Review
Endocrinology & Metabolism
Hedi L. Claahsen-van der Grinten, Phyllis W. Speiser, S. Faisal Ahmed, Wiebke Arlt, Richard J. Auchus, Henrik Falhammar, Christa E. Fluck, Leonardo Guasti, Angela Huebner, Barbara B. M. Kortmann, Nils Krone, Deborah P. Merke, Walter L. Miller, Anna Nordenstrom, Nicole Reisch, David E. Sandberg, Nike M. M. L. Stikkelbroeck, Philippe Touraine, Agustini Utari, Stefan A. Wudy, Perrin C. White
Summary: Congenital adrenal hyperplasia is a group of autosomal recessive disorders affecting cortisol biosynthesis, with the most common form caused by steroid 21-hydroxylase deficiency due to mutations in CYP21A2. Recent developments include advancements in understanding steroidogenic pathways, improvements in diagnostic measurements, and exploration of alternative medications and treatments for CAH patients.
Review
Endocrinology & Metabolism
Bas P. H. Adriaansen, Mariska A. M. Schroder, Paul N. Span, Fred C. G. J. Sweep, Antonius E. van Herwaarden, Hedi L. Claahsen-van der Grinten
Summary: Congenital adrenal hyperplasia (CAH) is a congenital condition affecting adrenal steroidogenesis. Treatment options for CAH patients with different symptoms need to be individualized. Glucocorticoid treatment can lower adrenal androgen production, but may have negative effects on cardiovascular system and bone health.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Adina F. Turcu, Ashwini Mallappa, Aikaterini A. Nella, Xuan Chen, Lili Zhao, Aya T. Nanba, James Brian Byrd, Richard J. Auchus, Deborah P. Merke
Summary: The study compared the dynamic response of steroids in patients with 21-hydroxylase deficiency to conventional oral glucocorticoids and continuous subcutaneous hydrocortisone infusion. The findings suggest that 11-oxyandrogens and PregS could serve as biomarkers for disease control in 21OHD, with the diurnal variability of these novel biomarkers needing consideration.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Andrew J. Nickerson, Vazhaikkurichi M. Rajendran
Summary: The corticosteroid hormone aldosterone enhances K+ secretion in the colon and plays a critical role in maintaining K+ balance. Previous studies showed that aldosterone up-regulates basolateral NKCC1 specifically in the distal colon to support K+ secretion, but its effects on the proximal colon are unclear. Understanding these region-specific effects is important for managing gastrointestinal pathologies.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2023)
Review
Endocrinology & Metabolism
Analia Yogi, Kenichi Kashimada
Summary: Optimizing glucocorticoid dosage is crucial in classic 21OHD treatment to avoid complications such as adrenal insufficiency and Cushing's syndrome. A narrow window for appropriate glucocorticoid treatment exists due to the need to suppress androgen excess. An in-depth understanding of patients' physiological needs according to their life stage and sex, as well as careful psychological management for 46,XX female patients, is essential. This review provides a comprehensive summary of current classic 21OHD treatment options and discusses the potential of new agents such as Chronocort and Crinecerfont.
Article
Endocrinology & Metabolism
Beatrice Righi, Salma R. Ali, Jillian Bryce, Jeremy W. Tomlinson, Walter Bonfig, Federico Baronio, Eduardo C. Costa, Guilherme Guaragna-Filho, Guy T'Sjoen, Martine Cools, Renata Markosyan, Tania A. S. S. Bachega, Mirela C. Miranda, Violeta Iotova, Henrik Falhammar, Filippo Ceccato, Marianna R. Stancampiano, Gianni Russo, Eleni Daniel, Richard J. Auchus, Richard J. Ross, S. Faisal Ahmed
Summary: This study aims to investigate the prevalence of comorbidity in adults with 21-hydroxylase CAH and the current practice for assessing comorbidity. A questionnaire was sent to 46 expert centres managing adults with CAH, collecting information on therapy and surveillance practice for osteoporosis/osteopaenia, hyperlipidaemia, type 2 diabetes/hyperinsulinaemia, hypertension, CV disease, and obesity. The results indicate that cardiometabolic and bone morbidities are not uncommon in adults with CAH. Standardized screening and collection of data are needed to explore optimal therapy.
