scholarly journals Evaluation of Serum Makorin Ring Finger Protein 3 (MKRN3) Levels in Girls With Idiopathic Central Precocious Puberty and Premature Thelarche

2020 ◽  
pp. 127-133 ◽  
Author(s):  
W. GE ◽  
H.-L. WANG ◽  
H.-J. SHAO ◽  
H.-W. LIU ◽  
R.-Y. XU
Keyword(s):  
Precocious Puberty ◽  
Ring Finger ◽  
Central Precocious Puberty ◽  
Healthy Controls ◽  
Diagnostic Biomarker ◽  
Ring Finger Protein ◽  
Premature Thelarche ◽  
Finger Protein ◽  
Idiopathic Central Precocious Puberty ◽  
Diagnostic Criterion

This study aims to investigate serum makorin ring finger protein 3 (MKRN3) levels in girls with idiopathic central precocious puberty (ICPP) and premature thelarche (PT), in order to determine whether circulating MKRN3 level is associated with ICPP and PT. A total of 90 girls were enrolled in the study. 30 age-matched girls were allocated for each group (ICPP, PT and healthy controls [HC], respectively). The base LH (B-LH) and E2 levels were higher in ICPP girls than those in HC and PT girls. The peak LH (P-LH) levels and P-LH/P-FSH values were obviously higher in ICPP girls than those in PT girls, while higher peak FSH (P-FSH) levels were detected in PT girls when compared to those in ICPP girls. Kisspeptin levels were lower in HC girls than those in ICPP and PT girls. MKRN3 levels were the highest in HC girls among the three groups. There were relatively strong negative correlations among MKRN3, kisspeptin and P-LH/P-FSH. Circulating MKRN3 can have an important role in the onset of ICPP and PT. However, this should not be used as an independent diagnostic criterion for diagnosing ICPP or differentiating ICPP from PT, but should be used only as an adjunctive diagnostic biomarker.

MKRN3 Levels in Girls with Central Precocious Puberty during GnRHa Treatment: A Longitudinal Study

2018 ◽  
Vol 90 (3) ◽  
pp. 190-195 ◽  
Author(s):  
Anna Grandone ◽  
Grazia Cirillo ◽  
Marcella Sasso ◽  
Gianluca Tornese ◽  
Caterina Luongo ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Ring Finger ◽  
Central Precocious Puberty ◽  
Serum Levels ◽  
Breast Development ◽  
Control Group ◽  
Ring Finger Protein ◽  
Finger Protein ◽  
17Β Estradiol ◽  
Puberty Onset

Background: Recently, mutations of makorin RING finger protein 3 (MKRN3) have been identified in familial central precocious puberty (CPP). Serum levels of this protein decline before the pubertal onset in healthy girls and boys and are lower in patients with CPP compared to prepubertal matched pairs. The aim of our study was to investigate longitudinal changes in circulating MKRN3 levels in patients with CPP before and during GnRH analogs (GnRHa) treatment. Methods: We performed a longitudinal prospective study. We enrolled 15 patients with CPP aged 7.2 years (range: 2–8) with age at breast development onset < 8 years and 12 control girls matched for the time from puberty onset (mean age 11.8 ± 1.2 years). Serum values of MKRN3, gonadotropins, and 17β-estradiol were evaluated before and during treatment with GnRHa (at 6 and 12 months). The MKRN3 gene was genotyped in CPP patients. In the girls from the control group, only basal levels were analyzed. Results: No MKRN3 mutations were found among CPP patients. MKRN3 levels declined significantly from baseline to 6 months of GnRHa treatment (p = 0.0007) and from 6 to 12 months of treatment (p = 0.003); MKRN3 levels at 6 months were significantly lower than in the control girls (p < 0.0001). Conclusions: We showed that girls with CPP had a decline in peripheral levels of MKRN3 during GnRHa treatment. Our data suggest a suppression of MKRN3 by continuous pharmacological administration of GnRHa.

Serum Makorin ring finger protein 3 values for predicting Central precocious puberty in girls

2019 ◽  
Vol 35 (8) ◽  
pp. 732-736 ◽  
Author(s):  
Hwal Rim Jeong ◽  
Hye Jin Lee ◽  
Yeong Suk Shim ◽  
Min Jae Kang ◽  
Seung Yang ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Ring Finger ◽  
Central Precocious Puberty ◽  
Ring Finger Protein ◽  
Finger Protein

scholarly journals 202 Central precocious puberty in dizygotic twin sisters caused by mutation in the makorin RING finger protein 3 gene

2021 ◽  
Author(s):  
Marija Požgaj Šepec ◽  
Lavinia La Grasta Sabolić ◽  
Magdalena Avbelj Stefanija ◽  
Jernej Kovač ◽  
Gordana Stipančić
Keyword(s):  
Precocious Puberty ◽  
Ring Finger ◽  
Central Precocious Puberty ◽  
Dizygotic Twin ◽  
Ring Finger Protein ◽  
Finger Protein

scholarly journals A case of familial central precocious puberty caused by a novel mutation in the makorin RING finger protein 3 gene

