scholarly journals The Value of Urinary Gonadotropins in the Diagnosis of Central Precocious Puberty: A Meta-Analysis

2021 ◽  
Author(s):  
Dan Xu ◽  
◽  
Xueying Zhou ◽  
Junfei Wang ◽  
Xi Cao ◽  
...  
Keyword(s):  
Luteinizing Hormone ◽  
Precocious Puberty ◽  
Meta Analysis ◽  
Central Precocious Puberty ◽  
Stimulation Test ◽  
Age At Menarche ◽  
Sample Collection ◽  
Early Puberty ◽  
Final Adult Height ◽  
Sexual Characteristics

Review question / Objective: Precocious puberty is defined as the onset of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. It can be differentiated into central precocious puberty (CPP) and peripheral precocious puberty, and it is more common in girls than in boys. CPP may result in a decreased final adult height, an early age at menarche, and psychological and health problems in adulthood. Gonadotropin-releasing hormone (GnRH) GnRH stimulation test has been indispensable in the diagnosis of CPP. GnRH stimulation test is not only invasive, time-consuming and expensive, but also sometimes difficult to have patients cooperate. Nocturnal urinary LH and FSH can represent gonadotropin excretion in children with normal and early puberty. And urinary sample collection and evaluation are more convenient, more acceptable, cheaper, and noninvasive. This meta-analysis aims to assess the value of first-voided urinary luteinizing hormone (LH) and the ratio of urinary luteinizing hormone and follicle-stimulating hormone (FSH) in the diagnosis of female CPP and to compare the accuracy between urinary gonadotropins and serum GnRH-stimulated gonadotropins.

Treatment of central precocious puberty and early puberty with GnRH analog in girls with Williams-Beuren syndrome

2015 ◽  
Vol 28 (11-12) ◽  
Author(s):  
Sarah Spielmann ◽  
Carl Joachim Partsch ◽  
Angela Gosch ◽  
Rainer Pankau
Keyword(s):  
Adult Female ◽  
Precocious Puberty ◽  
Final Height ◽  
Central Precocious Puberty ◽  
Control Group ◽  
Age At Menarche ◽  
Early Puberty ◽  
Gnrh Analog ◽  
Female Patients ◽  
Significant Difference

AbstractLittle has been published on treatment of precocious puberty in girls with Williams-Beuren syndrome (WBS), a condition occurring frequently in this group. We analyzed our own data on growth/age at menarche of now adult female patients with WBS being diagnosed with central precocious puberty or early puberty. Data of patients treated with gonadotropin-releasing hormone (GnRH) analog (n=13) were compared with those not treated (control group, n=11).Longitudinal data on the somatic development of 24 now adult female patients were analyzed.Medium final height was 157.2±6.5 cm compared to 151.4±5.6 cm in the control group. No significant difference could be found in the discrepancy of genetic target height and final height. Prepubertally girls were normal weight in both groups; in adulthood the majority of patients were overweight/obese. Menarche commenced 11 months after cessation of therapy.As already known from other studies, hormonal suppression via GnRH analog was well tolerated.

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

2018 ◽  
Author(s):  
Liyan Pan ◽  
Guangjian Liu ◽  
Xiaojian Mao ◽  
Huixian Li ◽  
Jiexin Zhang ◽  
...  
Keyword(s):  
Machine Learning ◽  
Retrospective Study ◽  
Random Forest ◽  
Precocious Puberty ◽  
Prediction Models ◽  
Central Precocious Puberty ◽  
Machine Learning Algorithms ◽  
Stimulation Test ◽  
Gnrh Analogue ◽  
Prediction Probability

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.

scholarly journals Ovarian cysts and tumors as the cause of isosexual pseudoprecocious puberty

2006 ◽  
Vol 134 (7-8) ◽  
pp. 305-309 ◽  
Author(s):  
Katarina Mitrovic ◽  
Dragan Zdravkovic ◽  
Tatjana Milenkovic ◽  
Katarina Sedlecki ◽  
Zoran Stankovic
Keyword(s):  
Luteinizing Hormone ◽  
Granulosa Cell ◽  
Precocious Puberty ◽  
Granulosa Cell Tumor ◽  
Central Precocious Puberty ◽  
Bone Age ◽  
Cell Tumor ◽  
Ovarian Cysts ◽  
Pelvic Ultrasound ◽  
Releasing Hormone

