Review
Pediatrics
Wayne Cutfield, Ahila Ayyavoo
Summary: 'Small for Gestational Age' (SGA) refers to children born with low birth weight and/or short birth length, most of whom experience catch-up growth within 6 months of age. Treatment with recombinant human growth hormone (rhGH) can help SGA children achieve normal adult height, although they may still face long-term consequences such as insulin resistance, abdominal fat accumulation, and metabolic disorders.
INDIAN JOURNAL OF PEDIATRICS
(2021)
Review
Endocrinology & Metabolism
Martin O. Savage, Helen L. Storr
Summary: Idiopathic short stature (ISS) is a term used for short children without a known cause; research on GH resistance is important for potentially misclassified children with mild GH resistance.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Gajanthan Muthuvel, Andrew Dauber, Eirene Alexandrou, Leah Tyzinski, Melissa Andrew, Vivian Hwa, Philippe Backeljauw
Summary: This study aimed to evaluate the efficacy and safety of recombinant human growth hormone (rhGH) therapy for linear growth in children with ACAN deficiency. The results showed that rhGH treatment improved linear growth in these patients and no adverse events related to rhGH were observed.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Lukas Plachy, Shenali Anne Amaratunga, Petra Dusatkova, Klara Maratova, Vit Neuman, Lenka Petruzelkova, Dana Zemkova, Barbora Obermannova, Marta Snajderova, Stanislava Kolouskova, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova
Summary: The genetic etiology of short stature in children with diagnosed growth hormone deficiency (GHD) was studied. It was found that the primary cause of short stature in these children was growth plate disorders, not deficiency in growth hormone.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Pediatrics
Gianluca Tamaro, Mariagrazia Pizzul, Giuliana Gaeta, Raffaella Servello, Marina Trevisan, Patricia Bohm, Paola Manera Ada Materassi, Anna Macaluso, Denis Valentini, Maria Chiara Pellegrin, Egidio Barbi, Gianluca Tornese
Summary: This study investigated the prevalence of short children born small for gestational age (SGA) who qualify for recombinant human growth hormone (rhGH) treatment in an Italian population. The results showed a low prevalence of SGA children eligible for GH treatment at 4 years of age, with a lower height SDS at 4 years than expected.
ITALIAN JOURNAL OF PEDIATRICS
(2021)
Article
Medicine, General & Internal
Su Jin Kim, Min-Sun Kim, Sung Yoon Cho, Byung-Kyu Suh, Cheol Woo Ko, Kee-Hyoung Lee, Han-Wook Yoo, Choong Ho Shin, Jin Soon Hwang, Ho-Seong Kim, Woo Yeong Chung, Chan Jong Kim, Heon-Seok Han, Dong-Kyu Jin
Summary: The study demonstrates that the change in annualized height velocity with Growtropin-II treatment is non-inferior to that with Genotropin treatment in children with short stature born small for gestational age. Growtropin-II is well-tolerated, and has a safety profile comparable with that of Genotropin over a 1-year course of treatment.
Article
Medicine, General & Internal
Ana-Belen Ariza-Jimenez, Isabel Leiva Gea, Maria Jose Martinez-Aedo Ollero, Juan Pedro Lopez-Siguero
Summary: The study found that patients with isolated growth hormone deficiency (IGHD) and idiopathic short stature (ISS) who received growth hormone treatment had similar final heights, with treated groups being taller than untreated groups.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Endocrinology & Metabolism
Huahong Wu, Yang Li, Hui Li
Summary: This study analyzed the prevalence of BDA3 in children with short stature and its effect on GH therapy. The results showed that BDA3 is more common in the short stature group, with a predominance in females. BDA3 occurrence is independent of the GH pathway and does not affect the therapeutic effect of GH on short stature children.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Hyun Wook Chae, Il-Tae Hwang, Ji-Eun Lee, Cheol Hwan So, Young-Jun Rhie, Jung Sub Lim, Eun Byul Kwon, Kyung Hee Yi, Eun Young Kim, Chae-Ku Jo, Kye Shik Shim, Ha-Yeong Gil, Min-Jeong Seong, Chung Mo Nam, Ji-Su Moon, Jin Soon Hwang
Summary: This study aimed to investigate the height development of ISS patients in Korea who received GH treatment. The study found that starting treatment at an early age and using automatic pen or electronic devices can increase the likelihood of reaching the target height.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Pediatrics
Varuna Vyas, Ram K. Menon
Summary: Growth hormone (GH) plays a crucial role in somatic growth and height increase in children. Its recombinant form has increased availability for treatment, but should only be used for established and approved indications. Before treatment, families should be counseled on treatment goals, costs, and potential adverse effects.