2015 ◽  
Vol 15 (1) ◽  
Author(s):  
Anna Grandone ◽  
Grazia Cantelmi ◽  
Grazia Cirillo ◽  
Pierluigi Marzuillo ◽  
Caterina Luongo ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Novel Mutation ◽  
Ring Finger ◽  
Central Precocious Puberty ◽  
Ring Finger Protein ◽  
Finger Protein

scholarly journals The Peripubertal Decline in Makorin Ring Finger Protein 3 Expression is Independent of Leptin Action

2020 ◽  
Vol 4 (7) ◽  
Author(s):  
Stephanie A Roberts ◽  
Ana Paula Abreu ◽  
Victor M Navarro ◽  
Joy N Liang ◽  
Caroline A Maguire ◽  
...  
Keyword(s):  
Arcuate Nucleus ◽  
Pubertal Development ◽  
Ring Finger ◽  
Central Precocious Puberty ◽  
Mrna Levels ◽  
Ring Finger Protein ◽  
Loss Of Function ◽  
Wild Type ◽  
Finger Protein ◽  
Significant Difference

Abstract A critical body weight is necessary for pubertal development, an effect mediated in part by leptin. The potential regulation by leptin of Makorin Ring Finger Protein 3 (MKRN3), in which loss-of-function mutations are the most common genetic cause of central precocious puberty, has not been previously explored. In mice, expression of Mkrn3 in the hypothalamic arcuate nucleus is high early in life and declines before the onset of puberty. Therefore, we aimed to explore if leptin contributes to the decrease in hypothalamic Mkrn3 mRNA levels observed in mice during pubertal development. We first used a leptin-deficient (ob/ob) mouse model. Mkrn3 mRNA levels in the mediobasal hypothalamus (MBH), which includes the arcuate nucleus, and in the preoptic area (POA), both showed a significant decrease with age from postnatal day (PND) 12 to PND30 in ob/ob mice in both males and females, similar to that observed in wild-type mice. To further explore the effects of leptin on Mkrn3 expression, we exposed prepubertal wild-type mice to high levels of leptin from age PND9-12, which did not result in any significant difference in Mkrn3 expression levels in either the MBH or POA. In summary, regulation of Mkrn3 expression by leptin was not observed in either the MBH or the POA, 2 hypothalamic sites important for pubertal maturation. These data suggest that the decline in Mkrn3 at the onset of puberty may occur independently of leptin and support our hypothesis that MKRN3 is a bona fide controller of puberty initiation.

Association study of DLK1 in girls with idiopathic central precocious puberty

2020 ◽  
Vol 33 (8) ◽  
pp. 1045-1049
Author(s):  
Hae Sang Lee ◽  
Kyung Hee Kim ◽  
Jin Soon Hwang
Keyword(s):  
Precocious Puberty ◽  
In Silico Analysis ◽  
Central Precocious Puberty ◽  
Healthy Controls ◽  
Coding Regions ◽  
Idiopathic Central Precocious Puberty ◽  
Sequence Variations ◽  
Significant Difference ◽  
The Relationship ◽  
Silico Analysis

AbstractObjectiveMutations in the delta-like 1 homolog (DLK1) gene have recently been reported in patients with idiopathic central precocious puberty (CPP). We aimed to investigate DLK1 mutations or polymorphisms in girls with CPP.MethodsA total of 100 girls diagnosed with idiopathic CPP were enrolled. DLK1 coding regions were sequenced in girls with idiopathic CPP and healthy girls (controls). The relationship between identified sequence variations and CPP was evaluated via comparison of allele frequencies between patients with CPP and normal healthy controls.ResultsWe identified five polymorphisms in DLK1. There was no significant difference with regard to allele frequency between patients with CPP and controls. Polymorphism c.549C>T (p.G183G) in DLK1 gene was identified in only one patient with CPP. In silico analysis with human splicing finder suggested that the variant (c.549C>T) leads to splicing defect.ConclusionsThe sequencing of DLK1 gene has uncovered only one potentially meaningful variant. However, our results demonstrate that DLK1 mutations are a relatively rare cause of idiopathic CPP.

scholarly journals Basal Serum Neurokinin B Levels in Differentiating Idiopathic Central Precocious Puberty from Premature Thelarche

2017 ◽  
Vol 9 (2) ◽  
pp. 101-105
Author(s):  
Mesut Parlak ◽  
Doğa Türkkahraman ◽  
Hamit Yaşar Ellidağ ◽  
Gamze Çelmeli ◽  
Ayşe Eda Parlak ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Central Precocious Puberty ◽  
Neurokinin B ◽  
Premature Thelarche ◽  
Idiopathic Central Precocious Puberty ◽  
Basal Serum
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