Precocious Puberty in Boys: A Study Based on Five Years of Data from a Single Center in Northern China
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ABSTRACT: Objective
To evaluate the clinical features and etiology of precocious puberty (PP) in Chinese boys.Methods
In this study, data from boys who were referred for evaluation of PP from 2015 to 2020 at a tertiary hospital in Northern China were retrospectively analyzed.Results
Eighty-two boys were diagnosed with PP from 2015 to 2020. Sixty-two patients (75.6%) were diagnosed with central PP (CPP), and twenty patients (24.4%) were diagnosed with peripheral PP (PPP). In the CPP group, forty-nine cases were classified as idiopathic CPP, and thirteen patients had pathogenic CPP. The top three causes of PPP were congenital adrenal hyperplasia, germ cell tumors and familial male-limited PP.Conclusion
The etiology of PP in males is diverse. The majority of CPP cases in Chinese boys are idiopathic rather than organic.
SUBMITTER: Ziqin L
PROVIDER: S-EPMC8638629 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:ObjectiveRecent studies in the US and abroad suggest that boys are undergoing puberty at a younger age. It is unknown if this secular trend extends to boys with central precocious puberty (CPP), who sit at the extreme end of the pubertal spectrum, and if neuroimaging should remain a standard diagnostic tool.Study designRetrospective chart review of all boys with CPP seen by Endocrinology at a US pediatric hospital from 2001-2010.ResultsFifty boys had pubertal onset at an average age of 7.31 years (95CI 6.83-7.89), though many did not present until nearly one year thereafter, by which time 30% were mid-to-late pubertal. Boys were predominantly non-Hispanic White and 64% were overweight/obese. The majority (64%) of boys had neurogenic CPP (CNS-CPP) with neurofibromatosis type I being the most common diagnosis. Diagnosis of CPP led to discovery of a neurogenic lesion in only 3 of 32 (9%) CNS-CPP cases. The remaining boys, with idiopathic CPP (36%), were indistinguishable from those with CNS-CPP aside from four boys who endorsed a family history of PP (22% vs. 0% among CNS-CPP cases). Importantly, there was no change in the incidence of male CPP after accounting for the increase in clinic volume during this time period.ConclusionIn this contemporary Boston-based cohort of 50 boys with CPP, most cases were neurogenic, consistent with older literature. Several idiopathic cases had a family history of PP but were otherwise indistinguishable from CNS-CPP cases. Thus, neuroimaging remains a critical diagnostic tool. We find no evidence for an increase in the prevalence of male CPP.
| S-EPMC6021063 | biostudies-literature
Project description:McCune-Albright Syndrome (MAS; OMIM # 174800) is a rare, sporadic disease caused by a post-zygotic, activating mutation in the guanine-nucleotide binding protein α-subunit (GNAS1) gene. MAS is characterized by the clinical triad of polyostotic fibrous dysplasia of bone, café-au-lait skin pigmentation and peripheral precocious puberty. However, clinical presentation is highly variable depending on mosaic tissue distribution of mutant-bearing cells. Precocious puberty is the most common endocrine manifestation of MAS and is often the presenting, and sometimes the only, clinical sign of MAS. Due to the very low prevalence of MAS, data on course of precocious puberty, effectiveness of treatments and gonadal function during post-pubertal period are lacking. Our knowledge on this issue derives essentially from case reports and small cohorts of patients. The aim of this review is to report all available literature data on clinical aspects, therapeutic management and outcomes of precocious puberty in children with MAS. A systematic research was carried out through MEDLINE via PubMed, EMBASE, Web of Science, Semantic Scholar, Cochrane Library.
