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Estelle Bonnet Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France

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Mathias Winter Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de psychopathologie du développement, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de biologie et pathologie Est, Service d’hormonologie, d’endocrinologie moléculaire et des maladies rares, Bron, France

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Delphine Mallet Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de biologie et pathologie Est, Service d’hormonologie, d’endocrinologie moléculaire et des maladies rares, Bron, France

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Ingrid Plotton Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service Endocrinologie Moléculaire et Maladies Rares, Bron, France

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Claire Bouvattier Centre Hospitalier Universitaire AP-HP, Hôpital Bicêtre, Service d’endocrinologie pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN Université Paris Saclay, Le Kremlin-Bicêtre, France

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Maryse Cartigny Centre Hospitalier Régional Universitaire Lille, Hôpital Jeanne de Flandre, Unité d’Endocrinologie pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Lille, France

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Laetiti Martinerie Centre Hospitalier Universitaire AP-HP, Hôpital Robert Debré, Service d’Endocrinologie pédiatrique Centre de Référence des Maladies Rares Endocriniennes de la Croissance et du Développement – CRMERC Université de Paris, Paris, France

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Michel Polak Centre Hospitalier Universitaire AP-HP, Hôpital universitaire Necker Enfants malades, Endocrinologie gynécologie diabétologie pédiatriques Centre de référence des maladies endocriniennes rares de la croissance et du développement Inserm U1016, institut Imagine, Paris, France

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Anne Bachelot Centre Hospitalier Universitaire AP-HP, Hôpital Pitié Salpêtrière, Department of Endocrinology and Reproductive Medicine Centre de Référence des Maladies Endocriniennes Rares de la Croissance et du Développement Centre de Référence des pathologies gynécologiques rares IE3M, Paris, France

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Frédéric Huet Centre Hospitalier Universitaire Dijon-Bourgogne, Hôpital d’Enfants, Service de Pédiatrie Multidisciplinaire, Dijon, France

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Sabine Baron Centre Hospitalier universitaire de Nantes, Hôpital Mère-Enfant, Service de Pédiatrie, Nantes, France

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Muriel Houang Centre Hospitalier Universitaire AP-HP, Hôpital Armand Trousseau, Service d'Explorations Fonctionnelles Endocriniennes, Paris, France

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Sylvie Soskin Hôpitaux Universitaires de Strasbourg, CHU Hautepierre, Service de Pédiatrie 1, Strasbourg, France

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Anne Lienhardt Centre hospitalier universitaire Limoges, Hôpital de la Mère et de l’enfant, Service de Pédiatrie, Limoges, France

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Jérôme Bertherat Groupement Hospitalier Universitaire de Paris, AP-HP, Hôpital Cochin, Service d'Endocrinologie, Paris, France

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Cyril Amouroux Centre Hospitalier Universitaire de Montpellier, Hôpital Lapeyronie, Service de Néphrologie et Endocrinologie Pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Montpellier, France

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Aurore Bouty Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France

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Lise Duranteau AP-HP, Hôpital Bicêtre, Unité de gynécologie de l’adolescente Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN Université Paris Saclay, Le Kremlin-Bicêtre, France

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Rémi Besson Centre Hospitalier Régional Universitaire Lille, Hôpital Jeanne de Flandre, Service de chirurgie pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Lille, France

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Alaa El Ghoneimi Centre Hospitalier Universitaire AP-HP Robert Debré, Service de Chirurgie Viscérale et Urologie pédiatrique Centre de Référence des Maladies Endocriniennes de la croissance et du développement – CRMERC Université de Paris, Paris, France

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Dinane Samara-Boustani Centre Hospitalier Universitaire AP-HP, Hôpital Necker Enfants malades, Endocrinologie gynécologie diabétologie pédiatriques Centre de référence des maladies endocriniennes rares de la croissance et du développement, Paris, France

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François Becmeur Hospitaux Universitaires de Strasbourg, CHU Hautepierre, Service de chirurgie pédiatrique, Strasbourg, France

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Nicolas Kalfa Centre Hospitalier Universitaire de Montpellier, Hôpital Lapeyronie, Service de Chirurgie Viscérale et Urologie Pédiatrique Centre National de Référence Maladies Rares du Développement Génital Constitutif Sud Institut Debrest de Santé Publique IDESP, UMR INSERM, Université de Montpellier, Montpellier, France

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Françoise Paris Centre Hospitalier Universitaire de Montpellier, Hôpital Lapeyronie, Service de Néphrologie et Endocrinologie Pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Montpellier, France

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François Medjkane Centre Hospitalier Régional Universitaire Lille, Hôpital Jeanne de Flandre, Service de psychiatrie de l’enfant et de l’adolescent Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Lille, France

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Aude Brac de la Perrière Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Groupement Hospitalier Est, Service d’endocrinologie, Bron, France

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Patricia Bretones Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France
Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France

