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Pediatric Annals Jan 2023
Topics: Rats; Humans; Animals; Puberty, Precocious; Endocrinologists; Screen Time; Gonadotropin-Releasing Hormone
PubMed: 36625799
DOI: 10.3928/19382359-20221206-01 -
Endocrine Development 2016Precocious puberty has been classically defined as the onset of sexual secondary characteristics in girls younger than 8 years and in boys younger than 9 years. The... (Review)
Review
Precocious puberty has been classically defined as the onset of sexual secondary characteristics in girls younger than 8 years and in boys younger than 9 years. The discovery of potential factors which trigger human puberty is one of the central mysteries of reproductive biology. Several approaches, including mutational analysis of candidate genes, large-scale genome-wide association studies, and (more recently) whole-exome sequencing, have been performed in attempt to identify novel genetic factors that modulate the human hypothalamic-pituitary-gonadal axis, resulting in premature sexual development. In the last two decades, it has been well established that autonomous gonadal activation can be caused by somatic (GNAS) or germline (LHCGR)-activating mutations of genes that encode essential elements for signal transduction of G protein-coupled receptors, resulting in peripheral precocious puberty in McCune-Albright syndrome and testotoxicosis, respectively. More recently, dominant activating and inactivating mutations of excitatory (KISS1/KISS1R) and inhibitory (MKRN3) modulators of gonadotropin-releasing hormone secretion, respectively, were associated with central precocious puberty phenotype. Indeed, loss-of-function mutations of MKRN3, a maternal imprinted gene located at chromosome 15q, currently represent a frequent cause of central precocious puberty diagnosed in families from distinct geographic origins. Here, we review the known genetic defects in central and peripheral precocious puberty.
Topics: Adolescent; Child; Female; Gonads; Humans; Male; Puberty, Precocious
PubMed: 26680572
DOI: 10.1159/000438874 -
Problemy Endokrinologii Sep 2021The precocious puberty is an urgent problem of pediatric endocrinology characterized by clinical and pathogenetic heterogeneity. The appearance of secondary sex...
The precocious puberty is an urgent problem of pediatric endocrinology characterized by clinical and pathogenetic heterogeneity. The appearance of secondary sex characteristics before the age of 8 years in girls and 9 years in boys requires timely diagnosis and the appointment of pathogenetically justified treatment in order to achieve the target indicators of final growth and prevent social deprivation. The developed clinical guidelines are the main working tool of the practitioner. They briefly and structurally present the main information about the epidemiology and modern classification of рrecocious puberty, methods of its diagnosis and treatment based on the principles of evidence-based medicine.
Topics: Child; Female; Humans; Male; Puberty; Puberty, Precocious
PubMed: 34766494
DOI: 10.14341/probl12821 -
Endocrinology and Metabolism Clinics of... Jun 2024Peripheral precocious puberty (PPP) refers to the early onset of sexual maturation that is independent of central nervous system control. The extensive differential... (Review)
Review
Peripheral precocious puberty (PPP) refers to the early onset of sexual maturation that is independent of central nervous system control. The extensive differential diagnosis includes congenital and acquired causes. Presenting features depend on which class of sex steroids is involved, and diagnosis rests on hormonal and, if indicated, imaging and/or genetic studies. Effective treatment exists for nearly all causes of PPP. Ongoing research will advance our therapeutic armamentarium and understanding of the pathophysiologic basis of these conditions.
Topics: Humans; Puberty, Precocious; Child; Female
PubMed: 38677868
DOI: 10.1016/j.ecl.2024.01.006 -
Environmental Research Sep 2022Foods and water can be contaminated with antibiotics in China, which may affect children's health, but evidence on antibiotic exposure with precocious puberty (PP) is...