| S-EPMC6023984 | biostudies-literature
Project description:ObjectiveGonadotropin-releasing hormone agonist (GnRHa) treatment improves the potential for gaining height in patients with central precocious puberty (CPP). However, most studies have focused on girls because CPP in boys is relatively rare. Therefore, we aimed to determine the effect of GnRHa treatment on auxological outcomes in boys with CPP.MethodsEighty-five boys with CPP were treated with leuprolide or triptorelin acetate 3.75 mg over 2 years. Anthropometry, bone age, sexual maturity rating, and predicted adult height (PAH) were assessed every 6 months. Furthermore, 20 boys were followed up after treatment discontinuation until achievement of the final adult height (FAH).ResultsThe mean chronological age (CA) and bone age (BA) of the patients with CPP at treatment initiation were 9.5 ± 0.5 years and 11.7 ± 0.9 years, respectively. The mean duration of treatment was 2.87 ± 0.63 years. The PAH at treatment initiation was 172.1 cm (-0.23 ± 1.05 PAH standard deviation score). The PAH at treatment discontinuation (176.2 ± 6.6 cm) was significantly higher than the pretreatment PAH. In addition, the mean final adult height in the 20 boys who were followed up after discontinuation of treatment was 173.4 ± 5.8 cm, which was significantly higher than the initial PAH (170.1 ± 4.5 cm; p = 0.006). In multivariate analysis, the height gain (the difference between the FAH and PAH at treatment initiation) significantly correlated with the target height.ConclusionLong-term GnRHa treatment significantly improved the growth potential and FAH in boys with CPP.
| S-EPMC7728242 | biostudies-literature
Project description:BackgroundOver the last few decades, there has been growing evidence of earlier onset and progression of puberty worldwide. This population-based longitudinal cohort study aimed to analyze the change in the annual incidence rate of central precocious puberty (CPP) among Korean children over the most recent decade, using the national registry data.MethodThe International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10) and insurance claims for gonadotropin-releasing hormone agonist (GnRHa) treatment were used to identify CPP patients who were using the Korean Health Insurance Review & Assessment Service (HIRA) database between 2008 and 2020. Patients who began GnRHa therapy before the age of 9 and 10 for girls and boys, respectively, were included in the study.ResultsA total of 6,906 boys and 126,377 girls were diagnosed with CPP between 2008 and 2020. The annual incidence of CPP increased by 83.3 times in boys (from 1.2 to 100 per 100,000 persons) and by 15.9 times in girls (from 88.9 to 1414.7 per 100,000 persons). The age-specific annual incidence of CPP increased remarkably more in older children than in younger ones; the 2020 CPP incidence among 9-year-old boys and 8-year-old girls reached 705.2 and 7,967.3 per 100,000 persons, respectively. The annual prevalence of CPP in boys and girls increased from 2.7 to 206.5 (76.5 times) and from 141.8 to 3439.9 (24.3 times) per 100,000 persons, respectively.ConclusionBased on GnRHa treatment insurance claims, our study suggests that the annual incidence of CPP has substantially increased in Korea during the past 13 years. These findings highlight the importance of meticulous judgment by doctors in determining GnRHa treatment.
| S-EPMC10032490 | biostudies-literature
Project description:Pubertal onset is known to result from reactivation of the hypothalamic-pituitary-gonadal (HPG) axis, which is controlled by complex interactions of genetic and nongenetic factors. Most cases of precocious puberty (PP) are diagnosed as central PP (CPP), defined as premature activation of the HPG axis. The cause of CPP in most girls is not identifiable and, thus, referred to as idiopathic CPP (ICPP), whereas boys are more likely to have an organic lesion in the brain. ICPP has a genetic background, as supported by studies showing that maternal age at menarche is associated with pubertal timing in their offspring. A gain of expression in the kisspeptin gene (KISS1), gain-of-function mutation in the kisspeptin receptor gene (KISS1R), loss-of-function mutation in makorin ring finger protein 3 (MKRN3), and loss-of-function mutations in the delta-like homolog 1 gene (DLK1) have been associated with ICPP. Other genes, such as gamma-aminobutyric acid receptor subunit alpha-1 (GABRA1), lin-28 homolog B (LIN28B), neuropeptide Y (NPYR), tachykinin 3 (TAC3), and tachykinin receptor 3 (TACR3), have been implicated in the progression of ICPP, although their relationships require elucidation. Environmental and socioeconomic factors may also be correlated with ICPP. In the progression of CPP, epigenetic factors such as DNA methylation, histone posttranslational modifications, and noncoding ribonucleic acids may mediate the relationship between genetic and environmental factors. CPP is correlated with short- and long-term adverse health outcomes, which forms the rationale for research focusing on understanding its genetic and nongenetic factors.
