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52 results for “Precocious puberty”
Pathogenic and low frequency variants in children with central precocious puberty
<p><b>Background </b>Central precocious puberty (CPP) due<span> to premature activation of GnRH secretion results in early epiphyseal fusion and to a significant compromise in the achieved final adult height. CPP is usually idiopathic and is disproportionally observed in girls compared to boys. Currently, only few </span>genetic determinants of children with CPP have been described and the role they exert on the development of the disorder. In this original study rare variants in <i>MKRN3</i>, <i>DLK1</i>, <i>KISS1</i>, <i>KISS1R</i> and <i>MAGEL2</i> genes are reported in patients with CPP.</p> <p><b>Methods </b>Fifty-four index females and 2 index males with CPP underwent whole exome sequencing (WES) by Next Generation Sequencing (NGS). The identified rare variants were initially examined by <i>in silico</i> computational algorithms and confirmed by Sanger sequencing. Additionally, a genetic network for the <i>MKRN3</i> gene mimicking a holistic regulatory depiction of the crosstalk between <i>MKRN3</i> and other genes is designed.</p> <p><b>Results </b>Three previously described pathogenic <i>MKRN3</i> variants in the coding region of the gene occurred in 12 index females with CPP. With the p.Gly312Asp pathogenic variant of the <i>MKRN3 </i>gene being the most prevalent and exclusively found among the Cypriot CPP cohort, it is projected to be the result of founder effect phenomenon. In seven additional CPP patients from the same cohort several other likely and rare pathogenic upstream variants in the <i>MKRN3</i> gene were also observed. In addition to the <i>MKRN3</i> variants, a total of 16 other rare variants in <i>DLK1</i>, <i>KISS1</i> and <i>MAGEL2 </i>were also identified in other CPP patients from the same cohort. Interestingly, the frequent variant rs10407968 (p.Gly8Ter) of the <i>KISS1R</i> gene appeared to be less frequent in the cohort of patients with CPP.</p> <p><b>Conclusion</b> The results of the present study denote the key role of the imprinted <i>MKRN3</i> gene in puberty. Additionally, pathogenic variants can also exist in the noncoding region of the MKRN3 gene such as the proximal promoter and 5'-UTR region and which can also be considered as contributing factors to CPP. Overall, the results of present study have emphasised the necessity of the allied genetic and clinical approach which is necessary for the management and treatment of CPP.</p>
A Study to Assess the Efficacy and Safety of the Triptorelin 6-month Formulation in Paediatric Participants With Central Precocious Puberty.
ClinicalTrials.gov study NCT05029622. IPD Sharing: YES. Countries: 1. Publications: 1.
A Study to Assess the Safety and Efficacy of Leuprorelin in Central Precocious Puberty in Chinese Participants
ClinicalTrials.gov study NCT02427958. IPD Sharing: YES. Countries: 1. Publications: 1.
Pathogenic and low frequency variants in children with central precocious puberty
Open the record for dataset details and reuse information.
Machine learning identifies girls with central precocious puberty based on multi-source data
<p><strong>Objective: </strong>The 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.</p> <p><strong>Materials and Methods:</strong> Female 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 multi-source data were developed with Extreme Gradient Boosting (XGBoost) classifier to classify patients as CPP or non-CPP.</p> <p><strong>Results: </strong>The best performance achieved an AUC of 0.88 and Youden index of 0.64 in the model based on multi-source 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.</p> <p><strong>Conclusion: </strong>We 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 multi-source data fusion can help to make a better diagnosis than traditional methods.</p>
Internet Search Data on Precocious Puberty 2017 to 2021
<p>We assessed in Google Trends searches for 21 precocious puberty (PP)-related terms in English internationally, in the years 2017-2021. Additionally, we assessed local searches for selected terms, in English and local languages, in countries where a rise in PP has been reported. Searches were collected in Relative Search Volumes format.</p>
Safety Extension Study Of Leuprolide Acetate (Lupron Depot) In The Treatment Of Central Precocious Puberty
ClinicalTrials.gov study NCT00667446. IPD Sharing: Not stated. Countries: 2. Publications: 1.
A Study of Leuprolide 11.25 mg and 30 mg Administered Every 3 Months to Treat Central Precocious Puberty
ClinicalTrials.gov study NCT00635817. IPD Sharing: Not stated. Countries: 2. Publications: 1.
Efficacy, Safety, and Pharmacokinetics (PK) of Triptorelin 6-month Formulation in Patients With Central Precocious Puberty
ClinicalTrials.gov study NCT01467882. IPD Sharing: Not stated. Countries: 3. Publications: 4.
Study of Leuprolide Acetate Injectable Suspension in the Treatment of Central Precocious Puberty
ClinicalTrials.gov study NCT02452931. IPD Sharing: Not stated. Countries: 6. Publications: 1.
Study of Lupron Depot In The Treatment of Central Precocious Puberty
ClinicalTrials.gov study NCT00660010. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Machine learning identifies girls with central precocious puberty based on multi-source data
Open the record for dataset details and reuse information.
A Study to Assess the Safety and Efficacy of Enantone (Leuprorelin) in Central Precocious Puberty (CPP) Among Chinese Participants
ClinicalTrials.gov study NCT02993926. IPD Sharing: YES. Countries: 1. Publications: 0.
Histrelin Subcutaneous Implant in Children With Central Precocious Puberty
ClinicalTrials.gov study NCT00779103. IPD Sharing: Not stated. Countries: 0. Publications: 2.
Long-term Outcome of GnRH Analogues Treatment of Children With Idiopathic Central Precocious Puberty
ClinicalTrials.gov study NCT02790112. IPD Sharing: YES. Countries: 1. Publications: 23.
Testolactone for the Treatment of Girls With LHRH Resistant Precocious Puberty
ClinicalTrials.gov study NCT00001181. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Clinical Trial of Experienced Chinese Herbal Formulas on Different Types of Precocious Puberty
ClinicalTrials.gov study NCT02650141. IPD Sharing: NO. Countries: 1. Publications: 1.
The Effect of Decaffeinated Green Tea Polyphenol Intake on the Risk of Precocious Puberty Among Obese Girls
ClinicalTrials.gov study NCT03628937. IPD Sharing: NO. Countries: 1. Publications: 1.
Treatment of Boys With Precocious Puberty
ClinicalTrials.gov study NCT00001202. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Follow-up of Girls With Premature Thelarche and Precocious Puberty
ClinicalTrials.gov study NCT01944475. IPD Sharing: Not stated. Countries: 1. Publications: 10.
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