 protein colocalised with GnRH expression in hypothalamic nuclei responsible for GnRH regulation in mice.
INTERPRETATION
We identified rare MECP2 variants in girls with central precocious puberty, with or without mild neurodevelopmental abnormalities. MECP2 might have a role in the hypothalamic control of human pubertal timing, adding to the evidence of involvement of epigenetic and genetic mechanisms in this crucial biological process.
FUNDING
Fundação de Amparo à Pesquisa do Estado de São Paulo, Conselho Nacional de Desenvolvimento Científico e Tecnológico, and the Wellcome Trust.
Topics: Animals; Child; Female; Humans; Male; Mice; Brazil; Cohort Studies; Follicle Stimulating Hormone; Gonadotropin-Releasing Hormone; Luteinizing Hormone; Puberty, Precocious; Rett Syndrome
PubMed: 37385287
DOI: 10.1016/S2213-8587(23)00131-6 -
Acta Bio-medica : Atenei Parmensis Dec 2023The relationship between precocious or early puberty and its treatment has received significant research attention, yielding diverse outcomes. This short review aims to...
BACKGROUND
The relationship between precocious or early puberty and its treatment has received significant research attention, yielding diverse outcomes. This short review aims to comprehensively analyze and summarize research articles to elucidate the potential link between precocious or early pubertal onset (CPP) and crucial health factors.
METHODS
We conducted a systematic review of studies published from -January 2000 to March 2023, sourced from databases of Medline, PubMed, Google Scholar and Web of Science. We assessed the relationship between CPP and final adult height (FHt), bone health, reproductive function, body mass index, metabolic and cardiovascular abnormalities, and increased cancer risk.
RESULTS
Upon reviewing and analyzing selected studies, the following key findings emerged: (a) treating CPP in girls before age 6-7 and in boys before age 9 improves FHt; (b) bone mineral density (BMD) decreases during GnRHa treatment but normalizes afterward, with no lasting effects on peak bone mass during puberty; (c) GnRH treatment does not negatively affect menstrual cycles; however, untreated CPP increases the risk of premature or early-onset menopause; (d) the incidence of PCOS/hyperandrogenemia may be slightly elevated in women with a history of CPP, but overall reproductive function remains largely unaffected; (e) earlier thelarche and menarche may enhance susceptibility to breast carcinogenesis; (f) CPP contributes to an increased risk of obesity and type 2 diabetes in both genders; (g) early menarche may slightly increase the risk of coronary heart disease and ischemic strokes and (h) early pubertal timing increases the risk of depression and anxiety disorders.
CONCLUSION
Monitoring and early diagnosis of these conditions are of paramount importance for successful management.
Topics: Female; Humans; Male; Child; Diabetes Mellitus, Type 2; Gonadotropin-Releasing Hormone; Puberty, Precocious; Obesity; Puberty
PubMed: 38054666
DOI: 10.23750/abm.v94i6.15316 -
BMC Endocrine Disorders Oct 2023Many studies have investigated the impact of precocious puberty on cardiovascular disease (CVD) outcomes and the association between lipid profile levels and precocious... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
Many studies have investigated the impact of precocious puberty on cardiovascular disease (CVD) outcomes and the association between lipid profile levels and precocious puberty. However, the results have been inconsistent. The aim of this meta-analysis was to evaluate whether triglyceride (TG), total cholesterol (TC), high density lipoprotein (HDL)and low density lipoprotein (LDL) levels were altered in girls with precocious puberty compared with healthy controls.
METHODS
References published before June 2022 in the EMBASE, Cochrane Library, PubMed and Web of Science databases were searched to identify eligible studies. A DerSimonian-Laird random-effects model was used to evaluate the overall standard mean difference (SMD) between precocious puberty and healthy controls. Subgroup analyses and sensitivity analyses were preformed, and publication bias was assessed.
RESULTS
A total of 14 studies featuring 1023 girls with precocious puberty and 806 healthy girls were selected for analysis. The meta-analysis showed that TG (SMD: 0.28; 95% CI: 0.01 to 0.55; P = 0.04), TC (SMD: 0.30; 95% CI: 0.01 to 0.59; P = 0.04), LDL (SMD: 0.45; 95% CI: 0.07 to 0.84; P = 0.02)levels were significantly elevated in girls with precocious puberty. HDL levels did not change significantly (SMD: -0.06; 95% CI: -0.12 to 0.61; P = 0.62). Subgroup analyses revealed that the heterogeneity in the association between lipid profile and precocious puberty in this meta-analysis may arise from disease type, region, sample size, chronological age, body mass index difference and drug usage.
CONCLUSION
Lipid profile levels altered in girls with precocious puberty compared with healthy controls. In order to minimize the risk of CVD morbidity and mortality, early interventions were needed to prevent obesity in children and adolescents, especially those with precocious puberty.