INDIAN JOURNAL OF PEDIATRICS
(2021)
Article
Endocrinology & Metabolism
Lukas Plachy, Petra Dusatkova, Klara Maratova, Lenka Petruzelkova, Lenka Elblova, Stanislava Kolouskova, Marta Snajderova, Barbora Obermannova, Dana Zemkova, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova
Summary: Collagens, the most abundant proteins in the human body, can cause syndromic disorders such as short stature when gene defects occur. Collagenopathies were found in 11.5% of familial short stature children, with improvements in growth velocity and height observed after GH treatment.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Afiya Andrews, Avinaash Maharaj, Emily Cottrell, Sumana Chatterjee, Pratik Shah, Louise Denvir, Katja Dumic, Artur Bossowski, Talat Mushtaq, Rade Vukovic, Mohamed Didi, Nick Shaw, Louise A. Metherell, Martin O. Savage, Helen L. Storr
Summary: Genetic characterization of 149 short stature patients suspected of Growth Hormone Insensitivity (GHI) revealed diagnoses in 54% of cases, with 56% having known GH-IGF-I axis defects and 44% having other genetic disorders. This highlights the diverse etiology of GHI and the importance of detailed clinical and genetic assessment in undiagnosed short stature cases.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Medical Laboratory Technology
Huiping Wu, Chaoban Wang, Shiwen Yu, Xiaojun Ye, Yalan Jiang, Pingping He, Xiaoou Shan
Summary: This study reported four new mutations in ACAN and investigated their association with the GH pathway. Bioinformatics analysis revealed the expression and biological processes enrichment of ACAN and GH pathways. The results showed that ACAN is strongly associated with the GH pathway and regulates the response to GH. This study provides insights into the potential mechanism underlying GH-targeted treatment for ACAN mutation-induced short stature.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2023)
Article
Endocrinology & Metabolism
Jong Seo Yoon, Young Jun Seo, Eun Byul Kwon, Hye Jin Lee, Min Jae Kang, Il Tae Hwang
Summary: This study evaluated the association between serum UA levels and height SDS in patients with ISS during GH therapy. The results showed a positive correlation between UA and height SDS, and GH treatment led to a significant increase in UA levels.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Marianne Becker, Muriel Thomas, Cecile Brachet, Claudine Heinrichs, Hilde Dotremont, Jean De Schepper, Philippe Lysy, Dominique Beckers
Summary: A study found that a substantial proportion of SGA patients have a syndrome underlying their growth restriction, making it difficult to determine the response to rhGH therapy. Analysis of a cohort of SGA patients revealed that syndromic SGA patients were younger, shorter, and thinner at the start of rhGH treatment compared to non-syndromic patients. Syndromic SGA patients also showed lower height gain during rhGH therapy compared to non-syndromic patients.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Neurosciences
Patricia Rivera, Santiago Guerra-Cantera, Antonio Vargas, Francisca Diaz, Rocio Garcia-Ubeda, Ruben Tovar, Maria Teresa Ramirez-Lopez, Jesus Argente, Fernando Rodriguez de Fonseca, Juan Suarez, Julie A. Chowen
Summary: This study aimed to investigate the long-lasting effects of maternal malnutrition during gestation/lactation on inflammation, lipid metabolism, and endocannabinoid signaling in the adult offspring hypothalamus, as well as the role of hypothalamic astrocytes in these changes. The results showed that maternal malnutrition caused sex-specific alterations in hypothalamic endocannabinoid signaling and lipid metabolism. Additionally, hypothalamic astrocytes were found to play a possible role in this process.
