Clinical Exome Sequencing Reveals MKRN3 Pathogenic Variants in Familial and Nonfamilial Idiopathic Central Precocious Puberty

2016 ◽  
Vol 87 (2) ◽  
pp. 88-94 ◽  
Author(s):  
Nelmar Valentina Ortiz-Cabrera ◽  
Rosa Riveiro-Álvarez ◽  
Miguel Ángel López-Martínez ◽  
Pilar Pérez-Segura ◽  
Isabel Aragón-Gómez ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Precocious Puberty ◽  
Central Precocious Puberty ◽  
Pathogenic Variants ◽  
Idiopathic Central Precocious Puberty ◽  
Clinical Exome Sequencing

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.

Increased frequency of idiopathic central precocious puberty in girls during the COVID-19 pandemic: preliminary results of a tertiary center study

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Sezer Acar ◽  
Behzat Özkan
Keyword(s):  
Precocious Puberty ◽  
Clinical Characteristics ◽  
Laboratory Data ◽  
Central Precocious Puberty ◽  
Pediatric Endocrinology ◽  
Idiopathic Central Precocious Puberty ◽  
Tertiary Center ◽  
One Year ◽  
The One ◽  
Endocrinology Clinic

Abstract Objectives Recent studies have demonstrated an increase in the frequency of idiopathic central precocious puberty (CPP) during the severe acute respiratory syndrome coronavirus 2 (COVID-19) pandemic. We compared the demographic, anthropometric, and clinical characteristics of idiopathic CPP patients diagnosed during a one-year period of the COVID-19 pandemic with the characteristics of patients diagnosed during the same period in the previous three-years. Methods Demographic, clinical, anthropometric, and laboratory data of all patients diagnosed in our Pediatric Endocrinology clinic with idiopathic CPP during a one-year period of the COVID-19 pandemic (April 2020–March 2021) and a three-year period before the pandemic (April 2017–March 2020) were evaluated retrospectively. Results A total of 124 patients (124 girls, zero boys) diagnosed with idiopathic CPP were included in this study. Sixty-six patients in the three-year period before the COVID-19 pandemic (April 2017–March 2020) and 58 patients (46.8%) in the one-year period during the COVID-19 pandemic period (April 2020–March 2021) were diagnosed with idiopathic CPP. Conclusions This study’s findings suggest that the number of girls diagnosed with idiopathic CPP during the one-year study period during the pandemic was more than double that of any of the previous three-years.

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.

Long-term effects of GnRH agonist treatment on body mass index in girls with idiopathic central precocious puberty

2020 ◽  
Vol 33 (1) ◽  
pp. 99-105 ◽  
Author(s):  
Dogus Vuralli ◽  
Zeynep Alev Ozon ◽  
Elmas Nazli Gonc ◽  
Ayfer Alikasifoglu ◽  
Nurgun Kandemir
Keyword(s):  
Body Mass Index ◽  
Body Mass ◽  
Precocious Puberty ◽  
Standard Deviation Score ◽  
Central Precocious Puberty ◽  
Normal Weight ◽  
Long Term Effects ◽  
Dietary Recommendations ◽  
Idiopathic Central Precocious Puberty

AbstractIntroductionStudies evaluating effects of gonadotropin-releasing hormone agonist (GnRHa) on weight and body-mass-index (BMI) in girls with idiopathic central precocious puberty (iCPP) include short-term effects. The aim of this study is to investigate changes in BMI during and 2 years after completion of GnRHa to determine the factors that may impact BMI in girls with iCPP.MethodsMedical files of 138 girls who completed GnRHa were evaluated. All patients had weight and height measurements at the beginning and end of treatment, and 111 patients had anthropometric measurements 2 years after the completion of treatment.ResultsIn the beginning, 82 (59.4%) had normal weight (NW), 42 (30.4%) were overweight (OW), and 14 (10.2%) were obese (OB). Analysis of BMI-standard deviation score (SDS) in the whole group showed an overall increase during GnRHa treatment (0.92 ± 0.74 vs. 1.20 ± 0.51, p < 0.001). Changes in BMI-SDS (ΔBMI-SDS) during GnRHa differed between NW and OW/OB (0.45 ± 0.31 vs. 0.03 ± 0.20, p < 0.001). BMI-SDSs of both groups returned to baseline scores (or initial levels) 2 years after the completion of treatment. Two factors affecting ΔBMI-SDS in multiple linear regression analyses were baseline BMI and Δheight-SDS, both correlated negatively with ΔBMI-SDS.ConclusionsThe present study is one of the studies evaluating BMI change over a long period of time in girls with CPP. Although BMI-SDS increased during GnRHa in NW girls, it was reversible in follow-up after treatment. However, BMI-SDS did not change during and in follow-up in OW/OB girls. Conserving BMI-SDS in OW/OB girls may be related to the fact that weight management programs were recommended for these patients. Dietary recommendations should be provided for children with NW who undergo GnRHa, as is the case for OW patients.

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