Identifying the role of RUNX2 in bone development through network analysis in girls with central precocious puberty

2021 ◽  
Author(s):  
Doo Seok Kang ◽  
Hye Jin Lee ◽  
Young Rok Seo ◽  
Cheol Min Lee ◽  
Il Tae Hwang
Keyword(s):  
Network Analysis ◽  
Precocious Puberty ◽  
Bone Development ◽  
Central Precocious Puberty

scholarly journals New Causes of Central Precocious Puberty: The Role of Genetic Factors

2014 ◽  
Vol 100 (1) ◽  
pp. 1-8 ◽  
Author(s):  
Delanie Bulcao Macedo ◽  
Vinicius Nahime Brito ◽  
Ana Claudia Latronico
Keyword(s):  
Precocious Puberty ◽  
Genetic Factors ◽  
Central Precocious Puberty

Role of surgical resection in the treatment of hypothalamic hamartomas causing precocious puberty

1998 ◽  
Vol 88 (2) ◽  
pp. 340-345 ◽  
Author(s):  
Laura Stewart ◽  
Paul Steinbok ◽  
Jorge Daaboul
Keyword(s):  
Precocious Puberty ◽  
Growth Velocity ◽  
Central Precocious Puberty ◽  
Bone Age ◽  
Total Resection ◽  
Content Type ◽  
Follow Up Care ◽  
Fine Print

✓ Hypothalamic hamartomas (HHs) are benign tumors that are often associated with central precocious puberty. Resection of HHs has been recommended as a treatment option for selected cases of pedunculated lesions, especially in young children. The role of surgery has to be evaluated in the light of the availability of effective medical treatment with gonadotropin-releasing hormone analogs (GnRHas). The authors report the long-term results of total resection of HHs in two children with central precocious puberty and compare it with medical management in four children. The two surgically treated patients underwent total resection of pedunculated HHs at 1.75 (Case 1) and 3.25 years (Case 2) and have received follow-up care for 9 and 8 years, respectively. There were no postoperative complications and computerized tomography scanning confirmed complete tumor removal in both patients. Both patients subsequently experienced some regression of secondary sexual characteristics. The response of luteinizing hormone to GnRH became prepubertal in one patient and was diminished in the other. However, the growth velocity remained elevated (> 7 cm/year), bone age remained advanced (> +2 standard deviations) 5 years after surgery, decreasing adult height prediction. In one child, GnRHa therapy was initiated 7 years postsurgery. Four children were treated solely with GnRH agonists and have received follow-up care for 2.3, 6, 9, and 9 years, respectively. These patients have had a complete regression of endocrinological abnormalities, including a normalization of growth velocity and reduction in the rate of skeletal maturation. No side effects were noted with decapeptyl treatment, and one child developed sterile abscesses while receiving Lupron-Depot. The proven efficacy of GnRHa in suppressing puberty and reducing bone age advancement leads the authors to advise against surgery as the initial management of central precocious puberty caused by HHs.

scholarly journals The role of kisspeptin and MKRN3 in the diagnosis of central precocious puberty in girls

2021 ◽  
Author(s):  
Mei Li ◽  
Yanfei Chen ◽  
Binrong Liao ◽  
Jing Tang ◽  
Jingzi Zhong ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Central Precocious Puberty ◽  
Serum Levels ◽  
Premature Thelarche ◽  
Physical Measurements ◽  
Serum Lh ◽  
Sexual Characteristics ◽  
Biochemical Measurements ◽  
Gonadotrophin Releasing Hormone

Objective: To evaluate the characteristics and significance of serum kisspeptin and MKRN3 levels for the diagnostic of central precocious puberty (CPP) in girls. Method: 34 individuals with CPP, 17 individuals with premature thelarche (PT) and 28 age-matched prepubertal girls as normal control (NC) were recruited in this case-control study. Physical measurements included of body mass index and tests for breast, bone and sexual characteristics were carried out. Biochemical measurements included serum LH, FSH, estradiol, insulin-like growth factor-1, MKRN3 and kisspeptin. Blood samples were taken from individuals with CPP and PT before the gonadotrophin-releasing hormone stimulation test and at 30, 60, 90 and 120min after injection with triptorelin. Results: Serum kisspeptin levels were higher in the CPP group when compared to the NC group (P=0.020), while serum MKRN3 levels lower in the two groups (P=0.028). There were no significant differences between the CPP and PT groups as well as the PT and NC groups (all, P<0.05). The cut-off value of serum kisspeptin differentiating patients with CPP from those without CPP was 0.40nmol/L, with 82.4% sensitivity and 57.1% specificity; while the cut-off value of serum MKRN3 was 0.33pmol/L, with 79.4% sensitivity and 53.6% specificity. The area under the curves (AUCs) of both kisspeptin and MKRN3 for differentiating those girls with CPP from PT were less than 0.5. Conclusions: Serum levels of kisspeptin and MKRN3 may play an auxiliary role in predicting CPP. However, the two measurements were not able to differentiate girls with CPP from PT and prepubertal control. This study emphasizes the need to search for markers to simplify the accurate diagnosis of CPP in girls.

