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)
Review
Endocrinology & Metabolism
Maria Arriba, Begona Ezquieta
Summary: Adrenal insufficiency in paediatric patients is often caused by congenital adrenal hyperplasia (CAH), a severe genetic disease. CYP21A2 gene testing is a crucial molecular diagnostic tool for confirming/discarding adrenal insufficiency, applicable to symptomatic patients and asymptomatic individuals with suspected hormone levels.
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
Endocrinology & Metabolism
Richard J. Auchus, Kyriakie Sarafoglou, Patricia Y. Fechner, Maria G. Vogiatzi, Erik A. Imel, Shanlee M. Davis, Nagdeep Giri, Julia Sturgeon, Eiry Roberts, Jean L. Chan, Robert H. Farber
Summary: This study examined the safety, tolerability, and efficacy of crinecerfont as a selective CRF1R antagonist in patients with 21OHD. The results showed that crinecerfont treatment for 14 days significantly reduced adrenal androgen production and improved clinical symptoms in patients.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Review
Medicine, General & Internal
Joanna Hubska, Anna Kepczynska-Nyk, Katarzyna Czady-Jurszewicz, Urszula Ambroziak
Summary: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. It can be diagnosed at different ages depending on the clinical form. In this case series, eight individuals were diagnosed with CAH between the ages of 18 and 81 years. The clinical presentations, genetic findings, and management of CAH were discussed. The importance of individualized management and long-term screening was emphasized.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Genetics & Heredity
Xin Wang, Yanyun Wang, Dingyuan Ma, Zhilei Zhang, Yahong Li, Peiying Yang, Yun Sun, Tao Jiang
Summary: The study summarized the clinical and genotype characteristics of 21-OHD patients detected by neonatal screening in Nanjing, Jiangsu province of China from 2000 to 2019. Among 1,211,322 screened newborns, 62 cases were diagnosed with 21-OHD, with an incidence of 1:19858. The most frequent variant found in the CYP21A2 gene was c.293-13A/C>G (36.29%).
FRONTIERS IN GENETICS
(2021)
Article
Endocrinology & Metabolism
Myrthe J. M. Verhees, Manon Engels, Paul N. Span, Fred C. G. J. Sweep, Antonius E. van Herwaarden, Henrik Falhammar, Anna Nordenstroem, Emma A. Webb, Annette Richter-Unruh, Claire Bouvattier, Aude Brac de la Perriere, Wiebke Arlt, Nicole Reisch, Birgit Koehler, Marion Rapp, Nike M. M. L. Stikkelbroeck, Nel Roeleveld, Hedi L. Claahsen-van der Grinten
Summary: Men with 21OHD appeared to rate their QoL as good, similar to healthy populations and higher compared to chronically ill patients. Genotype did not significantly influence QoL, but undertreatment and the use of dexamethasone or prednisone were associated with higher QoL scores.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Jacob Ilany, Jiayan Liu, Christoph Welsch, Haike Reznik-Wolf, Ephrat Levy-Lahad, Richard J. Auchus
Summary: This case of salt-losing 21-hydroxylase deficiency is homozygous for two mild pathogenic variants: V281L and S301Y. Co-occurrence of these mutations severely impairs the function of the 21-hydroxylase enzyme, which has important implications for genetic counseling. Consideration of these mild variants as having mild phenotypic effects may lead to inappropriate counseling of heterozygote carriers.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Zhiyuan Zhao, Yinjie Gao, Lin Lu, Anli Tong, Shi Chen, Wei Zhang, Xiaoxia Zhang, Bang Sun, Xueyan Wu, Jiangfeng Mao, Xi Wang, Min Nie
Summary: This study analyzed the relationship between genotype and phenotype in 21-Hydroxylase deficiency patients harboring P31L variant and the underlying mechanism. The findings suggest that the high incidence (57.4%) of simple virilizing form in these patients is partially due to both the promoter variants and P31L aligning in cis on one allele.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Endocrinology & Metabolism
Tomoyo Itonaga, Yukihiro Hasegawa
Summary: 21-hydroxylase deficiency (21-OHD) is the most common form of congenital adrenal hyperplasia. Newborn screening and genetic testing have improved the diagnosis of 21-OHD, but there are still challenges in treatment.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Mayara J. Prado, Shripriya Singh, Rodrigo Ligabue-Braun, Bruna V. Meneghetti, Thaiane Rispoli, Cristiane Kopacek, Karina Monteiro, Arnaldo Zaha, Maria L. R. Rossetti, Amit V. Pandey