Article
Obstetrics & Gynecology
Guillaume Bachelot, Anne Bachelot, Marion Bonnier, Joe-Elie Salem, Dominique Farabos, Severine Trabado, Charlotte Dupont, Peter Kamenicky, Muriel Houang, Jean Fiet, Yves Le Bouc, Jacques Young, Antonin Lamaziere
Summary: A combination of metabolomic signature and machine learning models can distinguish nonclassic 21-hydroxylase deficiency from polycystic ovary syndrome without adrenocorticotrophic hormone testing. A single sampling methodology may be used to exclude the diagnosis of nonclassic 21-hydroxylase deficiency in the presence of a clinical hyperandrogenic presentation at any time of the menstrual cycle. Cosyntropin stimulation remains the gold standard diagnosis of nonclassic 21-hydroxylase deficiency.
HUMAN REPRODUCTION
(2023)
Article
Medicine, General & Internal
Hideaki Kaneto, Hayato Isobe, Junpei Sanada, Fuminori Tatsumi, Tomohiko Kimura, Masashi Shimoda, Shuhei Nakanishi, Kohei Kaku, Tomoatsu Mune
Summary: Congenital adrenal hyperplasia is a condition characterized by deficiencies in certain enzymes involved in hormone biosynthesis. This article presents a case of a 31-year-old male with infertility who was ultimately diagnosed with 21-hydroxylase deficiency. It highlights the importance of considering this condition in individuals with infertility born before 1989 and not screened for this disease.
Article
Endocrinology & Metabolism
Xiu-Li Yang, Ting-Ting Zhang, Jing Shang, Qing Xue, Yan-Rong Kuai, Sheng Wang, Yang Xu
Summary: We explored a rational glucocorticoid use protocol to reduce side effects in women with non-classic 17OHD undergoing assisted reproduction. With the appropriate treatment plan, this study achieved successful clinical outcomes and healthy live births.
FRONTIERS IN ENDOCRINOLOGY
(2022)
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
Pediatrics
Fabiola Di Dato, Donatella Capalbo, Rita Mirra, Francesca Del Vecchio Blanco, Mariacarolina Salerno, Raffaele Iorio
Summary: The case report highlights the importance of considering adrenal insufficiency in all cholestatic infants, even in the absence of specific symptoms. Early recognition and treatment are essential to prevent life-threatening events. The report also emphasizes the challenge of systematic search for potential causes of neonatal cholestasis in infants.
FRONTIERS IN PEDIATRICS
(2021)
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
Anne Pourquet, Jordan Teoli, Aurore Bouty, Lucie Renault, Florence Roucher, Delphine Mallet, Chantal Rigaud, Frederique Dijoud, Pierre Mouriquand, Pierre-Yves Mure, Damien Sanlaville, Rene Ecochard, Ingrid Plotton
Summary: Determining steroid levels in the amniotic fluid provides insights into fetal adrenal and gonadal functions. This study aimed to establish reference ranges for 12 steroids during pregnancy and compare them to levels in pregnancies with 21-hydroxylase deficiency. The researchers used liquid chromatography coupled with tandem mass spectrometry to analyze amniotic fluid samples from control pregnancies and pregnancies with 21-hydroxylase deficiency. They found significant differences in certain steroids levels based on fetal sex and established age- and sex-dependent reference values. The study provides valuable information for prenatal diagnosis and the understanding of variations in fetal steroidogenesis.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Medicine, General & Internal
Lea Tschaidse, Matthias K. Auer, Ilja Dubinski, Christian Lottspeich, Hanna Nowotny, Heinrich Schmidt, Nadezda Gut, Nicole Reisch
Summary: This article describes a case of ectopic prostate tissue in the cervix uteri of a 46,XX patient with a confirmed diagnosis of non-classic CAH. The presence of prostate tissue in this location is likely associated with androgen excess and should be considered as a differential diagnosis for atypical tissue in the female genital tract.
