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Frontiers in Endocrinology 2024Precocious puberty (PP) is a prevalent endocrine disorder affecting the physical and mental wellbeing of children. Identifying the triggering factors of PP has become a...
OBJECTIVE
Precocious puberty (PP) is a prevalent endocrine disorder affecting the physical and mental wellbeing of children. Identifying the triggering factors of PP has become a central issue. This study seeks to investigate the metabolomic and transcriptomic alterations in PP.
MATERIAL AND METHODS
First, 37 school-aged girls diagnosed with PP and 25 age-matched prepubertal control girls were recruited, and the fecal samples were collected for non-targeted metabolomic analysis to screen for differentially expressed metabolites (DEMs). Subsequently, an animal model of PP was constructed by danazol administration to neonatal female rats, and both fecal non-targeted metabolomics and serum next-generation transcriptomic sequencing were performed to screen DEMs and differentially expressed genes (DEGs) in PP. Moreover, the DEM co-existing in clinical and animal models was administrated to PP rats to explore the role of the target metabolite in PP.
RESULTS
A total of 24 DEMs in PP clinical samples and 180 DEMs and 425 DEGs in PP animal samples were identified. The Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis showed that these DEMs and DEGs were enriched in disease-associated pathways, including fatty acid synthesis, glycerolipid metabolism, pyrimidine metabolism, steroid hormone biosynthesis, progesterone-mediated oocyte maturation, and gonadotropin-releasing hormone (GnRH) signaling pathway, forming a tight DEM-DEG pathway regulatory network. Further DEM validation demonstrated that thymine supplementation delayed the opening of the vagina and development of PP in model rats.
CONCLUSION
This study reveals that the metabolomic and transcriptomic changes, along with enriched pathways, are implicated in PP based on clinical and animal analyses. The findings may provide new strategies and research avenues for PP treatment.
Topics: Humans; Child; Female; Rats; Animals; Puberty, Precocious; Gonadotropin-Releasing Hormone; Multiomics
PubMed: 38487340
DOI: 10.3389/fendo.2024.1285666 -
Cureus Feb 2024Hemispherectomy is a neurosurgical procedure that is frequently performed in pediatric patients diagnosed with Rasmussen's encephalitis. Postoperative complications...
Hemispherectomy is a neurosurgical procedure that is frequently performed in pediatric patients diagnosed with Rasmussen's encephalitis. Postoperative complications include immediate complications such as hydrocephalus and hemorrhage and behavioral complications such as language impairments and contralateral weakness. However, there are limited studies or case reports that address the potential endocrinopathies associated with this and other pediatric epileptic surgeries. This case report describes the endocrinopathies following an anatomical hemispherectomy procedure. A four-year-old African-American female had a right anatomical hemispherectomy for the treatment of Rasmussen's encephalitis in 2020. The postoperative course was immediately complicated by central diabetes insipidus which was stabilized with desmopressin. The patient's labs in 2021 were consistent with central precocious puberty with elevated luteinizing hormone (LH) and follicle-stimulating hormone (FSH). Additionally, the patient was found to have secondary adrenal insufficiency in which she failed a low-dose adrenocorticotropic hormone (ACTH) stimulation test. Oral hydrocortisone therapy was initiated for secondary adrenal insufficiency in addition to initiating leuprolide injections for central precocious puberty. Furthermore, at the age of seven years, the patient had her first menarche. This case report emphasizes the need for closer and long-term surveillance for endocrine issues in postepileptic surgical pediatric patients as well as a surveillance plan for the development of other potential endocrine abnormalities throughout the patient's life.
PubMed: 38465024
DOI: 10.7759/cureus.53894 -
Annals of Pediatric Endocrinology &... Feb 2024Familial male-limited precocious puberty (FMPP) is a rare form of gonadotropin-independent precocious puberty that is caused by an activating mutation of the LHCGR gene....
