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
Kamila Botelho Fernandes de Souza, Melyna Shayanne Pessoa Veiga, Gabriela Raina Ferreira Martins, Adriana Paula da Silva, Livia Grimaldi Abud Fujita, Janaine Machado Tome, Heloisa Marcelina da Cunha Palhares, Maria de Fatima Borges
Summary: The study aims to determine the cutoff values of gonadotropin response to gonadotropin-releasing hormone analogs (GnRHas) that could differentiate central precocious puberty (CPP) from premature thelarche (PT) using the electrochemiluminescence assay method. The results suggest that LH concentrations above 4.29 IU/L at 60 minutes after stimulation may be the optimal parameter for distinguishing CPP from PT.
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Article
Medicine, General & Internal
Jinxia Wu, Jing Chen, Rong Huang, Hongwei Zhu, Lin Che, Yanyan Lin, Yajie Chang, Guiping Shen, Jianghua Feng
Summary: This study aimed to screen specific biomarkers of premature thelarche (PT) and central precocious puberty (CPP) and elucidate their underlying pathogenesis. The relationships between clinical phenotype, serum perfluorinated compounds (PFCs), and metabolic characteristics were explored. The results showed a similar disordered trend of pyruvate and butyrate metabolisms in PT and CPP. Specific biomarkers were screened for PT and CPP, and they exhibited good sensitivity for classification diagnosis. PFC exposure is associated with endocrine homeostasis imbalance and drives metabolic changes in CPP and PT.
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)
Review
Reproductive Biology
Mei Jiang, Ying Gao, Tiange Qu, Yuechen Ji, Yiwen Niu, Jiaxin Zhang, Ling Huang
Summary: This study aimed to investigate the relationship between serum levels of inhibin B (INHB), anti-mullerian hormone (AMH) and precocious puberty in girls. Through a meta-analysis of 11 studies, it was found that the INHB level was significantly increased in girls with precocious puberty, while there was no significant association with serum AMH levels. This suggests that INHB levels may serve as a marker for the auxiliary diagnosis of precocious puberty, especially central precocious puberty and premature thelarche.
JOURNAL OF OVARIAN RESEARCH
(2023)
Article
Endocrinology & Metabolism
Chin-Hui Tseng, Yann-Jinn Lee, Chi-Yu Huang, Yi-Lei Wu, Lu-Ting Wang, Chao-Hsu Lin, Bi-Wen Cheng, Fu-Sung Lo, Yu-Jun Chang, Wei-Hsin Ting
Summary: This study aimed to explore the impact of gonadotropin-releasing hormone agonists (GnRHa) on final adult height (FAH) in girls with early and fast puberty. The results showed that GnRHa treatment can restore the target height in some girls with poor height development, especially those with predicted adult height lower than 153 cm and shorter than their target height. Younger age at initiation of treatment and faster growth velocity during treatment are associated with better height gain.
FRONTIERS IN ENDOCRINOLOGY
(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
Mei Li, Yanfei Chen, Binrong Liao, Jing Tang, Jingzi Zhong, Dan Lan
Summary: This study evaluated the characteristics and significance of serum kisspeptin and MKRN3 levels for the diagnosis of central precocious puberty (CPP) in girls. Results showed that serum kisspeptin levels were higher in the CPP group compared to the normal control group, while serum MKRN3 levels were lower in both groups. However, these two measurements were not able to differentiate girls with CPP from those with premature thelarche and prepubertal control.
ENDOCRINE CONNECTIONS
(2021)
Article
Endocrinology & Metabolism
Teodoro Dura-Trave, Fidel Gallinas-Victoriano, Maria Malumbres-Chacon, Lotfi Ahmed-Mohamed, Maria Jesus Chueca-Guindulain, Sara Berrade-Zubiri
Summary: The study concluded that auxological characteristics are not sufficient to differentiate between prepubertal and pubertal status in 6-8 years old girls. However, a single basal LH sample showed high specificity and could be useful for diagnosing puberty in this age group, reducing the need for GnRH stimulation testing.
ENDOCRINE CONNECTIONS
(2021)
Article
Endocrinology & Metabolism
Yanfei Chen, Mei Li, Binrong Liao, Jingzi Zhong, Dan Lan
Summary: This study investigates the role of serum irisin level in the diagnosis of central precocious puberty (CPP) in girls and its major determinants. The results showed that girls with CPP had higher irisin levels, suggesting that irisin is involved in puberty. However, irisin level can only be used as an auxiliary indicator for CPP diagnosis due to its low sensitivity and specificity.