Summary: In this study, we investigated the pathogenicity of uncharacterized variants in the CYP21A2 gene reported in Brazilian and Portuguese populations. Through computational analysis and functional assays, we determined how these mutations affect the protein structure and activity, providing insights for the diagnosis and management of CYP21A2 deficiency.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Endocrinology & Metabolism
Salma R. Ali, Jillian Bryce, Houra Haghpanahan, James D. Lewsey, Li En Tan, Navoda Atapattu, Niels H. Birkebaek, Oliver Blankenstein, Uta Neumann, Antonio Balsamo, Rita Ortolano, Walter Bonfig, Hedi L. Claahsen-van der Grinten, Martine Cools, Eduardo Correa Costa, Feyza Darendeliler, Sukran Poyrazoglu, Heba Elsedfy, Martijn J. J. Finken, Christa E. Fluck, Evelien Gevers, Marta Korbonits, Guilherme Guaragna-Filho, Tulay Guran, Ayla Guven, Sabine E. Hannema, Claire Higham, Ieuan A. Hughes, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Violeta Iotova, Nils P. Krone, Ruth Krone, Corina Lichiardopol, Andrea Luczay, Berenice B. Mendonca, Tania A. S. S. Bachega, Mirela C. Miranda, Tatjana Milenkovic, Klaus Mohnike, Anna Nordenstrom, Silvia Einaudi, Hetty van der Kamp, Ana Vieites, Liat de Vries, Richard J. M. Ross, S. Faisal Ahmed
Summary: The study analyzed data from children with classic 21-hydroxylase deficiency CAH from 34 centers in 18 countries, finding that the number of SDE per patient-year was higher in Low or Middle Income Countries. Infectious illness was the most common precipitating event for both SDE and AC.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Deborah P. Merke, Ashwini Mallappa, Wiebke Arlt, Aude Brac de la Perriere, Angelica Linden Hirschberg, Anders Juul, John Newell-Price, Colin G. Perry, Alessandro Prete, D. Aled Rees, Nicole Reisch, Nike Stikkelbroeck, Philippe Touraine, Kerry Maltby, F. Peter Treasure, John Porter, Richard J. Ross
Summary: The study showed that MR-HC improved biochemical disease control in adults with CAH, reducing steroid dose over time and providing patient-reported benefits, including menstrual restoration and pregnancies.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Jennifer L. Ng, Ee Mun Lim, Rui Zhang, John P. Beilby, Gerald F. Watts, Suzanne J. Brown, Bronwyn G. A. Stuckey
Summary: Liquid chromatography and tandem mass spectrometry (LC-MS/MS) can accurately differentiate nonclassic congenital adrenal hyperplasia (NCCAH) and polycystic ovary syndrome (PCOS) using measured 17-hydroxyprogesterone (17OHP) and 21-deoxycortisol (21DF). The LC-MS/MS-specific 17OHP thresholds are lower than those based on immunoassay and are suitable for NCCAH diagnosis. 21DF shows high sensitivity and specificity for the diagnosis of NCCAH and heterozygosity (HTZ).
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Robert Saho, Vita Dolzan, Mojca Zerjav Tansek, Andrea Pastorakova, Robert Petrovic, Maria Knapkova, Katarina Trebusak Podkrajsek, Jasna Suput Omladic, Sara Bertok, Magdalena Avbelj Stefanija, Primoz Kotnik, Tadej Battelino, Zuzana Pribilincova, Urh Groselj
Summary: ObjectiveTo analyze the mutational spectrum, clinical characteristics, genotype-phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal screening in congenital adrenal hyperplasia (CAH) patients from Slovakia and Slovenia. The study confirmed the significance of neonatal screening in the diagnosis of severe forms of CAH and the importance of screening for testicular adrenal rests tumor in male patients.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Nutrition & Dietetics
Karen M. O'Callaghan, Shaila S. Shanta, Farzana Fariha, Jennifer Harrington, Abdullah Al Mahmud, Abby L. Emdin, Alison D. Gernand, Tahmeed Ahmed, Steven A. Abrams, Daniel R. Moore, Daniel E. Roth
Summary: This study aimed to investigate the potential effects of improving early-life vitamin D status on musculoskeletal health in children. The results showed no significant improvement in bone mass, bone density, or grip strength in four-year-old children with prenatal and postpartum vitamin D supplementation.