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Hervé Lejeune Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de médecine de la reproduction, Bron, France
Université Claude Bernard, Lyon, France

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Marc Nicolino Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France
Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Université Claude Bernard, Lyon, France

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Pierre Mouriquand Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France
Université Claude Bernard, Lyon, France

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Daniela-Brindusa Gorduza Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France

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Claire-Lise Gay Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France
Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France

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patients’ sex of rearing ( 12 , 13 ), while a diagnosis made during infancy may lead to early change of sex of rearing ( 14 ). Diagnostic practices have significantly progressed over the past two decades. Laboratory diagnosis used to be guided by the

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0227
Volume/Issue:
Volume 12: Issue 3
Open access
Stefan Riedl Division of Pediatric Pulmology, Allergology and Endocrinology, Department of Pediatrics, Medical University of Vienna, Vienna, Austria
Department of Pediatrics, St. Anna Kinderspital, Medical University of Vienna, Vienna, Austria

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Friedrich-Wilhelm Röhl Department of Biometrics, Otto von Guericke Universität Magdeburg, Magdeburg, Germany

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Walter Bonfig Department of Pediatrics, Klinikum Wels-Grieskirchen, Wels, Austria

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Jürgen Brämswig Department of Pediatrics, Pediatric Endocrinology, Westfälische Wilhelmsuniversität Münster, Münster, Germany

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Annette Richter-Unruh Department of Pediatrics, Pediatric Endocrinology, Westfälische Wilhelmsuniversität Münster, Münster, Germany

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Susanne Fricke-Otto Department of Pediatrics, Pediatric Endocrinology, Helios Klinikum Krefeld, Krefeld, Germany

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Markus Bettendorf Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Ruprecht-Karls-Universität Heidelberg, Heidelberg, Germany

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Felix Riepe Pediatric Endocrinology, Kronshagen, Kiel, Germany

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Gernot Kriegshäuser Institute of Clinical Chemistry and Laboratory Medicine, General Hospital Steyr, Steyr, Austria

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Eckhard Schönau Department of Pediatrics, Pediatric Endocrinology, Universität zu Köln, Cologne, Germany

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Gertrud Even Department of Pediatrics, Pediatric Endocrinology, Universität zu Köln, Cologne, Germany

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Berthold Hauffa Department of Pediatric Endocrinology, University of Duisburg-Essen, Essen, Germany

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Helmuth-Günther Dörr Department of Pediatrics, Pediatric Endocrinology, Friedrich Alexander Universität Erlangen, Erlangen, Germany

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Reinhard W Holl Institute of Epidemiology and Medical Biometry (ZIBMT), University of Ulm, Ulm, Germany

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Klaus Mohnike Department of Pediatrics, Pediatric Endocrinology, Otto von Guericke Universität Magdeburg, Magdeburg, Germany

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the AQUAPE CAH Study Group
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lies on chromosome 6p in close proximity to its pseudogene ( CYP21A2P ), which is 96–98% homologous. Up to 75% of CAH mutations arise from the pseudogene by meiotic non-disjunction. Deletions (del) and CYP21A2/CYP21A2P chimeric genes account for the

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0281
Volume/Issue:
Volume 8: Issue 2
Open access
Xu-Feng Chen X Chen, Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China

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Cong He C He, Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China

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Peng-Cheng Yu P Yu, Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China

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Wei-Dong Ye W Ye, Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China

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Peizhen Han P Han, Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China

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Jia-Qian Hu J Hu, Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China

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Yulong Wang Y Wang, Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China

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Next-generation sequencing (NGS) is of great benefit to clinical practice in terms of identifying genetic alterations. This study aims to clarify the gene background and its influence on thyroid tumor in Chinese population. NGS data and corresponding clinicopathological features (sex, age, tumor size, extrathyroidal invasion, metastasis, multifocality and TNM stage) were collected and analyzed retrospectively from 2844 individual thyroid tumor samples during July 2021 to August 2022. 2337 (82%) of the cohort possess genetic alterations including BRAF (71%), RAS (4%), RET/PTC (4%), TERT (3%), RET (2.2%) and TP53 (1.4%). Diagnostic sensitivity before surgery can be significantly increased from 0.76 to 0.91 when cytology is supplemented by NGS. Our results show that BRAF positive papillary thyroid cancer (PTC) patients tend to have elder age, smaller tumor size, less vascular invasion, more frequent tumor multifocality and significantly higher cervical lymph node metastatic rate. Mutation at RET gene codon 918 and 634 is strongly correlated with medullary thyroid cancer (MTC), However it did not display more invasive clinical characteristics. TERT positive patients are more likely to have elder age, larger tumor size, more tumor invasiveness, and more advanced TNM stage, indicating poor prognosis. Patients with TERT, RET/PTC1 and CHEK2 mutation are more susceptible to lateral lymph node metastasis. In conclusion. NGS can be a useful tool which provides practical gene evidence in the process of diagnosis and treatment in thyroid tumors.