ENDOCRINE CONNECTIONS
(2022)
Review
Endocrinology & Metabolism
Nam Nhat Nguyen, Linh Ba Phuong Huynh, Minh Duc Do, Tien Yun Yang, Meng-Che Tsai, Yang-Ching Chen
Summary: This study analyzed 13 studies comparing pelvic ultrasonography parameters between PP and PT groups, finding significant differences in uterine length and other parameters between the two groups. A uterine length of 3.20 cm showed a sensitivity of 81.8% and specificity of 82.0%, serving as an effective indicator for differentiating PP from PT.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Rade Vukovic, Tatjana Milenkovic, Ivan Soldatovic, Sandra Pekic, Katarina Mitrovic, Sladjana Todorovic
Summary: The study evaluated the diagnostic accuracy of triptorelin-stimulated LH concentrations in girls with premature thelarche, finding that a LH concentration >= 3.4 IU/L at 180 min after stimulation demonstrated high accuracy for diagnosing CPP compared to the gold standard GnRH test.
Article
Medicine, General & Internal
Rihwa Choi, Aerin Kwon, Youngju Oh, Sang Gon Lee, Eun Hee Lee
Summary: The study investigated laboratory data for GnRH stimulation testing in Korean children and found that the time points of 45 minutes and 60 minutes after stimulation showed the best performance in identifying pubertal responses.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Pediatrics
Huihui Sun, Yi Qian, Naijun Wan, Lili Liu
Summary: During the COVID-19 pandemic, the differential diagnosis of idiopathic premature thelarche (IPT) and central precocious puberty (CPP) in girls aged 6 to 8 years was investigated. Predicted adult height (PAH) discrepancy was explored to guide appropriate diagnosis and treatment. Chinese girls with precocious puberty aged 6 to 8 years were recruited and divided into IPT and CPP groups. Clinical characteristics and differential diagnosis were analyzed, and risk factors for CPP were explored.
Article
Endocrinology & Metabolism
Yuzhen Shi, Ziyi Ma, Xi Yang, Yanqin Ying, Xiaoping Luo, Ling Hou
Summary: This study investigated the effectiveness and safety of combining GnRHa with rhGH in the treatment of girls with CPP. The results showed that the combination therapy produced better height gains, suppressed the gonadal axis, delayed bone age progression, and had good safety and efficacy.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Endocrinology & Metabolism
Stefano Cianfarani, Valentina Pampanini
Summary: The COVID-19 pandemic poses challenges to global health, with efforts from the scientific community shedding light on the pathogenetic mechanisms of SARS-CoV-2 infection and potential therapeutic strategies. However, the impact of social isolation and pandemic-related anxiety on mental and physical health remains poorly investigated.
HORMONE RESEARCH IN PAEDIATRICS
(2023)
Article
Medicine, Research & Experimental
David B. Dunger, Sylvaine F. A. Bruggraber, Adrian P. Mander, M. Loredana Marcovecchio, Timothy Tree, Piotr Jaroslaw Chmura, Mikael Knip, Anke M. Schulte, Chantal Mathieu
Summary: The INNODIA consortium has established an infrastructure to evaluate clinical data and identify biomarkers for future clinical trials in newly diagnosed type 1 diabetes. They have developed a master protocol to improve phase 2 studies, including standardized assessment, collection of mechanistic data, and evaluation of combination therapies.
Review
Nutrition & Dietetics
Elena Inzaghi, Valentina Pampanini, Annalisa Deodati, Stefano Cianfarani
Summary: Linear growth is a complex process regulated by genetics, epigenetics, and environment. Nutrition plays a crucial role in growth, mediated by hormonal signals. Deficiency in nutrients can impair growth, and abnormal nutritional status can affect growth patterns.
Letter
Endocrinology & Metabolism
Riccardo Schiaffini, Annalisa Deodati, Novella Rapini, Valentina Pampanini, Stefano Cianfarani
Summary: In 2021, there was an overall increase (22% to 35%) in the incidence of type 1 diabetes compared to the years 2017 to 2020. A peak in incidence was observed in the last four months of 2021, coinciding with the fourth wave of COVID-19 in Italy. In the last quarter of 2021, there was a significant increase in the incidence of type 1 diabetes among children under the age of 12. The speculation is that SARS-CoV-2 infection may have contributed to this increase, especially in age groups not protected by vaccination.
JOURNAL OF DIABETES
(2022)
Article
Endocrinology & Metabolism
S. Cannavo, M. Cappa, D. Ferone, A. M. Isidori, S. Loche, M. Salerno, M. Maghnie
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Review
Endocrinology & Metabolism
Anita C. S. Hokken-Koelega, Manouk van der Steen, Margaret C. S. Boguszewski, Stefano Cianfarani, Jovanna Dahlgren, Reiko Horikawa, Veronica Mericq, Robert Rapaport, Abdullah Alherbish, Debora Braslavsky, Evangelia Charmandari, Steven D. Chernausek, Wayne S. Cutfield, Andrew Dauber, Asma Deeb, Wesley J. Goedegebuure, Paul L. Hofman, Elvira Isganatis, Alexander A. Jorge, Christina Kanaka-Gantenbein, Kenichi Kashimada, Vaman Khadilkar, Xiao-Ping Luo, Sarah Mathai, Yuya Nakano, Mabel Yau
Summary: This International Consensus Guideline, developed by experts from 10 pediatric endocrine societies worldwide, provides new insights into the causes and consequences of short stature after SGA birth. It also offers recommendations for accurate diagnosis, early follow-up, and appropriate treatment options. The guideline emphasizes the importance of genetic testing and counseling, as well as promoting a healthy lifestyle for young adults born SGA.