Familial male-limited precocious puberty (FMPP) is a rare form of gonadotropin-independent precocious puberty that is caused by an activating mutation of the LHCGR gene. Herein, we report a case of FMPP with a mutation of the LHCGR gene in a Korean boy with familial history of precocious puberty through 3 generations. A 16-month-old boy presented with signs of precocious puberty, including pubic hair, acne, and increased growth velocity. The patient's grandfather and father had a history of precocious puberty and profound short stature. On physical examination, the patient had prepubertal testes with pubic hair development appropriate for Tanner stage II. The stretched penile length was 7 cm (>2 standard deviation score), and observed bone age was that of a 4-year-old boy. Laboratory findings showed high serum testosterone (5.74 ng/mL [appropriate for Tanner IV-V]; normal range, <0.05 ng/mL) with suppressed luteinizing hormone (<0.07 mIU/mL) and normal serum level of follicular stimulating hormone (0.56 mIU/mL; normal range, 0.38-1.11 mIU/mL). Genetic testing revealed a pathogenic variant of LHCGR (c.1730 C>T (p.Thr577Ileu)), confirming FMPP. Bicalutamide and anastrozole were administered, and pubertal progression was sufficiently suppressed without any specific side effects. To our knowledge, this is the first case of genetically confirmed FMPP in Korea.
PubMed: 38461807
DOI: 10.6065/apem.2346042.021 -
BMC Public Health Mar 2024Ambient air pollutants have been suggested to affect pubertal development. Nevertheless, current studies indicate inconsistent effects of these pollutants, causing...
BACKGROUND
Ambient air pollutants have been suggested to affect pubertal development. Nevertheless, current studies indicate inconsistent effects of these pollutants, causing precocious or delayed puberty onset. This study aimed to explore the associations between long-term exposure to particulate matter with aerodynamic diameters ≤ 2.5 μm (PM) along with its components and menarche timing among Chinese girls.
METHOD
Self-reported age at menarche was collected among 855 girls from China Health and Nutrition Survey 2004 to 2015. The pre-menarche annual average concentrations of PM and its components were calculated on the basis of a long-term (2000-2014) high-resolution PM components dataset. Generalized linear models (GLM) and logistic regression models were used to analyze the associations of exposure to a single pollutant (PM, sulfate, nitrate, ammonium, black carbon and organic matter) with age at menarche and early menarche (< 12 years), respectively. Weighted quantile sum methods were applied to examine the impacts of joint exposure on menarche timing.
RESULTS
In the adjusted GLM, per 1 µg/m increase of annual average concentrations of nitrate and ammonium decreased age at menarche by 0.098 years and 0.127 years, respectively (all P < 0.05). Every 1 µg/m increase of annual average concentrations of PM (OR: 1.04, 95% CI: 1.00-1.08), sulfate (OR: 1.23, 95% CI: 1.01-1.50), nitrate (OR: 1.23, 95% CI: 1.06-1.43) and ammonium (OR: 1.32, 95% CI: 1.06-1.66) were significantly positively associated with early menarche. Higher level of joint exposure to PM and its components was associated with 11% higher odds of early menarche (P = 0.04). Additionally, the estimated weight of sulfate was the largest among the mixed pollutants.
CONCLUSIONS
Long-term exposure to PM and its components could increase the risk of early menarche among Chinese girls. Moreover, sulfate might be the most critical components responsible for this relationship. Our study provides foundation for targeted prevention of PM components.
Topics: Female; Humans; Adolescent; Menarche; Nitrates; China; Environmental Pollutants; Particulate Matter; Sulfates; Ammonium Compounds
PubMed: 38443853
DOI: 10.1186/s12889-024-18209-2 -
Frontiers in Endocrinology 2024Pineal cysts have long been considered a benign intracranial variation. However, in our clinical practice, it has been observed that some children with central...
INTRODUCTION
Pineal cysts have long been considered a benign intracranial variation. However, in our clinical practice, it has been observed that some children with central precocious puberty (CPP) who have pineal cysts experience rapid progression in adolescent development. In recent years, there has been a significant increase in the prevalence of CPP in girls, leading to more diagnoses of CPP among children with pineal cysts. Despite this, there is no consensus regarding whether pineal cysts contribute to CPP as one of its organic factors. This study aimed to analyze the clinical characteristics of pineal cysts in children with CPP and explore the potential effects of pineal cysts on puberty development.