| S-EPMC8990949 | biostudies-literature
Project description:ObjectiveThe study aimed to develop simplified diagnostic models for identifying girls with central precocious puberty (CPP), without the expensive and cumbersome gonadotropin-releasing hormone (GnRH) stimulation test, which is the gold standard for CPP diagnosis.Materials and methodsFemale patients who had secondary sexual characteristics before 8 years old and had taken a GnRH analog (GnRHa) stimulation test at a medical center in Guangzhou, China were enrolled. Data from clinical visiting, laboratory tests, and medical image examinations were collected. We first extracted features from unstructured data such as clinical reports and medical images. Then, models based on each single-source data or multisource data were developed with Extreme Gradient Boosting (XGBoost) classifier to classify patients as CPP or non-CPP.ResultsThe best performance achieved an area under the curve (AUC) of 0.88 and Youden index of 0.64 in the model based on multisource data. The performance of single-source models based on data from basal laboratory tests and the feature importance of each variable showed that the basal hormone test had the highest diagnostic value for a CPP diagnosis.ConclusionWe developed three simplified models that use easily accessed clinical data before the GnRH stimulation test to identify girls who are at high risk of CPP. These models are tailored to the needs of patients in different clinical settings. Machine learning technologies and multisource data fusion can help to make a better diagnosis than traditional methods.
| S-EPMC7886559 | biostudies-literature
Project description:ObjectivesObesity is reported to be closely relevant to early sexual development but the relationship between sexual precocity and obesity or central obesity is still inconsistent, especially in boys. We aimed to investigate the relationship between precocious puberty and obesity as well as central obesity.DesignA large population-based cross-sectional study using multistage, stratified cluster random sampling.SettingData from the Shanghai Children's Health, Education and Lifestyle Evaluation (SCHEDULE) study in June 2014.Participants17?620 Chinese children aged 6-12 years.Primary and secondary outcome measuresObesity was defined by WHO Child Growth Standards. Central obesity was defined by sex-specific waist-to-height ratio (WHtR) cut-offs (WHtR ?0.48 for boys, WHtR ?0.46 for girls). Precocious puberty was identified by Tanner stage of breast, pubic hair and testicle development. A ?2 test was performed to compare rates. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess the association between precocious puberty and general obesity and central obesity. Probit analysis was used for estimating the median age at entry into Tanner stage 2 or greater for breast, pubic hair and testicle development. Linear regression was utilised to compare the effects of WHtR and body mass index (BMI) on sex development indicators.Results25.98% and 38.58%?of boys with precocious puberty were respectively accompanied by obesity (OR=2.15, 95%?CI=1.31 to 3.50) or central obesity (OR=2.10, 95%?CI=1.46 to 3.03); meanwhile, 13.86% and 29.42%?of girls with precocious puberty were respectively accompanied by obesity (OR=9.00, 95%?CI=5.60 to 14.46) or central obesity (OR=5.40, 95%?CI=4.10 to 7.12). The median ages of breast, pubic hair and testicle development decreased with BMI increase and median ages of thelarche and testicular development rather than pubarche were earlier in children with central obesity.ConclusionsEarlier pubertal development was positively associated with obesity and central obesity in Chinese children.
| S-EPMC5566589 | biostudies-literature
Project description:We examined the adequacy of existing shielding guidelines using five-year clinical data from a busy CyberKnife center. From June 2006 through July 2011, 1,370 patients were treated with a total of 4,900 fractions and 680,691 radiation beams using a G4 CyberKnife. Prescription dose and total monitor units (MU) were analyzed to estimate the shielding workload and modulation factor. In addition, based on the beam's radiation source position, targeting position, MU, and beam collimator size, the MATLAB program was used to project each beam toward the shielding barrier. The summation of the projections evaluates the distribution of the shielding load. On average, each patient received 3.6 fractions, with an average 9.1 Gy per fraction prescribed at the 71.1% isodose line, using 133.7 beams and 6,200 MU. Intracranial patients received an average of 2.7 fractions, with 8.6 Gy per fraction prescribed at the 71.4% isodose line, using 133 beams and 5,083 MU. Extracranial patients received an average of 3.94 fractions, with 9.2 Gy per frac- tion prescribed at the 71% isodose line, using 134 beams and 6,514 MU. Most- used collimator sizes for intracranial patients were smaller (7.5 to 20 mm) than for extracranial patients (20 to 40 mm). Eighty-five percent of the beams exited through the floor, and about 40% of the surrounding wall area received no direct beam. For the rest of the wall, we found "hot" areas that received above-average MU. The locations of these areas were correlated with the projection of the nodes for extracranial treatments. In comparison, the beam projections on the wall were more spread for intracranial treatments. The maximum MU any area received from intracranial treatment was less than 0.25% of total MU used for intracranial treatments, and was less than 1.2% of total MU used for extracranial treatments. The combination of workload, modulation factor, and use factor in our practice are about tenfold less than recommendations in the existing CyberKnife shielding guidelines. The current guidelines were found to be adequate for shielding, even in a busy center. There may be a potential to reduce shielding in areas with no or few direct beams in the current G4 model. Since a newer model CyberKnife (M6) has recently been introduced, the patterns of usage reported here may be changed in the future. The uneven distribution of use factor we have found may, however, be considered in the vault design.