Topics: Female; Child; Adolescent; Humans; Lipids; Pediatric Obesity; Puberty, Precocious; Cholesterol, HDL; Cholesterol, LDL; Triglycerides; Cardiovascular Diseases
PubMed: 37848909
DOI: 10.1186/s12902-023-01470-8 -
Frontiers in Endocrinology 2023Delayed puberty (DP) is a frequent concern for adolescents. The most common underlying aetiology is self-limited DP (SLDP). However, this can be difficult to...
INTRODUCTION
Delayed puberty (DP) is a frequent concern for adolescents. The most common underlying aetiology is self-limited DP (SLDP). However, this can be difficult to differentiate from the more severe condition congenital hypogonadotrophic hypogonadism (HH), especially on first presentation of an adolescent patient with DP. This study sought to elucidate phenotypic differences between the two diagnoses, in order to optimise patient management and pubertal development.
METHODS
This was a study of a UK DP cohort managed 2015-2023, identified through the NIHR clinical research network. Patients were followed longitudinally until adulthood, with a definite diagnosis made: SLDP if they had spontaneously completed puberty by age 18 years; HH if they had not commenced (complete, cHH), or had commenced but not completed puberty (partial, pHH), by this stage. Phenotypic data pertaining to auxology, Tanner staging, biochemistry, bone age and hormonal treatment at presentation and during puberty were retrospectively analysed.
RESULTS
78 patients were included. 52 (66.7%) patients had SLDP and 26 (33.3%) patients had HH, comprising 17 (65.4%) pHH and 9 (34.6%) cHH patients. Probands were predominantly male (90.4%). Male SLDP patients presented with significantly lower height and weight standard deviation scores than HH patients (height p=0.004, weight p=0.021). 15.4% of SLDP compared to 38.5% of HH patients had classical associated features of HH (micropenis, cryptorchidism, anosmia, etc. p=0.023). 73.1% of patients with SLDP and 43.3% with HH had a family history of DP (p=0.007). Mean first recorded luteinizing hormone (LH) and inhibin B were lower in male patients with HH, particularly in cHH patients, but not discriminatory. There were no significant differences identified in blood concentrations of FSH, testosterone or AMH at presentation, or in bone age delay.
DISCUSSION
Key clinical markers of auxology, associated signs including micropenis, and serum inhibin B may help distinguish between SLDP and HH in patients presenting with pubertal delay, and can be incorporated into clinical assessment to improve diagnostic accuracy for adolescents. However, the distinction between HH, particularly partial HH, and SLDP remains problematic. Further research into an integrated framework or scoring system would be useful in aiding clinician decision-making and optimization of treatment. .
Topics: Adolescent; Humans; Male; Adult; Female; Puberty, Delayed; Retrospective Studies; Testosterone; Hypogonadism
PubMed: 37701896
DOI: 10.3389/fendo.2023.1226839 -
FP Essentials Aug 2023Approximately 0.6% of adults (1 to 1.4 million adults) in the United States identify as transgender, and 2% of high school-aged individuals (150,000 to 300,000...
Approximately 0.6% of adults (1 to 1.4 million adults) in the United States identify as transgender, and 2% of high school-aged individuals (150,000 to 300,000 individuals). Gender-affirming care for transgender and gender- diverse patients can include support with social transition or physical presentation, legal steps, and medical treatments (eg, hormone therapy) and surgeries. Adolescent and adult patients who request gender-affirming hormone therapy must meet several criteria. One is confirmed persistence of gender dysphoria or gender incongruence. Also, the patient must have reached the age of legal medical consent and be able to consent to therapy. For adolescent patients who are minors, meeting of additional criteria is recommended. In eligible adolescent patients, gender-affirming hormone therapy consists of two phases, pubertal suppression and then feminizing or masculinizing hormone therapy. Before puberty, hormone therapy is not recommended. When puberty begins, patients can receive a gonadotropin-releasing hormone agonist to suppress puberty (ie, puberty blocker). Feminizing or masculinizing hormone therapy, which usually is initiated at age 16 years, consists of estradiol or testosterone, respectively. For adult patients requesting gender-affirming hormone therapy, a thorough evaluation should be performed to assess for contraindications and conditions that may increase therapy-associated risks. Feminizing hormone therapy includes estrogen and an antiandrogen, and masculinizing therapy consists of testosterone. These patients should undergo regular monitoring. Cancer screening is based on risk factors, organ inventory, and screening guidelines.
Topics: Adolescent; Adult; Humans; Child; Testosterone; Physical Examination; Risk Factors; Schools
PubMed: 37603883
DOI: No ID Found -
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