Review
Endocrinology & Metabolism
Mattia Barbot, Pierluigi Mazzeo, Martina Lazzara, Filippo Ceccato, Carla Scaroni
Summary: CAH, once fatal, is now manageable but patients may face increased cardiovascular risks. Treatment should focus on maintaining hormone balance to prevent adverse effects on long-term cardiovascular health.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Ahmed Torky, Ninet Sinaii, Smita Jha, Jay Desai, Diala El-Maouche, Ashwini Mallappa, Deborah P. Merke
Summary: Patients with CAH have a higher prevalence of obesity, hypertension, insulin resistance, fasting hyperglycemia, and dyslipidemia during childhood and adulthood compared to the general US population, indicating an early onset of metabolic morbidity in this population. Treatment-related and familial factors play a role in the development of these metabolic conditions.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Jonathan Weber, Veeraya K. Tanawattanacharoen, Amy Seagroves, Mark C. Liang, Christina M. Koppin, Heather M. Ross, Tania A. S. S. Bachega, Mitchell E. Geffner, Monica Serrano-Gonzalez, Gagandeep Bhullar, Mimi S. Kim
Summary: The study found that lower epinephrine levels in infants with classical CAH are associated with increased risk of illness in the first year of life. Measuring epinephrine levels and assessing genotype may help predict acute illness in these infants.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Review
Endocrinology & Metabolism
Georgia Pitsava, Constantine A. Stratakis
Summary: Pediatric adrenocortical hyperplasias are rare conditions characterized by Cushing syndrome and genetic defects affecting the adrenal cortex. Most cases are caused by defects in the cyclic AMP/protein kinase A (cAMP/PKA) pathway, while a few cases have unidentified genetic defects. Congenital adrenal hyperplasia, mainly due to steroidogenic enzyme deficiencies, is another cause of adrenal hyperplasia in childhood.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Seung Gyun Lim, Young Ah Lee, Han Na Jang, Sung Hye Kong, Chang Ho Ahn, Sang Wan Kim, Choong Ho Shin, Jung Hee Kim
Summary: The lack of long-term outcome studies in Asian adults with classic CAH due to 21-hydroxylase deficiency prompted this research. The findings demonstrate that adults with CAH have a higher metabolic risk compared to their age- and sex-matched controls, with significantly higher rates of hypertension and obesity observed. Additionally, factors such as TARTs in men and irregular menstruation in women were also examined, revealing a correlation with hormonal levels.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Medicine, General & Internal
Valeria Calcaterra, Giacomo Biganzoli, Simona Ferraro, Elvira Verduci, Virginia Rossi, Sara Vizzuso, Alessandra Bosetti, Barbara Borsani, Elia Biganzoli, Gianvincenzo Zuccotti
Summary: This study conducted a multivariate analysis on pediatric patients with obesity and identified a phenotype predictive for metabolic syndrome. Regardless of body weight, insulin resistance, dyslipidemia, hypertriglyceridemia, and fat distribution appear to be the strongest risk factors for metabolic syndrome.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Nutrition & Dietetics
Nella Polidori, Eleonora Agata Grasso, Francesco Chiarelli, Cosimo Giannini
Summary: The impaired plasmatic levels of BCAAs in obese children and adolescents are associated with obesity-related metabolic disorders, potentially through the activation of the mTORC1 complex causing insulin resistance, and the accumulation of toxic metabolites leading to mitochondrial dysfunction and damage to pancreatic cells. These compounds may help in the early identification of complications related to pediatric obesity, but further studies are needed.
Article
Chemistry, Medicinal
Viktoria Stachanow, Uta Neumann, Oliver Blankenstein, Nele Alder-Baerens, Davide Bindellini, Peter Hindmarsh, Richard J. Ross, Martin J. Whitaker, Johanna Melin, Wilhelm Huisinga, Robin Michelet, Charlotte Kloft
Summary: Monitoring cortisol replacement therapy in CAH patients is essential to prevent adverse events. Dried blood spot (DBS) sampling is a less invasive alternative for pediatric patients. However, target concentrations of important biomarkers using DBS are unknown.