scholarly journals Central Precocious Puberty in Boys and Girls: Similarities and Differences

Sexes ◽  
2021 ◽  
Vol 2 (1) ◽  
pp. 119-131
Author(s):  
Cristina Mucaria ◽  
Nina Tyutyusheva ◽  
Giampiero I. Baroncelli ◽  
Diego Peroni ◽  
Silvano Bertelloni
Keyword(s):  
Precocious Puberty ◽  
Central Precocious Puberty ◽  
Bone Age ◽  
Gnrh Analog ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
The Central Nervous System

Central precocious puberty (CPP) is due to the premature activation of the hypothalamic–pituitary–gonadal axis, which is responsible for the appearance of secondary sexual characteristics. It occurs before the age of 8 and 9 in girls and boys, respectively. CPP shows higher incidence in females than in males. Causes of CPP are similar in both sexes, but the idiopathic form is more frequent in girls, while organic forms are more frequent in males. Recent studies demonstrated a role of some genetic variants in the pathogenesis of CPP. The diagnostic evaluation based on accurate physical examination, assessment of the pituitary–gonadal axis, pelvic sonography in girls, and determination of bone age. Magnetic resonance of the central nervous system should be done in all boys and selected girls. Since the 1980s, pharmacologic treatment involves the use of gonadotropin-releasing hormone (GnRH) analogs. These drugs are characterized by few side effects and long-term safety. Many data are available on the outcome of GnRH analog treated female patients, while poor data are reported in boys. Adult height is improved in both sexes.

scholarly journals GENETICS IN ENDOCRINOLOGY: Genetic etiologies of central precocious puberty and the role of imprinted genes

2020 ◽  
Vol 183 (4) ◽  
pp. R107-R117
Author(s):  
Stephanie A Roberts ◽  
Ursula B Kaiser
Keyword(s):  
Precocious Puberty ◽  
Pubertal Timing ◽  
Association Studies ◽  
Hypogonadotropic Hypogonadism ◽  
Central Precocious Puberty ◽  
Imprinted Genes ◽  
Genome Wide Association Studies ◽  
Early Puberty ◽  
Imprinted Gene

Pubertal timing is regulated by the complex interplay of genetic, environmental, nutritional and epigenetic factors. Criteria for determining normal pubertal timing, and thus the definition of precocious puberty, have evolved based on published population studies. The significance of the genetic influence on pubertal timing is supported by familial pubertal timing and twin studies. In contrast to the many monogenic causes associated with hypogonadotropic hypogonadism, only four monogenic causes of central precocious puberty (CPP) have been described. Loss-of-function mutations in Makorin Ring Finger Protein 3(MKRN3), a maternally imprinted gene on chromosome 15 within the Prader–Willi syndrome locus, are the most common identified genetic cause of CPP. More recently, several mutations in a second maternally imprinted gene, Delta-like noncanonical Notch ligand 1 (DLK1), have also been associated with CPP. Polymorphisms in both genes have also been associated with the age of menarche in genome-wide association studies. Mutations in the genes encoding kisspeptin (KISS1) and its receptor (KISS1R), potent activators of GnRH secretion, have also been described in association with CPP, but remain rare monogenic causes. CPP has both short- and long-term health implications for children, highlighting the importance of understanding the mechanisms contributing to early puberty. Additionally, given the role of mutations in the imprinted genes MKRN3 and DLK1 in pubertal timing, other imprinted candidate genes should be considered for a role in puberty initiation.

scholarly journals Role of GnRH stimulation test in prediction of a neurogenic aetiology in girls with central precocious puberty

2021 ◽  
Vol 8 (1) ◽  
pp. 57-61
Author(s):  
Saravana Bhavan ◽  
Hemchand Krishna Prasad ◽  
Anupama Sankaran ◽  
Vijaykumar P Govindram ◽  
C V Ravisekar ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Central Precocious Puberty ◽  
Stimulation Test

scholarly journals Transient Central Precocious Puberty: a new entity among the spectrum of Precocious Puberty?

2021 ◽  
Author(s):  
Valentina Assirelli ◽  
Federico Baronio ◽  
Rita Ortolano ◽  
Giulio Maltoni ◽  
Stefano Zucchini ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Clinical Care ◽  
Central Precocious Puberty ◽  
Environmental Data ◽  
Gnrh Analogue ◽  
Partial Activation ◽  
Group 3 ◽  
Group 2 ◽  
Group 1