Introduction. Precocious puberty in girls is generally defined as appearance of secondary sexual characteristics before eight years of age. Menarche before the ninth birthday may serve as an additional criterion. Precocious puberty is divided in central precocious puberty and pseudoprecocious puberty. Central precocious puberty (GnRH dependent) occurs because of premature activation of hypothalamic-pituitarygonadal axis and activity of gonadotrophins. Pseudoprecocious puberty (GnRH independent) is caused by activity of sexual steroids that are not the result of gonadotrophin activity. Objective. Objective of our study was to examine the etiology, clinical and laboratory manifestations of isosexual pseudoprecocious puberty in girls. Method. In the period between 1995 and 2004, clinical and laboratory sings of 34 girls with precocious puberty were studied at the Endocrine Department of the Institute of Mother and Child Health Care of Serbia. Initial evaluations included height measurement, staging of puberty, bone age assessment and pelvic ultrasound. Important diagnostic sonographic parameters of precocious puberty were the volumes of ovaries and uterus as well as ovarian structure. The initial hormonal evaluation included measuring of plasma oestradiol, luteinizing hormone (LH) and follicle stimulating hormone (FSH). The luteinizing hormone releasing hormone (LHRH) stimulation test was used to evaluate LH and FSH responsiveness (60 ?g/m2 LHRH- Relefact LHRH?, Ferring). Blood samples were collected at 0, 20 and 60 minutes. Basal and GnRH stimulated LH and FSH were determined by immunoradiometric assay. Estradiol concentration was measured using the fluoroimmunometric assay. Results. Thirty-four girls aged 6 months to 9 years (mean age 4.5 years) with precocious puberty were studied during the period of 9 years. Eleven girls presented with breast development, six with vaginal bleeding and seventeen with signs of puberty. On the basis of clinical signs, bone age, estradiol levels and LHRH test, premature the larche was diagnosed in eleven patients (32.4%), premature menarche in six (17.6%) and central precocious puberty in ten girls (29.4%). Seven girls (20.6%) presented with pseudoprecocious puberty. Pelvic ultrasound examination revealed unilateral ovarian cysts in six patients and granulosa cell tumor in one. Elevated estrogen serum levels and failure of gonadotropin responses after gonadotropin releasing hormone were the classical findings in patients with isosexual pseudoprecocious puberty during the acute period of disease. In four patients, the cyst decreased spontaneously after several months, while in two patients, the cyst was removed by laparotomy. Surgical treatment was performed in a patient with granulosa cell tumor. Conclusion. Our work demonstrates that autonomous functional ovarian follicle cyst is the most often cause of isosexual pseudoprecocious puberty. Short period of observation is suggested because the cyst can resolve spontaneously. On the other hand, juvenile granulosa cell tumor, as highly malignant tumor, should be removed as soon as diagnosis is established.

scholarly journals Central Precocious Puberty in a Girl and Early Puberty in Her Brother Caused by a Novel Mutation in the MKRN3 Gene

2014 ◽  
Vol 99 (4) ◽  
pp. E647-E651 ◽  
Author(s):  
Nikolaos Settas ◽  
Catherine Dacou-Voutetakis ◽  
Maria Karantza ◽  
Christina Kanaka-Gantenbein ◽  
George P. Chrousos ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Novel Mutation ◽  
Structural Alignment ◽  
In Silico Analysis ◽  
Missense Variant ◽  
Central Precocious Puberty ◽  
Dimensional Structure ◽  
Sex Characteristics ◽  
Coding Region ◽  
Early Puberty

Context: Central precocious puberty (CPP), defined as the development of secondary sex characteristics prior to age 8 years in girls and 9 years in boys, results from the premature activation of the hypothalamic-pituitary-gonadal axis. Mutations in the imprinted gene MKRN3 have been recently implicated in familial cases of CPP. Objective: The objective of the study was to uncover the genetic cause of CPP in a family with two affected siblings. Design and participants: The entire coding region of the paternally expressed MKRN3 gene was sequenced in two siblings, a girl with CPP and her brother with early puberty, their parents, and their grandparents. Results: A novel heterozygous missense variant in the MKRN3 gene (p.C340G) was detected in the two affected siblings, their unaffected father, and the paternal grandmother. As expected, the mutated allele followed an imprinted mode of inheritance within the affected family. In silico analysis predicts the mutation as possibly damaging in all five software packages used. Furthermore, structural alignment of the ab initio native and mutant MKRN3 models predicts that the p.C340G mutation leads to significant structural perturbations in the 3-dimensional structure of the C3HC4 really interesting new gene motif of the protein, further emphasizing the functional implications of the novel MKRN3 alteration. Conclusions: We report a novel MKRN3 mutation (p.C340G) in a girl with CPP and her brother with early puberty. MKRN3 alterations should be suspected in all cases with familial CPP or early puberty, especially if male patients are also involved or the precocious puberty trend does not follow the usually observed mother-to-daughter inheritance.