Article
Endocrinology & Metabolism
Mariska A. M. Schroder, Antonius E. van Herwaarden, Paul N. Span, Erica L. T. van den Akker, Gianni Bocca, Sabine E. Hannema, Hetty J. van Der Kamp, Sandra W. K. de Kort, Christiaan F. Mooij, Dina A. Schott, Saartje Straetemans, Vera van Tellingen, Janielle A. van der Velden, Fred C. G. J. Sweep, Hedi L. Claahsen-van der Grinten
Summary: This study compared two standard hydrocortisone timing strategies in young patients with 21-hydroxylase deficiency, either highest dosage in the morning or evening, and found no clear benefit for either schedule in terms of hormonal status, nocturnal blood pressure, and sleep and activity scores. Individual optimization of dose distribution and monitoring disease control at multiple time points is recommended due to variation in individual responses.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Medicine, General & Internal
Rosa Maria Paragliola, Alessia Perrucci, Laura Foca, Andrea Urbani, Paola Concolino
Summary: 21-hydroxylase deficiency (21OHD) is a common form of congenital adrenal hyperplasia (CAH) caused by pathogenic variants in the CYP21A2 gene. The CAH-X syndrome is a specific condition characterized by a chimeric TNXA/TNXB gene that affects patients' mobility and is associated with Ehlers-Danlos syndrome (EDS).
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Endocrinology & Metabolism
Mark de Hora, Natasha Heather, Dianne Webster, Benjamin Albert, Paul Hofman
Summary: The controversy surrounding newborn screening for congenital adrenal hyperplasia using 17-hydroxyprogesterone immunoassay has continued for almost 40 years. Mass spectrometry has shown improvements in screening, but at the expense of additional costs and laboratory workload. The search for novel steroid markers may lead to further advancements in screening.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Endocrinology & Metabolism
Roxana Marino, Angelica Moresco, Natalia Perez Garrido, Pablo Ramirez, Alicia Belgorosky
Summary: This article discusses the relationship between congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency and TNXB gene defects associated with Ehlers Danlos syndrome (EDS). The article introduces the strategies for analyzing the TNXB gene, genetic variations and status in different populations, and discusses the clinical features of EDS and long-term follow-up recommendations.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Suranut Charoensri, Richard J. Auchus
Summary: Cardiometabolic morbidities are prevalent among adults with 21OHD. Hypertension, age, and GC exposure are the main predictive factors of established CVDs in our cohort.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Biochemistry & Molecular Biology
Chang Ho Ahn, Jaeyoon Shim, Han Na Jang, Young Ah Lee, Sang-Won Lee, Man Ho Choi, Jung Hee Kim
Summary: The serum steroid profiling analysis using liquid chromatography-mass spectrometry (LC-MS) can serve as valuable biomarkers for estimating metabolic risk in adult patients with classic congenital adrenal hyperplasia (CAH). Unsupervised clustering algorithm identified two distinct clusters of CAH patients based on serum steroid profiles, with cluster 2 showing higher levels of glucocorticoids and androgens and a significantly higher prevalence of metabolic syndrome compared to cluster 1.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
(2023)
Article
Endocrinology & Metabolism
Devyn L. Cotter, Anisa Azad, Ryan P. Cabeen, Mimi S. Kim, Mitchell E. Geffner, Farshid Sepehrband, Megan M. Herting
Summary: The study found compromised white matter microstructural integrity in youth with CAH, with lower fractional anisotropy and higher mean diffusivity in the fornix and stria terminalis. NODDI modeling also revealed higher orientation dispersion index in the stria terminalis of CAH youth. These results suggest additional related brain phenotype alongside affected hippocampus and amygdala neurocircuitry in individuals with CAH.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)