NUTRITIONAL NEUROSCIENCE
(2022)
Article
Cell Biology
Vicente Barrios, Elena Lopez-Villar, Laura M. Frago, Sandra Canelles, Francisca Diaz-Gonzalez, Emma Burgos-Ramos, Gema Fruehbeck, Julie A. Chowen, Jesus Argente
Summary: The central actions of leptin and insulin on hepatic lipid metabolism may be opposing, with the GH axis playing an important role in these effects. Leptin treatment led to an increase in hepatic lipolysis and a decrease in serum NEFA and triglyceride levels, while insulin treatment normalized these levels through activation of the GH axis.
Review
Endocrinology & Metabolism
Leandro Soriano-Guillen, Manuel Tena-Sempere, Carlos E. Seraphim, Ana C. Latronico, Jesus Argente
Summary: Puberty is a crucial biological process involving sexual and somatic maturation, regulated by genetic, endogenous, and environmental factors. Recent research has revealed the essential roles of kisspeptins and neurokinin B in modulating the signaling pathways of pubertal maturation, as well as the effects of melanocortins and metabolic sensors. Precocious puberty, primarily affecting females, can be caused by alterations in the central nervous system and genetic mutations, such as those in the MKRN3 gene. Understanding the genotype-phenotype relationship in patients with precocious puberty is important for further research.
JOURNAL OF NEUROENDOCRINOLOGY
(2022)
Article
Nutrition & Dietetics
Walter Mihatsch, Izaskun Dorronsoro Martin, Vicente Barrios-Sabador, Maria L. Couce, Gabriel A. Martos-Moreno, Jesus Argente, Jose Quero, Miguel Saenz de Pipaon
Summary: This study evaluated the long-term growth and metabolic health outcomes in very low birth weight infants compared to term infants, with a focus on weight gain during the hospital stay and its impact on later bone density, growth, and metabolic health. The findings suggest that premature infants may have slower growth and bone mineralization compared to full-term infants, with potential implications for long-term health outcomes.
Article
Biochemistry & Molecular Biology
Vicente Barrios, Santiago Guerra-Cantera, Alvaro Martin-Rivada, Sandra Canelles, Ana Campillo-Calatayud, Eduardo Arilla-Ferreiro, Laura M. Frago, Julie A. Chowen, Jesus Argente
Summary: Leptin is involved in regulating insulin signaling and lipid metabolism in peripheral tissues. This study found that leptin activates insulin signaling and reduces muscle inflammation parameters, while decreasing the levels of non-esterified fatty acids.
Review
Endocrinology & Metabolism
Vinicius N. Brito, Ana P. M. Canton, Carlos Eduardo Seraphim, Ana Paula Abreu, Delanie B. Macedo, Berenice B. Mendonca, Ursula B. Kaiser, Jesus Argente, Ana Claudia Latronico
Summary: The etiology of central precocious puberty (CPP) is diverse, including congenital and acquired causes, with associations to structural and functional brain alterations. All causes of CPP lead to premature secretion of hypothalamic GnRH, resulting in premature reactivation of the hypothalamic-pituitary-gonadal axis. Excitatory factors and inhibitory factors play important roles in the mechanisms of CPP, which are delicately balanced. Hypothalamic hamartoma is the most well-known congenital cause of CPP, and genetic and epigenetic factors have been found to be influential in the etiology of CPP.