AMERICAN JOURNAL OF CLINICAL NUTRITION
(2022)
Article
Endocrinology & Metabolism
Naiara G. Bediaga, Alexandra L. Garnham, Gaetano Naselli, Esther Bandala-Sanchez, Natalie L. Stone, Joanna Cobb, Jessica E. Harbison, John M. Wentworth, Annette-G. Ziegler, Jennifer J. Couper, Gordon K. Smyth, Leonard C. Harrison
Summary: This study found that cytotoxic CD4(+) T cells play a role in promoting the progression of type 1 diabetes, based on analysis of gene expression and chromatin accessibility in children with the disease.
Article
Endocrinology & Metabolism
Stephanie R. Johnson, Deborah J. Holmes-Walker, Melissa Chee, Arul Earnest, Timothy W. Jones
Summary: After the national subsidy, the uptake of CGM increased significantly and was associated with sustained improvement in glycemic control.
Article
Endocrinology & Metabolism
Madeleine Hall, Helena Oakey, Megan A. S. Penno, Kelly McGorm, Amanda J. Anderson, Pat Ashwood, Peter G. Colman, Maria E. Craig, Elizabeth A. Davis, Mark Harris, Leonard C. Harrison, Aveni Haynes, Claire Morbey, Richard O. Sinnott, Georgia Soldatos, Peter J. Vuillermin, John M. Wentworth, Rebecca L. Thomson, Jennifer J. Couper
Summary: Overall, there was no significant difference in mental health between women with and without type 1 diabetes during late pregnancy and postpartum, and mental health scores were not correlated with glycemic control.
Article
Endocrinology & Metabolism
Claire A. Robertson, Arul Earnest, Melissa Chee, Maria E. Craig, Peter Colman, Helen L. Barrett, Philip Bergman, Fergus Cameron, Elizabeth A. Davis, Kim C. Donaghue, P. Gerry Fegan, P. Shane Hamblin, D. Jane Holmes-Walker, Craig Jefferies, Stephanie Johnson, Meng T. Mok, Bruce R. King, Richard Sinnott, Glenn Ward, Benjamin J. Wheeler, Anthony Zimmermann, Timothy W. Jones, Jenny J. Couper
DIABETES OBESITY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Esther Bandala-Sanchez, Alexandra J. Roth-Schulze, Helena Oakey, Megan A. S. Penno, Naiara G. Bediaga, Gaetano Naselli, Katrina M. Ngui, Alannah D. Smith, Dexing Huang, Enrique Zozaya-Valdes, Rebecca L. Thomson, James D. Brown, Peter J. Vuillermin, Simon C. Barry, Maria E. Craig, William D. Rawlinson, Elizabeth A. Davis, Mark Harris, Georgia Soldatos, Peter G. Colman, John M. Wentworth, Aveni Haynes, Grant Morahan, Richard O. Sinnott, Anthony T. Papenfuss, Jennifer J. Couper, Leonard C. Harrison
Summary: The study reveals that pregnant women with type 1 diabetes experience changes in their gut fungal microbiome during pregnancy, accompanied by intestinal inflammation and impaired intestinal barrier function.
DIABETES RESEARCH AND CLINICAL PRACTICE
(2022)
Article
Endocrinology & Metabolism
Paul Z. Benitez-Aguirre, M. Loredana Marcovecchio, Scott T. Chiesa, Maria E. Craig, Tien Y. Wong, Elizabeth A. Davis, Andrew Cotterill, Jenny J. Couper, Fergus J. Cameron, Farid H. Mahmud, H. Andrew W. Neil, Timothy W. Jones, Lauren A. B. Hodgson, R. Neil Dalton, Sally M. Marshall, John Deanfield, David B. Dunger, Kim C. Donaghue
Summary: The study suggests that adolescents with type 1 diabetes and a high urinary albumin/creatinine ratio (ACR) are at greater risk of diabetic retinopathy progression (3DR), independent of glycemic control.