JOURNAL OF CLINICAL MEDICINE
(2022)
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)
Letter
Endocrinology & Metabolism
Peter Wolf, Benjamin Marty, Khaoula Bouazizi, Nadjia Kachenoura, Celine Piedvache, Anne Blanchard, Sylvie Salenave, Mikael Prigent, Christel Jublanc, Christiane Ajzenberg, Celine Droumaguet, Jacques Young, Anne-Lise Lecoq, Emmanuelle Kuhn, Helene Agostini, Severine Trabado, Pierre G. Carlier, Bruno Feve, Alban Redheuil, Philippe Chanson, Peter Kamenicky
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Antoine Tabarin, Guillaume Assie, Pascal Barat, Fideline Bonnet, Jean Francois Bonneville, Francoise Borson-Chazot, Jerome Bouligand, Anne Boulin, Thierry Brue, Philippe Caron, Frederic Castinetti, Olivier Chabre, Philippe Chanson, Jean Benoit Corcuff, Christine Cortet, Regis Coutant, Anthony Dohan, Delphine Drui, Stephanie Espiard, Delphine Gaye, Solenge Grunenwald, Laurence Guignat, Elif Hindie, Frederic Illouz, Peter Kamenicky, Herve Lefebvre, Agnes Linglart, Laetitia Martinerie, Marie Odile North, Marie Laure Raffin-Samson, Isabelle Raingeard, Gerald Raverot, Veronique Raverot, Yves Reznik, David Taieb, Delphine Vezzosi, Jacques Young, Jerome Bertherat
Summary: Cushing's syndrome is a rare condition characterized by prolonged exposure to glucocorticoids, which leads to increased morbidity and mortality. Diagnosis of this syndrome is challenging due to the nonspecific clinical signs, variability in clinical presentation severity, and difficulties in interpreting diagnostic methods. A consensus paper by experts in the field aimed to provide detailed information on the diagnostic criteria, biological diagnostic tools, and interpretation for positive diagnosis and etiological diagnosis based on ACTH-independent and dependent mechanisms. Complex situations such as pregnancy, intense hypercortisolism, fluctuating Cushing's syndrome, pediatric forms, and genetically determined forms were also discussed. Additionally, methods for surveillance and diagnosis of recurrence were addressed.
ANNALES D ENDOCRINOLOGIE
(2022)
Article
Medical Laboratory Technology
Kenneth Chappell, Bruno Francou, Christophe Habib, Thomas Huby, Marco Leoni, Aurelien Cottin, Florian Nadal, Eric Adnet, Eric Paoli, Christophe Oliveira, Celine Verstuyft, Anne Davit-Spraul, Pauline Gaignard, Elise Lebigot, Jean-Charles Duclos-Vallee, Jacques Young, Peter Kamenicky, David Adams, Andoni Echaniz-Laguna, Emmanuel Gonzales, Claire Bouvattier, Agnes Linglart, Veronique Picard, Emilie Bergoin, Emmanuel Jacquemin, Anne Guiochon-Mantel, Alexis Proust, Jerome Bouligand
Summary: This study reports 5 years of experience in using the Galaxy platform for high-throughput sequencing data analysis in a clinical laboratory setting. The results demonstrate that Galaxy is a suitable platform with great potential to benefit patient care in a clinical laboratory setting.
CLINICAL CHEMISTRY
(2022)
Article
Cell Biology
Thi An Vu, Ingrid Lema, Imene Hani, Lydie Cheval, Laura Atger-Lallier, Vilayvane Souvannarath, Julie Perrot, Melanie Souvanheuane, Yannick Marie, Sylvie Fabrega, Anne Blanchard, Jerome Bouligand, Peter Kamenicky, Gilles Crambert, Laetitia Martinerie, Marc Lombes, Say Viengchareun
Summary: Under hypertonicity, miR-324-5p and miR-30c-2-3p are recruited to regulate MR expression and signaling, affecting renal function and sodium retention.