| S-EPMC5711125 | biostudies-literature
Project description:BackgroundIn 90% cases of girls and 25-60% cases of boys the cause of gonadotropin-dependent precocious puberty (PP) is unclear. Up to 25-27.5% of gonadotropin-dependent PP cases are monogenic and suggest autosomal-dominant inheritance with incomplete sex-dependent penetrance. To date, mutations in genes KISS1, KISS1R, MKRN3, DLK1 have been described as causal variants leading to precocious hypothalamic-pituitary axis activation in childhood. Genetic testing in patients with hereditary forms of PP can expand our knowledge of underlying molecular mechanisms of the disease and it is also necessary for genetic counselling.AimTo study clinical features and genetic characteristics of patients with idiopathic gonadotropin-dependent precocious puberty.Materials and methodsA group of patients with idiopathic gonadotropin-dependent precocious puberty and positive family history (early or precocious puberty) was examined. Laboratory and instrumental diagnostic tests, full-exome sequencing (NGS, next-generation sequencing) were provided for all patients.ResultsThe study included 30 patients (29 girls, 1 boy) with idiopathic gonadotropin-dependent precocious puberty. The median of patients age at the time of the examination was 7,2 years [6,5; 7,7]. Positive family history presented in all cases: in 40% of patients on father's side, in 37% - on mother's side, in 23% of patients PP was diagnosed in siblings. The fullexome sequencing was conducted to 21 patients: in 61,9% of cases (95% CI [40;79]) nucleotide variants were identified in genes, associated with gonadotropin-dependent precocious puberty. MKRN3 gene defect was detected in most cases (77% cases (95% CI [49; 92]), which consistent with international data on its highest prevalence in the monogenic forms of PP. In 23% of cases (95% CI [7; 50]) nucleotide variants were identified in other candidate genes associated with neuroontogenesis and neuroendocrine regulation mechanisms of hypothalamic-pituitary axis.ConclusionOur study confirms that detailed family history data in children with PP provides a rational approach to molecular-genetic testing. Data of inheritance pattern and clinical manifestations will simplify the diagnosis of hereditary forms of disease and enhance genetic counselling of families, followed by timely examination and administration of pathogenetic therapy.
| S-EPMC10204783 | biostudies-literature
Project description:PURPOSE:Single-nucleotide polymorphism (SNP) markers within LIN28B have been reported to be related to the timing of pubertal growth. However, no study has investigated the frequency of genetic markers in girls with precocious puberty (PP) or early puberty (EP). This study aimed to determine the frequency of putative genetic markers in girls with PP or EP. METHODS:Genomic DNAs were obtained from 77 and 109 girls that fulfilled the criteria for PP and EP, respectively. The controls in this study were 144 healthy volunteers between 20 and 30 years of age. The haplotypes were reconstructed using 11 SNPs of LIN28B, and haplotype association analysis was performed. The haplotype frequencies were compared. Differences in the clinical and laboratory parameters were analyzed according to the haplotype dosage. RESULTS:Eleven SNPs in LIN28B were all located in a block that was in linkage disequilibrium. The haplotype could be reconstructed using 2 representative SNPs, rs4946651 and rs369065. The AC haplotype was less frequently observed in the PP group than in the controls (0.069 vs. 0.144, P=0.010). The trend that girls with non-AC haplotypes tended to have earlier puberty onset (P=0.037) was illustrated even in the EP+PP patient group by Kaplan-Meier analysis. CONCLUSION:The results of the present study showed that non-AC haplotypes of LIN28B had a significant association with PP in girls.
| S-EPMC3488615 | biostudies-literature