Article
Endocrinology & Metabolism
Marissa J. Kilberg, Maria G. Vogiatzi
Summary: Central precocious puberty (CPP) refers to early activation of the hypothalamic-pituitary-gonadal axis, with sexual development occurring before the age of 8 in girls and 9 in boys. The onset of thelarche has decreased over the past decades, but the progression of puberty can be slower and may not negatively impact adult height in girls who experience thelarche between 6-8 years. Advances in diagnosis and management include the use of ultrasensitive luteinizing hormone assay for testing and a better understanding of the genetic factors influencing puberty onset. Long-acting formulations of gonadotropin-releasing hormone analogs (GnRHas) have also improved the management of CPP. Limited data in boys and a lack of controlled studies hinder clinical care and clear practice guidelines for CPP.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Carlos Eduardo Seraphim, Ana Pinheiro Machado Canton, Luciana Montenegro, Maiara Ribeiro Piovesan, Delanie B. Macedo, Marina Cunha, Aline Guimaraes, Carolina Oliveira Ramos, Anna Flavia Figueiredo Benedetti, Andrea de Castro Leal, Priscila C. Gagliardi, Sonir R. Antonini, Mirta Gryngarten, Andrea J. Arcari, Ana Paula Abreu, Ursula B. Kaiser, Leandro Soriano-Guillen, Arancha Escribano-Munoz, Raquel Corripio, Jose Labarta, Lourdes Travieso-Suarez, Nelmar Valentina Ortiz-Cabrera, Jesus Argente, Berenice B. Mendonca, Vinicius N. Brito, Ana Claudia Latronico
Summary: Loss-of-function mutations in MKRN3 gene are the most common monogenic cause of familial central precocious puberty, affecting the clinical features and hormone levels of patients. Severe mutations may lead to advanced bone age maturation and higher gonadotropin levels.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Esra Kutlu, Ilker Tolga Ozgen, Huri Bulut, Abdurrahim Kocyigit, Hafize Otcu, Yasar Cesur
Summary: This study found that irisin levels were higher in patients with central precocious puberty compared to other groups, and irisin levels were positively correlated with several clinical and laboratory parameters. Peak LH was identified as the strongest independent predictive factor of irisin levels, followed by BMI-SDS.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Biochemistry & Molecular Biology
Young Suk Shim, Hae Sang Lee, Jin Soon Hwang
Summary: The Notch signaling pathway plays a role in regulating cell activities in multiple systems, including the hypothalamus. Recent studies have found that genetic mutations related to the Notch signaling pathway may be associated with central precocious puberty.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Endocrinology & Metabolism
Li Shi, Zhiyan Jiang, Li Zhang
Summary: This review provides an overview of the impact of childhood obesity on pubertal onset, focusing on signaling pathways and substances associated with obesity, and discusses the potential benefits of preventing obesity and central precocious puberty (CPP) in children, as well as potential strategies for treatment and prevention.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Flavia Rezende Tinano, Ana Pinheiro Machado Canton, Luciana R. Montenegro, Andrea de Castro Leal, Aline G. Faria, Carlos E. Seraphim, Raja Brauner, Alexander A. Jorge, Berenice B. Mendonca, Jesus Argente, Vinicius N. Brito, Ana Claudia Latronico
Summary: This study aimed to explore the genetic characteristics and prevalence of familial central precocious puberty (CPP) in a large multiethnic cohort. The results showed that the prevalence of familial CPP was estimated at 22%, with a similar frequency of maternal and paternal transmission. Patients with different modes of transmission of familial CPP showed similar clinical and hormonal features, as well as treatment response to GnRH analogs (GnRHa). MKRN3 and DLK1 loss-of-function mutations were the major causes of familial CPP with paternal transmission, accounting for 22% and 4% of the studied families, respectively. Rare variants of uncertain significance were identified in CPP families with maternal transmission.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Amanda Cleemann Wang, Casper P. Hagen, Trine Holm Johannsen, Andre Greger Madsen, Line Hartvig Cleemann, Peter Christiansen, Katharina M. Main, Anders Juul, Rikke Beck Jensen