METHODS
This single-center study retrospectively analyzed clinical data from girls aged 3 to 10 years who underwent head/pituitary magnetic resonance imaging at the Children's Hospital Affiliated to Zhengzhou University between 2019 and 2022. The study categorized the detection rates of pineal cysts based on systematic disease classification and compared the rates of cyst detection between girls diagnosed with CPP and those without CPP. Subsequently, CPP-diagnosed girls with pineal cysts were examined. Among CPP-diagnosed girls meeting the study's criteria, those with pineal cysts formed the 'cyst group,' while those without cysts were matched in a 1:1 ratio based on age and body mass index to form the 'non-cyst group.' Comparative analyses were conducted to assess the clinical characteristics between these two groups. CPP-diagnosed girls with cysts were further subdivided into three groups according to cyst size (≤5 mm, 5.1-9.9 mm, and ≥10 mm) to investigate potential differences in clinical characteristics among these subgroups. The study involved an analysis of clinical data from girls diagnosed with CPP and included imaging follow-ups to explore the progression of pineal cysts over time.
RESULTS
Among the 23,245 girls who underwent head/pituitary magnetic resonance imaging scans, the detection rate of pineal cysts was 3.6% (837/23,245), with most cases being associated with endocrine diseases. The detection rate of pineal cysts in CPP patients was 6.4% (262/4099), which was significantly higher than the 3.0% (575/19,146) in patients without CPP. In comparison to the non-cyst group, the cyst group exhibited statistically significant increases in estradiol levels, peak luteinizing hormone (LH) levels, peak LH/follicle-stimulating hormone (FSH) ratios, uterine body length, and cervix length (P < 0.001). As cyst size increased, there were significant rises in LH peak, peak LH/FSH ratio, uterine body length, and cervical length (P < 0.01). Estradiol levels and left ovarian volume also showed an increasing trend (P < 0.05). Among girls who underwent follow-up imaging, 26.3% (5/19) exhibited an increase in cyst size.
CONCLUSION
Pineal cysts are relatively common in children with CPP. They may affect the pubertal development process, with larger cysts correlating to faster pubertal development. Therefore, the authors hypothesize that pineal cysts may trigger CPP in some cases, especially when the cysts are larger than 5 mm in size, as indicated by our data.
Topics: Child; Female; Humans; Adolescent; Luteinizing Hormone; Puberty, Precocious; Retrospective Studies; Follicle Stimulating Hormone; Cysts; Follicle Stimulating Hormone, Human; Central Nervous System Cysts; Estradiol
PubMed: 38405141
DOI: 10.3389/fendo.2024.1323947 -
Microorganisms Feb 2024The gut microbiota has been implicated in the context of sexual maturation during puberty, with discernible differences in its composition before and after this critical... (Review)
Review
The gut microbiota has been implicated in the context of sexual maturation during puberty, with discernible differences in its composition before and after this critical developmental stage. Notably, there has been a global rise in the prevalence of precocious puberty in recent years, particularly among girls, where approximately 90% of central precocious puberty cases lack a clearly identifiable cause. While a link between precocious puberty and the gut microbiota has been observed, the precise causality and underlying mechanisms remain elusive. This narrative review aims to systematically elucidate the potential mechanisms that underlie the intricate relationship between the gut microbiota and precocious puberty. Potential avenues of exploration include investigating the impact of the gut microbiota on endocrine function, particularly in the regulation of hormones, such as gonadotropin-releasing hormone (GnRH), luteinizing hormone (LH), and follicle-stimulating hormone (FSH). Additionally, this review will delve into the intricate interplay between the gut microbiome, metabolism, and obesity, considering the known association between obesity and precocious puberty. This review will also explore how the microbiome's involvement in nutrient metabolism could impact precocious puberty. Finally, attention is given to the microbiota's ability to produce neurotransmitters and neuroactive compounds, potentially influencing the central nervous system components involved in regulating puberty. By exploring these mechanisms, this narrative review seeks to identify unexplored targets and emerging directions in understanding the role of the gut microbiome in relation to precocious puberty. The ultimate goal is to provide valuable insights for the development of non-invasive diagnostic methods and innovative therapeutic strategies for precocious puberty in the future, such as specific probiotic therapy.
PubMed: 38399733
DOI: 10.3390/microorganisms12020323 -
Children (Basel, Switzerland) Jan 2024In this extensive study examining the health of 7184 school children aged 3 to 12 in 27 Lebanese schools, screenings involved medical evaluation and interviews,...