Genetic factors of idiopathic central precocious puberty and their polygenic risk in early puberty

2021 ◽  
Author(s):  
Wei-De Lin ◽  
Chi-Fung Cheng ◽  
Chung-Hsing Wang ◽  
Wen-Miin Liang ◽  
Chien-Hsiun Chen ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Pubertal Timing ◽  
Central Precocious Puberty ◽  
P Value ◽  
Validation Group ◽  
Early Puberty ◽  
Genetic Characteristics ◽  
Polygenic Risk ◽  
Idiopathic Central Precocious Puberty ◽  
Group A

Objective: To investigate the genetic characteristics of idiopathic central precocious puberty (ICPP) and validate its polygenic risk for early puberty. Design and methods: A bootstrap subsampling and genome-wide association study was performed on Taiwanese Han Chinese girls comprising 321 ICPP patients and 148 controls. Using previous GWAS data on pubertal timing, a replication study was performed. A validation group was also investigated for the weighted polygenic risk score (wPRS) of the risk of early puberty. Results: A total of 105 SNPs for the risk of ICPP were identified, of which 22 yielded an area under the receiver operating characteristic curve of 0.713 for the risk of early puberty in the validation group. A replication study showed that 33 SNPs from previous GWAS data of pubertal timing were associated with the risk of ICPP (training group: P-value < 0.05). In the validation group, a cumulative effect was observed between the wPRS and the risk of early puberty in a dose-dependent manner [validation group: Cochran-Armitage trend test: P-value < 1.00E-04; wPRS quartile 2 (Q2) (odds ratio [OR] = 5.00, 95% confidence interval [CI]: 1.5516.16), and wPRS Q3 (OR = 11.67, 95% CI: 2.4455.83)]. Conclusions: This study reveals the ICPP genetic characteristics with 22 independent and 33 reported SNPs in the Han Chinese population from Taiwan. This study may contribute to understand the genetic features and underlying biological pathways that control pubertal timing and pathogenesis of ICPP and also to the identify of individuals with a potential genetic risk of early puberty.

scholarly journals A diagnostic model of idiopathic central precocious puberty based on transrectal pelvic ultrasound and basal gonadotropin levels

2020 ◽  
Vol 48 (8) ◽  
pp. 030006052093527
Author(s):  
Bo Yuan ◽  
Ya-Lei Pi ◽  
Ya-Nan Zhang ◽  
Peng Xing ◽  
He-Meng Chong ◽  
...  
Keyword(s):  
Luteinizing Hormone ◽  
Precocious Puberty ◽  
Endometrial Thickness ◽  
Central Precocious Puberty ◽  
Diagnostic Model ◽  
Transverse Diameter ◽  
Pelvic Ultrasound ◽  
Ovarian Volume ◽  
Idiopathic Central Precocious Puberty ◽  
Anterior Posterior

Objective To establish a diagnostic model of idiopathic central precocious puberty on the basis of transrectal pelvic ultrasound and basal gonadotropin. Methods A total of 669 girls with Tanner breast development stage II were enrolled in this study from January 2015 to December 2018. The participants were divided into the ICPP group and the premature thelarche group. We analyzed various variables, including age at initial diagnosis, basal luteinizing hormone levels, the long diameter of the uterus, the transverse diameter of the uterus, the anterior–posterior diameter of the uterus, the volume of the uterus, maximum ovarian diameter, average ovarian volume, maximum ovarian volume, number of follicles (≥4 mm), maximum follicular diameter, endometrial thickness, and vaginal wall thickness. Results The following diagnostic model was established: Y=−14.123 + 0.630 × age at initial diagnosis + 1.119 × transverse diameter of the uterus + 1.278 ×  anterior–posterior diameter of the uterus + 0.637 × average ovarian volume + 1.316 × maximum ovarian diameter + 0.146 ×number of follicles ≥4 mm + 2.925 × endometrial thickness + 0.559 × basal luteinizing hormone value. The area under curve was 0.922, sensitivity was 84.9%, and specificity was 86.2%. Conclusion Basal LH levels and transrectal pelvic ultrasound should be applied together to improve the accuracy of diagnosis in ICPP.

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