Summary: Differentiation between girls with ICPP and PT can be supported by individual clinical and biochemical parameters. However, dimension reduction of clinical and hormonal profiles by PCA improved the diagnostic value, which in the future may support the diagnostic process as a supplement to the GnRH test in evaluation of pubertal disorders.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Daniela Fava, Andrea Calandrino, Maria Grazia Calevo, Anna Elsa Maria Allegri, Flavia Napoli, Roberto Gastaldi, Giuseppa Patti, Emilio Casalini, Marta Bassi, Andrea Accogli, Abdel Razaq Ahmad A. Alyasin, Antonia Ramaglia, Andrea Rossi, Mohamad Maghnie, Giovanni Morana, Natascia Di Iorgi
Summary: The study investigated the presence of brain abnormalities in girls diagnosed with central precocious puberty (CPP) and explored the relationship between maternal factors, age at diagnosis, clinical signs and symptoms, hormonal profiles, and neuroimaging findings. The results showed that less than half of the girls had a normal brain MRI, and a few had significant intracranial lesions after the age of 6, even without neurological signs.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Review
Endocrinology & Metabolism
Delia-Maria Nicoara, Alexandra-Cristina Scutca, Niculina Mang, Iulius Juganaru, Andrei-Ioan Munteanu, Luiza Vitan, Otilia Marginean
Summary: Prader-Willi syndrome is a rare genetic disorder with various effects on multiple systems, including endocrine, neurocognitive, and metabolic aspects. While most patients with Prader-Willi syndrome have hypogonadotropic hypogonadism, there are rare cases of precocious puberty. The aim of this study is to provide a comprehensive review of Prader-Willi patients with central precocious puberty, in order to increase awareness and improve diagnosis and treatment for these specific PWS patients.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Endocrinology & Metabolism
Joshua Moise-Silverman, Lawrence A. Silverman
Summary: Gonadotrophin dependent sexual precocity, known as central precocious puberty (CPP), refers to the premature reactivation of the hypothalamic-pituitary-gonadal (HPG) axis before the normal age of pubertal onset. Females are more likely to have idiopathic CPP, while males diagnosed with CPP have a higher chance of having a defined etiology. Genetic variants and mutations causing CPP have been identified recently at the hypothalamic and pituitary level.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Endocrinology & Metabolism
Maria Felicia Faienza, Flavia Urbano, Luigi Antonio Moscogiuri, Mariangela Chiarito, Stefania De Santis, Paola Giordano
Summary: The onset of pubertal development is controlled by a network of genes that regulate the release of GnRH and the increase of pituitary gonadotropins. Genetic and epigenetic changes, as well as environmental conditions, can anticipate or delay the onset of pubertal development. Recent studies suggest a central role of the epigenome in the regulation of genes in the hypothalamus and pituitary that affect the timing of puberty.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Pediatrics
Valentina Assirelli, Federico Baronio, Rita Ortolano, Giulio Maltoni, Stefano Zucchini, Valeria Di Natale, Alessandra Cassio
Summary: A new form of early puberty, known as T-CPP, characterized by partial activation of the HPG axis that normalizes over time, was identified in this study. An increased use of homeopathic medicines and exposure to environmental pollutants was observed in these patients.
ITALIAN JOURNAL OF PEDIATRICS
(2021)
Article
Medicine, General & Internal
Sommayya Aftab, Jaida Manzoor, Qaiser Mahmood, Tahir Shaheen
Summary: This retrospective study investigated children with precocious puberty at a children's hospital in Lahore and found both central and peripheral precocious puberty cases, with congenital adrenal hyperplasia being the most common underlying cause.