Article
Endocrinology & Metabolism
Lucas Bouys, Anna Vaczlavik, Anne Jouinot, Patricia Vaduva, Stephanie Espiard, Guillaume Assie, Rossella Libe, Karine Perlemoine, Bruno Ragazzon, Laurence Guignat, Lionel Groussin, Leopoldine Bricaire, Isadora Pontes Cavalcante, Fideline Bonnet-Serrano, Herve Lefebvre, Marie-Laure Raffin-Sanson, Nicolas Chevalier, Philippe Touraine, Christel Jublanc, Camille Vatier, Gerald Raverot, Magalie Haissaguerre, Luigi Maione, Matthias Kroiss, Martin Fassnacht, Sophie Christin-Maitre, Eric Pasmant, Francoise Borson-Chazot, Antoine Tabarin, Marie-Christine Vantyghem, Martin Reincke, Peter Kamenicky, Marie-Odile North, Jerome Bertherat
Summary: This study aimed to identify predictive criteria for ARMC5 variants in patients with Primary bilateral macronodular adrenal hyperplasia (PBMAH). Patients with ARMC5 germline pathogenic variants showed a more distinct phenotype in terms of cortisol excess and adrenal morphology, and were more often treated surgically or medically. The combination of bilateral adrenal involvement and autonomous cortisol secretion criteria had 100% sensitivity and a 100% negative predictive value for ARMC5 pathogenic variant.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Marie-Noelle Meaux, Jerome Harambat, Anya Rothenbuhler, Juliane Leger, Peter Kamenicky, Sylvie Soskin, Olivia Boyer, Emese Boros, Pascal D'Anella, Brigitte Mignot, Maite Gebhart, Philippe Vic, Nicolas Richard, Beatrice Thivichon-Prince, Bruno Francou, Agnes Linglart, Justine Bacchetta, Arnaud Molin
Summary: The study retrospectively collected clinical data of 24 cases of vitamin D-dependent rickets type 1A, and found that partial loss-of-function variation may be associated with a milder disease phenotype. Patients had good clinical, biochemical, and radiological outcomes after treatment, but adherence is crucial to prevent complications.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Maria Fleseriu, Beverly M. K. Biller, Jerome Bertherat, Jacques Young, Betul Hatipoglu, Giorgio Arnaldi, Paul O'Connell, Miguel Izquierdo, Alberto M. Pedroncelli, Rosario Pivonello
Summary: In the optional extension of the LINC 2 study, Osilodrostat provided sustained reductions in mUFC for up to 6.7 years of treatment in patients with Cushing's disease, with no new safety signals emerging.
Article
Endocrinology & Metabolism
Peter Wolf, Alexandre Dormoy, Luigi Maione, Sylvie Salenave, Jacques Young, Peter Kamenicky, Philippe Chanson
Summary: Pasireotide, a second-generation somatostatin receptor ligand (SRL) used for treating acromegaly, may be associated with glucose metabolism impairment. In a retrospective study of 33 patients, we observed that treatment with pasireotide was associated with normalization of serum IGF-1 in almost 60% of patients, but one-third of patients developed diabetes. In the patients who stopped pasireotide because of hyperglycemia, HbA1c promptly decreased. Longitudinal data in 14 patients show that diabetes is mediated by impaired insulin secretion, which occurred shortly and then remained stable on long term, while no significant changes in insulin sensitivity were observed, despite a marked reduction of GH/IGF-1 concentrations. Older age and a worse glycemic control at baseline were the strongest predictors for hyperglycemia.
ENDOCRINE CONNECTIONS
(2022)
Article
Obstetrics & Gynecology
Guillaume Bachelot, Anne Bachelot, Marion Bonnier, Joe-Elie Salem, Dominique Farabos, Severine Trabado, Charlotte Dupont, Peter Kamenicky, Muriel Houang, Jean Fiet, Yves Le Bouc, Jacques Young, Antonin Lamaziere
Summary: A combination of metabolomic signature and machine learning models can distinguish nonclassic 21-hydroxylase deficiency from polycystic ovary syndrome without adrenocorticotrophic hormone testing. A single sampling methodology may be used to exclude the diagnosis of nonclassic 21-hydroxylase deficiency in the presence of a clinical hyperandrogenic presentation at any time of the menstrual cycle. Cosyntropin stimulation remains the gold standard diagnosis of nonclassic 21-hydroxylase deficiency.