In this extensive study examining the health of 7184 school children aged 3 to 12 in 27 Lebanese schools, screenings involved medical evaluation and interviews, complemented by phone interviews with 3880 parents. Notably, one in two students received a medical referral, revealing prevalent issues such as dental cavities (33%), under-vaccination (25%), undetected vision problems (13%), abnormal growth (6%), underweight (27%), and overweight (33%). Additional concerns encompassed abnormal vital signs (3%), abuse signs (0.6%), infectious skin lesions (1.6%), scoliosis (1.7%), abnormal auscultation (heart 1.1%, lungs 1.2%), ear problems (3.3%), precocious puberty (0.7%), and neurologic signs (0.6%). Mental health challenges affected 20-25% of students. Public schools and Beirut exhibited higher referral rates, with girls, older children, overweight students, those lacking regular pediatrician visits, and children of self-employed or less educated parents facing elevated referral rates. In contrast, children of healthcare workers experienced fewer referrals. Against this backdrop, the study emphasizes the imperative for targeted health initiatives, particularly in marginalized areas and for socioeconomically disadvantaged students. Priority areas include dental care, weight issues, mental health, vaccination compliance, and addressing vision problems to enhance learning outcomes.
PubMed: 38397287
DOI: 10.3390/children11020175 -
International Journal of Surgery Case... Mar 2024Intracranial glioependymal cysts are an uncommon type of neuroepithelial cyst and are encountered much less frequently than arachnoid cysts. These cysts primarily...
INTRODUCTION AND IMPORTANCE
Intracranial glioependymal cysts are an uncommon type of neuroepithelial cyst and are encountered much less frequently than arachnoid cysts. These cysts primarily manifest within the parenchyma of the brain, although exceedingly rare instances have been reported in the lateral ventricles.
CASE PRESENTATION
We present a highly unusual case of a glioependymal cyst in a 7-year-old girl. The glioependymal cyst was located in the midline in the suprasellar region and extended to the upper clivus region. Its only manifestation was precocious puberty. We performed endoscopic fenestration of the cyst, leading to a return of hormonal levels to normal and a slight reduction in cyst size.
CLINICAL DISCUSSION
A comprehensive search of the Medline database revealed only a few documented cases of glioependymal cysts (fewer than 30 cases). Remarkably, the majority (if not all) were located laterally rather than in the midline of the brain. Endoscopic fenestration and biopsy are effective and confirm the diagnosis.
CONCLUSION
This instance of a rare glioependymal cyst located in the midline, spanning the suprasellar and retrosellar regions, is an uncommon occurrence. Its sole presentation was precocious puberty. The successful management of this condition was achieved through an endoscopic approach, leading to the normalization of endocrine abnormalities.
PubMed: 38387370
DOI: 10.1016/j.ijscr.2024.109360 -
African Health Sciences Sep 2023Several schoolgirls attain reproductive age with undiagnosed gynaecological problems which pose challenges in their livelihood. These conditions include precocious...
BACKGROUND
Several schoolgirls attain reproductive age with undiagnosed gynaecological problems which pose challenges in their livelihood. These conditions include precocious puberty, congenital reproductive tract abnormalities, and delayed sexual development. Many children with these conditions face additional challenges including physical pain, psychological trauma and delayed diagnosis.
METHODS
A 14-year-old girl presented with acute on chronic pelvic pain and haematocolpometra due to imperforate hymen during COVID-19 pandemic. She has not undergone cultural virginity test in her community. The hymenal membrane was unusually non-bulging despite the haematocolpometra. A partial hymenotomy with a narrow margin of excision was performed.
RESULTS
The hymenal orifice later obliterated and resulted in a repeat partial hymenectomy where a wide surgical margin of the hymen was excised.
CONCLUSIONS
A wide rather than narrow partial hymenectomy prevents obliteration of the hymenal orifice after surgery for imperforate hymen. There is a need for timely interventions such as counselling and community awareness that prevent undue consequences of an imperforate hymen and its treatment including pain and possible inability to pass cultural virginity test in some African communities.
Topics: Adolescent; Female; Humans; Congenital Abnormalities; COVID-19; Hymen; Menstruation Disturbances; Pain; Pandemics; Reproductive Health
PubMed: 38357172
DOI: 10.4314/ahs.v23i3.16