PAKISTAN JOURNAL OF MEDICAL SCIENCES
(2022)
Article
Endocrinology & Metabolism
Mei Li, Dan Lan, Yanfei Chen
Summary: Our study is the first to integrate proteomics and metabolomics to analyze the serum of girls with CPP and we found some key differential proteins and metabolites as well as a potential biomarker for this condition. Lipid metabolism pathways are involved and these may provide a key direction to further explore the molecular mechanisms and pathogenesis of CPP.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Ana Pereira, Alexander S. Busch, Fernanda Solares, Ingrid Baier, Camila Corvalan, Veronica Mericq
Summary: The study found an association between BMI and obesity with pubertal timing and precocious gonadarche in Chilean boys. As children grow, BMI, prevalence of total obesity, and central obesity all increased.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Cell Biology
Dogus Vuralli, E. Nazli Gonc, Z. Alev Ozon, Ayfer Alikasifoglu, Nurgun Kandemir
GROWTH HORMONE & IGF RESEARCH
(2017)
Article
Endocrinology & Metabolism
Atilla Cayir, Yasar Demirelli, Duran Yildiz, Hasan Kahveci, Oguzhan Yarali, Erdal Kurnaz, Dogus Vuralli, Huseyin Demirbilek
HORMONE RESEARCH IN PAEDIATRICS
(2019)
Review
Biochemistry & Molecular Biology
Huseyin Demirbilek, Sonya Galcheva, Dogus Vuralli, Sara Al-Khawaga, Khalid Hussain
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2019)
Article
Endocrinology & Metabolism
Dogus Vuralli, Ayfer Alikasifoglu, Irem Iyigun, Dicle Canoruc, Alev Ozon, Nazli Gonc, Nurgun Kandemir
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
(2020)
Article
Endocrinology & Metabolism
Dogus Vuralli, E. Nazli Gonc, Ayfer Alikasifoglu, Nurgun Kandemir, Z. Alev Ozon
ARCHIVES OF ENDOCRINOLOGY METABOLISM
(2020)
Review
Rheumatology
Ummusen Kaya Akca, Selman Kesici, Yasemin Ozsurekci, Hayrettin Hakan Aykan, Ezgi Deniz Batu, Erdal Atalay, Selcan Demir, Erdal Sag, Dogus Vuralli, Benan Bayrakci, Yelda Bilginer, Seza Ozen
RHEUMATOLOGY INTERNATIONAL
(2020)
Article
Genetics & Heredity
Dogus Vuralli, Can Kosukcu, Ekim Taskiran, Pelin Ozlem Simsek-Kiper, Gulen Eda Utine, Koray Boduroglu, Ayfer Alikasifoglu, Mehmet Alikasifoglu
MOLECULAR SYNDROMOLOGY
(2020)
Article
Endocrinology & Metabolism
Dogus Vuralli, Nazli E. Gonc, Zeynep Alev Ozon, Nurgun Kandemir, Ayfer Alikasifoglu
Summary: The study aimed to determine which girls with idiopathic CPP (iCPP) will benefit from GnRHa treatment in terms of height gain. The most important factor influencing height gain was the chronological age (CA) at treatment onset. Girls treated before 6.4 years of age showed significant height gain, while those treated after 8.3 years did not reach the target. Advanced bone age (BA), basal estradiol (E-2), and pubertal stage were significant factors affecting height gain in girls treated between 6.4 and 8.3 years, with all cases meeting certain criteria showing significant height gain.
CLINICAL ENDOCRINOLOGY
(2021)
Review
Endocrinology & Metabolism
Huseyin Demirbilek, Dogus Vuralli, Basma Haris, Khalid Hussain
Summary: Hypoglycaemia in diabetic patients is a common problem due to the imbalance between food intake and insulin injections. Improved insulin analogues and novel formulations of glucagon have helped in reducing and preventing hypoglycaemia. However, access to these technologies remains a challenge for many patients.
DIABETES METABOLIC SYNDROME AND OBESITY
(2023)
Article
Endocrinology & Metabolism
Dogus Vuralli, Nurdan Ciftci, Huseyin Demirbilek
Summary: This study aims to evaluate the serum levels of kisspeptin, neurokinin-B (NKB), anti-Mullerian hormone (AMH) and inhibin B (INHB) in girls with central precocious puberty (CPP) and assess their diagnostic validity. The results showed that serum levels of kisspeptin, NKB, and INHB were higher, while AMH levels were lower in girls with CPP compared to those with premature thelarche (PT) and prepubertal controls. These findings suggest that these peptides could be used as alternative parameters to distinguish CPP from PT.
CLINICAL ENDOCRINOLOGY
(2023)
Review
Pediatrics
Dogus Vuralli
INTERNATIONAL JOURNAL OF PEDIATRICS
(2019)