Abstract Objective The aim of this study is to evaluate clinical, hormonal and ultrasound features in girls with precocious puberty (PP). Methods 96 girls referred to our center for PP between 1st January 2007 and 31th December 2017 fulfilled inclusion criteria and were recruited for the study. 3 groups of patients were considered. Group 1: 56 subjects with Central PP (CPP) requiring treatment with GnRH analogue; Group 2: 22 subjects characterized by some criteria of CPP without indication to treatment, “Transient CPP”(T-CPP); Group 3: 18 subjects with Isolated Thelarche (IT). A questionnaire about anamnestic and environmental data was provided to patients which were followed through normal clinical care. Results an increase in Groups 2 and 3 diagnosis was observed over the years. LH peak (UI/ml) at diagnosis was higher in Group 1 vs Group 2 (11.7 ± 7.8 vs 4.58 ± 1.60)(p < 0.001) and 3 (11.7 ± 7.9 vs 2.18 ± 1.15)(p < 0.001) and also in Group 2 vs Group 3 (4.58 ± 1.6 vs 2.18 ± 1.1)(p < 0.05). At 6–12 months, LH peak of Group 2 was lower (2.35 ± 1.3) compared with diagnosis data (4.58 ± 1.60)(p < 0.05). Uterine Longitudinal Diameter (ULD) (mm) was longer in Group 1 (42.53 ± 6.26) vs Group 2 (36.54 ± 4.86)(p < 0.001) and 3 (30.70 ± 4.74)(p < 0.001), and this difference is also found between Group 2 and 3 (p < 0.005). Potential exposure to herbicides and pesticides was reported in 17.5% in Group 2 vs 12.5% in Group 1 (p < 0.001). Conclusions This study seemed to indicate an increase in diagnosis of T-CPP and IT cases. To our knowledge, this is the first report of a form defined as T-CPP, characterized by a partial activation in the HPG axis normalizing over time. As for environmental factors, we indirectly evaluated the role of some endocrine disruptors (EDCs) affecting pubertal axis activation, without leading to a complete maturation.

scholarly journals Potential metabolic mechanism of girls' central precocious puberty: a network analysis on urine metabonomics data

2012 ◽  
Vol 6 (Suppl 3) ◽  
pp. S19 ◽  
Author(s):  
Linlin Yang ◽  
Kailin Tang ◽  
Ying Qi ◽  
Hao Ye ◽  
Wenlian Chen ◽  
...  
Keyword(s):  
Network Analysis ◽  
Precocious Puberty ◽  
Central Precocious Puberty ◽  
Metabolic Mechanism

scholarly journals Case Report of Central Precocious Puberty in a Female: Role of Environmental Pollutants?

2020 ◽  
Vol 13 ◽  
pp. 117954762093358
Author(s):  
Asma Helyaich ◽  
Rabiy Elqadiry ◽  
Karima El Fakiri ◽  
Nourreddine Rada ◽  
Ghizlane Draiss ◽  
...  
Keyword(s):  
Case Report ◽  
Precocious Puberty ◽  
Environmental Pollutants ◽  
Central Precocious Puberty ◽  
Endocrine Disrupting Compounds ◽  
Breast Development ◽  
Pediatric Endocrinology ◽  
Endocrine Disrupting ◽  
Stimulation Of

A 5-year-old girl was brought to Department of Pediatric Endocrinology and Diabetes for premature breast development since 4 months. Her medical antecedents and family history were uneventful. From investigations she was diagnosed as a case of central precocious puberty. Identification of pesticides in farms surrounding their house indicates that this early stimulation of the hypothalamic-pituitary-gonadal axis was linked to the estrogen-like activity of endocrine-disrupting compounds.

scholarly journals Role of surgical resection in the treatment of hypothalamic hamartomas causing precocious puberty

1997 ◽  
Vol 3 (6) ◽  
pp. E2
Author(s):  
Laura Stewart ◽  
Paul Steinbok ◽  
Jorge Daaboul
Keyword(s):  
Precocious Puberty ◽  
Growth Velocity ◽  
Central Precocious Puberty ◽  
Bone Age ◽  
Long Term Results ◽  
Total Resection ◽  
Hypothalamic Hamartomas ◽  
Follow Up Care

Hypothalamic hamartomas (HHs) are benign tumors that are often associated with central precocious puberty. Resection of HHs has been recommended as a treatment option for selected cases of pedunculated lesions, especially in young children. The role of surgery has to be evaluated in the light of the availability of effective medical treatment with gonadotropin-releasing hormone analogs (GnRHas). The authors report the long-term results of total resection of HHs in two children with central precocious puberty and compare it with medical management in four children. The two surgically treated patients underwent total resection of pedunculated HHs at 1.75 (Case 1) and 3.25 years (Case 2) and have received follow-up care for 9 and 8 years, respectively. There were no postoperative complications and computerized tomography scanning confirmed complete tumor removal in both patients. Both patients subsequently experienced some regression of secondary sexual characteristics. The response of luteinizing hormone to GnRH became prepubertal in one patient and was diminished in the other. However, the growth velocity remained elevated (gt 7 cm/year), bone age remained advanced (gt +2 standard deviations) 5 years after surgery, decreasing adult height prediction. In one child, GnRHa therapy was initiated 7 years postsurgery. Four children were treated solely with GnRH agonists and have received follow-up care for 2.3, 6, 9, and 9 years, respectively. These patients have had a complete regression of endocrinological abnormalities, including a normalization of growth velocity and reduction in the rate of skeletal maturation. No side effects were noted with decapeptyl treatment, and one child developed sterile abscesses while receiving Lupron-Depot. The proven efficacy of GnRHa in suppressing puberty and reducing bone age advancement leads the authors to advise against surgery as the initial management of central precocious puberty caused by HHs.

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