Foods and water can be contaminated with antibiotics in China, which may affect children's health, but evidence on antibiotic exposure with precocious puberty (PP) is limited. This study explored the association of antibiotic exposure with PP in a school-based setting. A cross-sectional study with multistage stratified cluster random sampling was conducted in Zhongshan City, Guangdong Province and Qufu City, Shandong Province in China from October 11 to December 5, 2019. A first-morning urine sample was collected to detect antibiotic exposure. We detected 33 of 45 types of antibiotics from eight categories in 928 primary school children aged 6-12 years using HPLS-MS/MS. Detection rate of antibiotics was stratified by sex, study site, and BMI. The Tanner stages were assessed by professional pediatricians from local hospitals. PP is defined as the onset of secondary characters before 8-year-old or menarche before 10-year-old for girls and before 9-year-old for boys. Multivariable logistic regression was performed to examine the association between antibiotic exposure and PP after adjusting potential confounders. The overall detection rate of antibiotics was 93.0% in 928 children. We found the detection rate of tetracyclines and fluoroquinolones in children with PP was significantly higher than that of children with normal puberty (41.4% vs 29.9%, 56.8% vs 50.6%, respectively, all p < 0.05). Both fluoroquinolones (odds ratio (OR): 1.835, 95% confidence interval (CI): 1.066-3.158) and tetracyclines (OR: 2.120, 95% CI: 1.175-3.825) were associated with increased OR of PP after adjusting sex, age, BMI, study site, and family income. Specifically, compared to the values less than the limits of detection, low concentration of ofloxacin from fluoroquinolones (OR: 2.056, 95% CI: 1.091-3.875) and high concentration of chlortetracycline (OR: 3.027, 95% CI: 1.126-8.140) and tetracycline from tetracyclines (OR: 2.756, 95% CI: 1.167-6.506) were associated with increased OR of PP. Exposure to antibiotics, especially fluoroquinolones and tetracyclines was positively associated with precocious puberty.
Topics: Anti-Bacterial Agents; Child; China; Cross-Sectional Studies; Female; Fluoroquinolones; Humans; Male; Puberty; Puberty, Precocious; Schools; Tandem Mass Spectrometry; Tetracyclines
PubMed: 35490828
DOI: 10.1016/j.envres.2022.113365 -
BMC Pediatrics Sep 2023The purpose of this study is to explore the related factors of precocious puberty in children.
BACKGROUND
The purpose of this study is to explore the related factors of precocious puberty in children.
METHODS
1239 children who underwent physical examination in our hospital from January 2020 to December 2022 were analyzed, including 198 precocious children and 1041 normal children. According to the age of 198 precocious children and 1041 normal children, 205 normal children were selected, and the remaining 836 normal children were excluded. They were divided into precocious group and normal group. The general data of the two groups were recorded. Logistic regression was used to analyze the influencing factors of precocious puberty in children.
RESULTS
There were statistically significant differences (P < 0.05) between the two groups in sex, bone age, daily exercise time, E2, FSH, LH, leptin, mother's menarche time, living environment, consumption of nutritional supplements, consumption of foods containing pigments and preservatives, consumption of high-protein foods, and sleeping time. The multifactor logistic regression analysis shows that the risk factors of children's precocious puberty included gender (female), bone age (> 10 years old), and daily exercise time (< 0.9 h), E2 (≥ 66.00pmol/L), FSH (≥ 6.00U/L), LH (≥ 3.50U/L), leptin (≥ 8.00 µ G/L), mother's menarche time (< 12 years old), living environment (chemical industry zone), consumption of nutritional supplements (often), consumption of high-protein food (often), and sleep time (< 10 h).
CONCLUSION
In conclusion, children's gender, bone age, exercise habits, E2, FSH, LH, leptin, mother's menarche time, living environment, eating habits, sleep time and other factors are closely related to precocious puberty in children. Reminding parents to actively prevent related factors in clinical work is helpful to prevent the occurrence of precocious puberty in children.
