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Development of Prediction Models Using Machine Learning Algorithms for Girls with Suspected Central Precocious Puberty: Retrospective Study.

ABSTRACT: BACKGROUND:Central precocious puberty (CPP) in girls seriously affects their physical and mental development in childhood. The method of diagnosis-gonadotropin-releasing hormone (GnRH)-stimulation test or GnRH analogue (GnRHa)-stimulation test-is expensive and makes patients uncomfortable due to the need for repeated blood sampling. OBJECTIVE:We aimed to combine multiple CPP-related features and construct machine learning models to predict response to the GnRHa-stimulation test. METHODS:In this retrospective study, we analyzed clinical and laboratory data of 1757 girls who underwent a GnRHa test in order to develop XGBoost and random forest classifiers for prediction of response to the GnRHa test. The local interpretable model-agnostic explanations (LIME) algorithm was used with the black-box classifiers to increase their interpretability. We measured sensitivity, specificity, and area under receiver operating characteristic (AUC) of the models. RESULTS:Both the XGBoost and random forest models achieved good performance in distinguishing between positive and negative responses, with the AUC ranging from 0.88 to 0.90, sensitivity ranging from 77.91% to 77.94%, and specificity ranging from 84.32% to 87.66%. Basal serum luteinizing hormone, follicle-stimulating hormone, and insulin-like growth factor-I levels were found to be the three most important factors. In the interpretable models of LIME, the abovementioned variables made high contributions to the prediction probability. CONCLUSIONS:The prediction models we developed can help diagnose CPP and may be used as a prescreening tool before the GnRHa-stimulation test.

SUBMITTER: Pan L

PROVIDER: S-EPMC6390190 | biostudies-other | 2019 Feb

REPOSITORIES: biostudies-other

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Development of Prediction Models Using Machine Learning Algorithms for Girls with Suspected Central Precocious Puberty: Retrospective Study.

Pan Liyan L Liu Guangjian G Mao Xiaojian X Li Huixian H Zhang Jiexin J Liang Huiying H Li Xiuzhen X

JMIR medical informatics 20190212 1

<h4>Background</h4>Central precocious puberty (CPP) in girls seriously affects their physical and mental development in childhood. The method of diagnosis-gonadotropin-releasing hormone (GnRH)-stimulation test or GnRH analogue (GnRHa)-stimulation test-is expensive and makes patients uncomfortable due to the need for repeated blood sampling.<h4>Objective</h4>We aimed to combine multiple CPP-related features and construct machine learning models to predict response to the GnRHa-stimulation test.<h ...[more]

PMID: 30747712

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Project description:BackgroundRecent studies demonstrated that changes in DNA methylation (DNAm) and inactivation of two imprinted genes (MKRN3 and DLK1) alter the onset of female puberty. We aimed to investigate the association of DNAm profiling with the timing of human puberty analyzing the genome-wide DNAm patterns of peripheral blood leukocytes from ten female patients with central precocious puberty (CPP) and 33 healthy girls (15 pre- and 18 post-pubertal). For this purpose, we performed comparisons between the groups: pre- versus post-pubertal, CPP versus pre-pubertal, and CPP versus post-pubertal.ResultsAnalyzing the methylome changes associated with normal puberty, we identified 120 differentially methylated regions (DMRs) when comparing pre- and post-pubertal healthy girls. Most of these DMRs were hypermethylated in the pubertal group (99%) and located on the X chromosome (74%). Only one genomic region, containing the promoter of ZFP57, was hypomethylated in the pubertal group. ZFP57 is a transcriptional repressor required for both methylation and imprinting of multiple genomic loci. ZFP57 expression in the hypothalamus of female rhesus monkeys increased during peripubertal development, suggesting enhanced repression of downstream ZFP57 target genes. Fourteen other zinc finger (ZNF) genes were related to the hypermethylated DMRs at normal puberty. Analyzing the methylome changes associated with CPP, we demonstrated that the patients with CPP exhibited more hypermethylated CpG sites compared to both pre-pubertal (81%) and pubertal (89%) controls. Forty-eight ZNF genes were identified as having hypermethylated CpG sites in CPP.ConclusionMethylome profiling of girls at normal and precocious puberty revealed a widespread pattern of DNA hypermethylation, indicating that the pubertal process in humans is associated with specific changes in epigenetically driven regulatory control. Moreover, changes in methylation of several ZNF genes appear to be a distinct epigenetic modification underlying the initiation of human puberty.

Project description:Background: Whether girls with central precocious puberty (CPP) should undergo routine brain magnetic resonance imaging (MRI) to identify potential intracranial pathologies is controversial. Aims: To evaluate the brain MRI results of girls with CPP and identify the clinical and endocrine predictors of brain abnormalities. Methods: This retrospective study obtained data from pediatric endocrine clinics at Chang Gung Children's Hospital. From 1997 and 2017, 403 girls were consecutively diagnosed with CPP. After the exclusion of patients with a history of central nervous system (CNS) insults or associated neuropsychiatric symptom or signs, we studied the prevalence of brain abnormalities in 251 girls with CPP who received detailed MRI examinations of the hypothalamus and pituitary area. We also recorded the demographic data of the participants, including the onset of puberty; initial pubertal status; height; weight; uterus and ovary sizes; and basal luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradiol levels, and the response to GnRH stimulation test. Results: Among the 251 girls with CPP, we observed no brain alterations in 190 (75.70%), abnormalities in the hypothalamic-pituitary (H-P) area in 54 (21.51%), and abnormalities in the non-H-P area in 7 (2.79%). Among the 54 patients that had H-P lesions, we noted pathological findings related to CPP (hypothalamic hamartoma) in only one (0.4%) girl aged below 6 years old. We also identified incidental findings in the other girls with H-P lesions, including non-functioning pituitary microadenomas (12.35%), pituitary pars intermedia cysts (4.38%), Rathke's pouch cysts (1.99%), pituitary hypoplasia (1.59%), and pineal gland cysts (0.8%). The patients that had non-H-P lesions were found to have arachnoid cysts (1.59%), Chiari I malformation (0.4%), prepontine nodule (0.4%), and choroidal fissure cyst (0.4%). Of all the patients with brain lesions, 45 (73.77%) underwent regular MRI follow-up. While none of the H-P and non-H-P lesions showed progression, 19.67% of these regressed during the follow-up. None of the participants exhibited other hormonal abnormalities or underwent surgery. Conclusion: The prevalence of true pathological brain lesions related to CPP in girls without prior symptoms or signs of CNS lesions was low (0.4%). None of the girls with intracranial lesions required further intervention besides the GnRH agonist treatment. These data question the routine use of brain MRI in all girls with CPP, especially in those who are healthy without neurologic symptoms.

Dataset Information

Development of Prediction Models Using Machine Learning Algorithms for Girls with Suspected Central Precocious Puberty: Retrospective Study.

Publications

Development of Prediction Models Using Machine Learning Algorithms for Girls with Suspected Central Precocious Puberty: Retrospective Study.

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