Article
Endocrinology & Metabolism
Anders Juul, Philippe Backeljauw, Marco Cappa, Alberto Pietropoli, Nicky Kelepouris, Agnes Linglart, Roland Pfaeffle, Mitchell Geffner
Summary: This study aimed to assess the impact of patient age at growth hormone (GH) therapy initiation on long-term growth outcomes and safety in short children born small for gestational age (SGA).
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Review
Endocrinology & Metabolism
Stefano Cianfarani, Tadej Battelino
Summary: Novel and innovative therapeutic options are now available or will soon become available for children and adolescents with endocrine disorders and diabetes. While some of these treatments have shown effectiveness and safety in adults, their use and long-term effects in children are still limited and raise caution.
HORMONE RESEARCH IN PAEDIATRICS
(2023)
Article
Endocrinology & Metabolism
Valeria Hasenmajer, Rosario Ferrigno, Marianna Minnetti, Bianca Pellegrini, Andrea M. Isidori, Andrea Lenzi, Mariacarolina Salerno, Marco Cappa, Li Chan, Maria Cristina De Martino, Martin O. Savage
Summary: Adrenal insufficiency is a severe endocrine disorder characterized by insufficient secretion of glucocorticoid and/or mineralocorticoid due to impaired adrenal function or inadequate adrenal stimulation. This review focuses on rare genetic causes of primary adrenal insufficiency with isolated glucocorticoid or combined glucocorticoid and mineralocorticoid deficiencies, as well as rare syndromes of isolated mineralocorticoid deficiency. The diagnosis of these rare genetic forms of pediatric adrenal insufficiency is challenging due to their clinical heterogeneity and rarity, and this review aims to provide an overview of their genetic and clinical features, as well as diagnostic and therapeutic approaches.
REVIEWS IN ENDOCRINE & METABOLIC DISORDERS
(2023)
Article
Biochemistry & Molecular Biology
Alessia Aureli, Rosanna Recupero, Michela Mariani, Melania Manco, Francesco Carlomagno, Sarah Bocchini, Mirella Nicodemo, Maria Rosaria Marchili, Stefano Cianfarani, Marco Cappa, Danilo Fintini
Summary: This study reveals the association between vitamin B12 levels and body mass index, visceral adiposity, and metabolic health in children, adolescents, and young adults.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Correction
Endocrinology & Metabolism
Novella Rapini, Patrizia I. Patera, Riccardo Schiaffini, Paolo Ciampalini, Valentina Pampanini, Matteoli M. Cristina, Annalisa Deodati, Giorgia Bracaglia, Ottavia Porzio, Rosario Ruta, Antonio Novelli, Mafalda Mucciolo, Stefano Cianfarani, Fabrizio Barbetti
ACTA DIABETOLOGICA
(2023)
Article
Endocrinology & Metabolism
Novella Rapini, Patrizia Patera, Riccardo Schiaffini, Paolo Ciampalini, Valentina Pampanini, Matteoli M. Cristina, Annalisa Deodati, Giorgia Bracaglia, Ottavia Porzio, Rosario Ruta, Antonio Novelli, Mafalda Mucciolo, Stefano Cianfarani, Fabrizio Barbetti
Summary: In the pediatric diabetes clinic, establishing a monogenic diabetes clinic has been found to improve diagnostic pipelines and provide tailored care for patients with monogenic diabetes, which accounts for 6% of cases.
ACTA DIABETOLOGICA
(2023)
Meeting Abstract
Endocrinology & Metabolism
Novella Rapini, Patrizia Ippolita Patera, Riccardo Schiaffini, Paolo Ciampalini, Valentina Pampanini, Maria Cristina Matteoli, Annalisa Deodati, Giorgia Bracaglia, Ottavia Porzio, Antonio Novelli, Mafalda Mucciolo, Stefano Cianfarani, Fabrizio Barbetti
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Meeting Abstract
Endocrinology & Metabolism
Giulia Tattesi, Annalisa Deodati, Elena Inzaghi, Maria Elisa Amodeo, Carla Bizzarri, Marco Cappa, Stefano Cianfarani
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Meeting Abstract
Endocrinology & Metabolism
Maria Elisa Amodeo, Annalisa Deodati, Giulia Mirra, Giulia Tattesi, Stefano Cianfarani
HORMONE RESEARCH IN PAEDIATRICS
(2022)