Topics: Humans; Child; Female; Leptin; Puberty, Precocious; Risk Factors; Dietary Supplements; Follicle Stimulating Hormone
PubMed: 37697362
DOI: 10.1186/s12887-023-04265-x -
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 -
Endocrinology and Metabolism Clinics of... Jun 2024Premature pubarche (PP) is a common and usually benign variant of normal puberty most often seen in 5-year-old to 9-year-old children. Some providers routinely order... (Review)
Review
Premature pubarche (PP) is a common and usually benign variant of normal puberty most often seen in 5-year-old to 9-year-old children. Some providers routinely order laboratory testing and a bone age to try to rule out other diagnoses including nonclassic congenital adrenal hyperplasia and gonadal or adrenal tumors. I review the natural history of PP and studies which suggest that without clinical features such as rapid growth and progression or genital enlargement, it is unlikely that a treatable condition will be found. Therefore it is recommended that patients with PP not undergo testing unless there are red flags at the time of the initial visit.
Topics: Humans; Puberty, Precocious; Child; Female; Child, Preschool
PubMed: 38677863
DOI: 10.1016/j.ecl.2024.02.001 -
Journal of Endocrinological... Aug 2017Puberty is a major developmental stage. Damaging mutations, considered as "mistakes of nature", have contributed to the unraveling of the networks implicated in the... (Review)
Review
Puberty is a major developmental stage. Damaging mutations, considered as "mistakes of nature", have contributed to the unraveling of the networks implicated in the normal initiation of puberty. Genes involved in the abnormal hypothalamic-pituitary-gonadal (HPG) axis development, in the normosmic idiopathic hypogonadotropic hypogonadism (nIHH), in the X-linked or autosomal forms of Kallmann syndrome and in precocious puberty have been identified (GNRH1, GNRHR, KISS1, GPR54, FGFR1, FGF8, PROK2, PROKR2, TAC3, TACR3, KAL1, PROK2, PROKR2, CHD7, LEP, LEPR, PC1, DAX1, SF-1, HESX-1, LHX3, PROP-1). Most of them were found to play critical roles in HPG axis development and regulation, the embryonic GnRH neuronal migration and secretion, the regulation and action of the hypothalamic GnRH. However, the specific neural and molecular mechanisms triggering GnRH secretion remain one of the scientific enigmas. Although GnRH neurons are probably capable of autonomously generating oscillations, many gonadal steroid-dependent and -independent mechanisms have also been proposed. It is now well proven that the secretion of GnRH is regulated by kisspeptin as well as by permissive or opposing signals mediated by neurokinin B and dynorphin. These three supra-GnRH regulators compose the kisspeptin-neurokinin B-dynorphin neuronal (KNDy) system, a key player in pubertal onset and progression. Moreover, an ongoing increasing number of inhibitory, stimulatory and permissive networks acting upstream on GnRH neurons, such as GABA, NPY, LIN28B, MKRN3 and others integrate diverse hormonal and peripheral signals and have been proposed as the "gate-keepers" of puberty, while epigenetic modifications play also an important role in puberty initiation.
Topics: Epigenesis, Genetic; Humans; Puberty, Precocious
PubMed: 28251550
DOI: 10.1007/s40618-017-0627-9 -
Frontiers in Endocrinology 2023Prader-Willi syndrome (PWS, OMIM176270) is a rare genetic disorder with recognizable dysmorphic features and multisystemic consequences such as endocrine, neurocognitive... (Review)
Review
Prader-Willi syndrome (PWS, OMIM176270) is a rare genetic disorder with recognizable dysmorphic features and multisystemic consequences such as endocrine, neurocognitive and metabolic ones. Although most patients with Prader-Willi syndrome exhibit hypogonadotropic hypogonadism, there is variability regarding sexual maturation, with precocious puberty occurring in rare cases. Our aim is to elaborate a thorough review of Prader-Willi patients with central precocious puberty, in order to raise awareness of such cases and to enhance our knowledge regarding the diagnosis and prompt treatment of this particular PWS patients.
Topics: Humans; Prader-Willi Syndrome; Puberty, Precocious; Sexual Maturation; Hypogonadism; Knowledge
PubMed: 37251677
DOI: 10.3389/fendo.2023.1150323