Review
Biochemistry & Molecular Biology
Maria E. Casado, Roberto Collado-Perez, Laura M. M. Frago, Vicente Barrios
Summary: Excess body weight is often associated with low-grade inflammation, and evidence suggests a relationship between obesity and various diseases, including cancer and diabetes. Leptin, a hormone mainly produced by adipose tissue, plays a role in energy metabolism, neuroprotection, and regulation of peripheral tissues. Resistance to leptin can be related to neurological disorders and compromise its actions. This review discusses recent advances in understanding the molecular mechanisms of leptin and its potential implications for disease treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Dermatology
Antonio Torrelo, Laura Pericet, Isabel Hernandez-Surmann, Gabriel Martos, Ana Mateos-Mayo, Lucero Noguera-Morel, Angela Hernandez-Martin, Jesus Argente, Isabel Colmenero
JOURNAL OF CUTANEOUS PATHOLOGY
(2023)
Review
Endocrinology & Metabolism
Jesus Argente, Leo Dunkel, Ursula B. Kaiser, Ana C. Latronico, Alejandro Lomniczi, Leandro Soriano-Guillen, Manuel Tena-Sempere
Summary: Puberty, a major maturational event, is determined by genetic factors and influenced by endogenous and environmental cues. Research progress has been made in understanding the neuroendocrine networks governing puberty, but the precise timing and mechanisms of puberty and its alterations are still being deciphered. This review provides a comprehensive overview of the physiological basis of puberty, including the roles of kisspeptins and other central transmitters, the underlying molecular and endocrine mechanisms, and the pathways involved in pubertal modulation. Molecular features of precocious and delayed puberty are also summarized. The review highlights the need for further research in this active field of endocrinology.
LANCET DIABETES & ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Maria Guemes, Alvaro Martin-Rivada, Marta Bascuas Arribas, Eva Maria Andres-Esteban, Blanca Molina Angulo, Jesus Pozo Roman, Jesus Argente
Summary: More than half of children surviving HSCT will develop endocrinopathies, with obesity being the third most frequent endocrine disruption, mainly due to steroids. Lymphoblastic leukemia is the condition with the highest rate of endocrine abnormalities. Female sex, older age at HSCT, pubertal stage, allogenic transplant, radiotherapy, alkylating drugs, and graft-vs-host disease pose risk factors for endocrine disturbances.
JOURNAL OF THE ENDOCRINE SOCIETY
(2022)
Article
Biochemistry & Molecular Biology
Maria E. Casado, Sandra Canelles, Eduardo Arilla-Ferreiro, Laura M. M. Frago, Vicente Barrios
Summary: Leptin can regulate lipid metabolism and reduce adipose tissue stores by inhibiting food intake and altering adipocyte sensitivity to insulin. This study investigated the effects of chronic central leptin administration on lipid metabolism and inflammatory- and insulin-signaling pathways in epididymal adipose tissue. Changes were observed in the expression of key enzymes involved in lipid metabolism, as well as insulin-signaling targets and inflammatory markers.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Editorial Material
Endocrinology & Metabolism
Jesus Argente, Manuel Tena-Sempere
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Peter Bang, Michel Polak, Artur Bossowski, Mohamad Maghnie, Jesus Argente, Marta Ramon-Krauel, Caroline Sert, Valerie Perrot, Sarah Mazain, Joachim Woelfle
Summary: This analysis of the Eu-IGFD data aimed to identify the frequency and predictive factors for hypoglycemia adverse events (AEs) in children treated with rhIGF-1. The results showed that patients with a prior history of hypoglycemia and/or Laron syndrome were more likely to experience hypoglycemia AEs, and they should be carefully monitored throughout treatment.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Medical Laboratory Technology
Gregori Casals, Roser Ferrer Costa, Eulalia Urgell Rull, Hector F. Escobar-Morreale, Jesus Argente, Gemma Sesmilo, Betina Biagetti
Summary: Accurate and reproducible laboratory results for sexual steroids are crucial for diagnosing and treating a wide range of disorders. However, the currently available chemiluminescent immunoassays have limitations that significantly impact clinical scenarios. This position statement examines these limitations and recommends incorporating steroid hormone analysis by mass spectrometry in national health systems, a methodology that international societies have endorsed for a decade.
ADVANCES IN LABORATORY MEDICINE-AVANCES EN MEDICINA DE LABORATORIO
(2023)