Article
Endocrinology & Metabolism
Jennifer Harrington, Mark R. Palmert
Summary: This article discusses the evaluation and treatment of youth with delayed puberty by pediatric endocrinologists, as well as the challenges and approaches in different scenarios.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Letter
Endocrinology & Metabolism
Jennifer Harrington, Mark R. Palmert
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Orthopedics
Tewodros Zerfu, Bicheng Yong, Jennifer Harrington, Andrew Howard
Summary: OI patients with non-COL1A1/2 mutations exhibit severe skeletal presentations with unique features. This information is valuable for clinical diagnosis and prognosis.
JOURNAL OF PEDIATRIC ORTHOPAEDICS
(2022)
Article
Endocrinology & Metabolism
Kelly J. McGorm, James D. Brown, Rebecca L. Thomson, Helena Oakey, Belinda Moore, Alexandra Hendry, Peter G. Colman, Maria E. Craig, Elizabeth A. Davis, Mark Harris, Leonard C. Harrison, Aveni Haynes, Georgia Soldatos, Peter Vuillermin, John M. Wentworth, Jennifer J. Couper, Megan A. S. Penno
Summary: This study evaluated the use of the ENDIA Facebook page and found that it was a valuable recruitment tool. Participants recruited through Facebook were less likely to withdraw during long-term follow-up and had different sociodemographic characteristics compared to conventional recruits. Content featuring participants received the highest engagement on Facebook.
JOURNAL OF DIABETES SCIENCE AND TECHNOLOGY
(2023)
Article
Endocrinology & Metabolism
John M. Wentworth, Helena Oakey, Maria E. Craig, Jennifer J. Couper, Fergus J. Cameron, Elizabeth A. Davis, Antony R. Lafferty, Mark Harris, Benjamin J. Wheeler, Craig Jefferies, Peter G. Colman, Leonard C. Harrison
Summary: T1D autoantibody screening and metabolic monitoring of older children and young adults in Australia and New Zealand can reduce the risk of DKA and improve glucose control. These clinical benefits support ongoing efforts to increase screening activity in the region.
PEDIATRIC DIABETES
(2022)
Article
Endocrinology & Metabolism
Rachel E. J. Besser, Kirstine J. Bell, Jenny J. Couper, Anette-G Ziegler, Diane K. Wherrett, Mikael Knip, Cate Speake, Kristina Casteels, Kimberly A. Driscoll, Laura Jacobsen, Maria E. Craig, Michael J. Haller
PEDIATRIC DIABETES
(2022)
Review
Pediatrics
Abdulmajeed AlSubaihin, Jennifer Harrington
Summary: With the discovery of genes involved in vitamin D metabolism and calcium-phosphate regulation, there are now more recognized genetic forms of rickets. These can be classified into low calcium and low phosphate rickets. The clinical overlap between acquired and genetic forms of rickets makes it challenging to identify children with hereditary rickets. Understanding the molecular basis and associated biochemical patterns of hereditary rickets allows healthcare providers to accurately diagnose and shorten the diagnostic journey for these children.
CURRENT PEDIATRIC REVIEWS
(2022)
Article
Pediatrics
Aysha Sidiqi, Farzana Fariha, Shaila S. Shanta, Alison Dasiewicz, Abdullah Al. Mahmud, Daniel R. Moore, Mahalakshmi Shankaran, Marc K. Hellerstein, William J. Evans, Alison D. Gernand, M. Munirul Islam, Steven A. Abrams, Jennifer Harrington, Edna Nyangau, Daniel E. Roth, Karen M. O'Callaghan
Summary: The feasibility and performance of the D3Cr dilution method for measuring skeletal muscle mass (SMM) in young children was assessed in a cohort in Bangladesh. The method successfully measured SMM in 91% of participants, but had low precision and high within-child variability. Further optimization is needed before implementing this method in community research settings.
PEDIATRIC RESEARCH
(2023)