HUMAN REPRODUCTION
(2023)
Article
Endocrinology & Metabolism
Alexandre Dormoy, Magalie Haissaguerre, Geraldine Vitellius, Christine Do Cao, Aurore Geslot, Delphine Drui, Helene Lasolle, Oceana Vieira-Pinto, Sylvie Salenave, Maud Francois, Marie Puerto, Helene Du Boullay, Anne Mayer, Anne Rod, Claire Laurent, Philippe Chanson, Yves Reznik, Frederic Castinetti, Olivier Chabre, Eric Baudin, Gerald Raverot, Antoine Tabarin, Jacques Young
Summary: This study evaluated the efficacy and safety of osilodrostat in patients with PNCS/EAS in France, and found that osilodrostat had significant efficacy in reducing hypercortisolism symptoms in these patients and was generally well tolerated.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Rheumatology
Peter Kamenicky, Karine Briot, Maria Luisa Brandi, Martine Cohen-Solal, Rachel K. Crowley, Richard Keen, Sami Kolta, Robin H. Lachmann, Anne-Lise Lecoq, Stuart H. Ralston, Jennifer S. Walsh, Angela J. Rylands, Angela Williams, Wei Sun, Annabel Nixon, Mark Nixon, Muhammad K. Javaid
Summary: The study aimed to report the impact of continued burosumab treatment on clinical laboratory tests, patient-reported outcomes, and ambulatory function in adults with X-linked hypophosphataemia. Results showed that improvements in serum phosphate, serum 1,25 dihydroxyvitamin D, and renal phosphate reabsorption were maintained during the extension period. Additionally, improvements were observed in stiffness and physical function, pain and fatigue symptoms, and ambulatory function.
Article
Endocrinology & Metabolism
Thierry Brue, Haifa Rahabi, Abdoulaye Barry, Anne Barlier, Jerome Bertherat, Francoise Borson-Chazot, Frederic Castinetti, Laure Cazabat, Olivier Chabre, Nicolas Chevalier, Sophie Christin-Maitre, Christine Cortet, Delphine Drui, Peter Kamenicky, Catherine Lancon, Frederic Liote, Isabelle Pellegrini, Rachel Reynaud, Sylvie Salenave, Igor Tauverono, Philippe Tourainep, Marie-Christine Vantyghem, Bruno Verges, Delphine Vezzosi, Chiara Villas, Gerald Raverotd, Regis Coutantt, Philippe Chansonk, Frederique Albarela
Summary: Acromegaly is a rare disease with a slight female predominance and peak onset in adults in the fourth decade. The clinical diagnosis is often delayed due to the slowly progressive onset of symptoms. Multiple clinical criteria define acromegaly, and imaging by pituitary MRI is used to identify the causal tumor for better management. Surgical removal of the tumor is the first-line treatment, with medical treatments used when surgery is not effective. In some cases, acromegaly may be linked to a genetic predisposition.
ANNALES D ENDOCRINOLOGIE
(2023)
Article
Health Care Sciences & Services
Dolly Yazgi, Carine Richa, Sylvie Salenave, Peter Kamenicky, Amel Bourouina, Lorraine Clavier, Margot Dupeux, Jean-Francois Papon, Jacques Young, Philippe Chanson, Luigi Maione
Summary: Neck ultrasound (US) is a useful tool in distinguishing parathyroid glands (PPGs) from thyroid nodules. This study demonstrates distinct US characteristics of PPGs that can help differentiate them from thyroid nodules. High-risk cervical lesions detected in US may actually be PPGs with similar features.
LANCET REGIONAL HEALTH-EUROPE
(2023)
Article
Endocrinology & Metabolism
Maria Luisa Brandi, Suzanne Jan de Beur, Karine Briot, Thomas Carpenter, Hae Il Cheong, Martine Cohen-Solal, Rachel K. Crowley, Richard Eastell, Yasuo Imanishi, Erik A. Imel, Steven W. Ing, Karl Insogna, Nobuaki Ito, Kassim Javaid, Peter Kamenicky, Richard Keen, Takuo Kubota, Robin H. Lachmann, Farzana Perwad, Pisit Pitukcheewanont, Anthony Portale, Stuart H. Ralston, Hiroyuki Tanaka, Thomas J. Weber, Han-Wook Yoo, Wei Sun, Angela Williams, Annabel Nixon, Yasuhiro Takeuchi
Summary: This post hoc subgroup analysis demonstrates that burosumab has significant advantages in improving hypophosphatemia symptoms in adults with X-linked hypophosphatemia (XLH), including pain, stiffness, physical function, and fatigue. In various clinically relevant subgroups, burosumab shows superior efficacy compared to placebo.
CALCIFIED TISSUE INTERNATIONAL
(2022)