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-24-0301
Volume/Issue:
Accepted Manuscripts
Open access
Zherui Fu Department of Emergency, The First People’s Hospital of Xiaoshan District, Xiaoshan Affiliated Hospital of Wenzhou Medical University, Hangzhou, Zhejiang, China

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Yi Lai Department of Emergency, The First People’s Hospital of Xiaoshan District, Xiaoshan Affiliated Hospital of Wenzhou Medical University, Hangzhou, Zhejiang, China

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Qianfei Wang Department of Emergency, The First People’s Hospital of Xiaoshan District, Xiaoshan Affiliated Hospital of Wenzhou Medical University, Hangzhou, Zhejiang, China

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Feng Lin Department of Orthopedics, The First People's Hospital of Xiaoshan District, Xiaoshan Affiliated Hospital of Wenzhou Medical University, Hangzhou, Zhejiang, China

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Jiaping Fang Department of Emergency, The First People’s Hospital of Xiaoshan District, Xiaoshan Affiliated Hospital of Wenzhou Medical University, Hangzhou, Zhejiang, China

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subjected to STAR workflow and extracted in TPM format to obtain gene expression and clinical data. Data processing and visualization were performed using R software (R version 4.2.1), wherein clinically uninformative and duplicate data were removed. Based

Article Type:
Research Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-23-0418
Volume/Issue:
Volume 13: Issue 1
Open access
Qiuli Liu Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Gang Yuan Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Dali Tong Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Gaolei Liu Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Yuting Yi Geneplus-Beijing Institute, Beijing, People’s Republic of China

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Jun Zhang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Yao Zhang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Lin-ang Wang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Luofu Wang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Dianzheng Zhang Department of Bio-Medical Sciences, Philadelphia College of Osteopathic Medicine, Philadelphia, Pennsylvania, USA

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Rongrong Chen Geneplus-Beijing Institute, Beijing, People’s Republic of China

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Yanfang Guan Geneplus-Beijing Institute, Beijing, People’s Republic of China

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Xin Yi Geneplus-Beijing Institute, Beijing, People’s Republic of China

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Weihua Lan Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Jun Jiang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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patients were either diagnosed with VHL disease or showed strong evidence related to this disease. Based on one of the recent review articles ( 2 ), VHL is the only gene in which mutations are known to cause VHL disease and these patients have the

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0167
Volume/Issue:
Volume 7: Issue 7
Open access
Marilena Nakaguma Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Fernanda A Correa Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Lucas S Santana Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Anna F F Benedetti Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Ricardo V Perez Serviço de Endocrinologia, Hospital do Servidor Público Estadual de São Paulo, Instituto de Assistência Médica ao Servidor Público Estadual (HSPE-IAMSPE), São Paulo, Brasil

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Martha K P Huayllas Hospital de Transplantes Euryclides de Jesus Zerbini, São Paulo, Brasil

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Mirta B Miras Hospital de Niños Santísima Trinidad, Cordoba, Argentina

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Mariana F A Funari Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Antonio M Lerario Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Berenice B Mendonca Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Luciani R S Carvalho Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Alexander A L Jorge Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Ivo J P Arnhold Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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. sequenced 1077 genes in 192 patients (31 with CPHD) and found four pathogenic variants in PTPN11 and IGF1R genes ( 16 ). Hauer et al. sequenced 200 patients with short stature who underwent extensive prior endocrinological and diagnostic workup to

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0085
Volume/Issue:
Volume 8: Issue 5
Open access
Joakim Crona Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden

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Alberto Delgado Verdugo Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden

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Dan Granberg Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden

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Staffan Welin Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden

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Peter Stålberg Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden

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Per Hellman Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden

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Peyman Björklund Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden

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for diagnostic use has failed to keep up with the increasing demand. These 11 genes constitute 144 exons (∼25 000 bases); consequently, a comprehensive PCC and PGL genetic screening test can be time consuming and is not regarded as cost effective (12

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-13-0009
Volume/Issue:
Volume 2: Issue 2
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Ja Hye Kim Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Yunha Choi Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Soojin Hwang Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Ji-Hee Yoon Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Jieun Lee Department of Pediatrics, Ilsan Paik Hospital, Inje University College of Medicine, Goyang, Korea

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Min Jae Kang Department of Pediatrics, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang, Korea

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Gu-Hwan Kim Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Han-Wook Yoo Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Jin-Ho Choi Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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://doi.org/10.1530/EJE-17-0568 ) 39 Gach A Pinkier I Sałacińska K Szarras-Czapnik M Salachna D Kucińska A Rybak-Krzyszkowska M & Sakowicz A . Identification of gene variants in a cohort of hypogonadotropic hypogonadism: diagnostic utility of

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Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-22-0413
Volume/Issue:
Volume 12: Issue 5
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Zofia Kolesinska Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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James Acierno Jr Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland

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S Faisal Ahmed Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, UK

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Cheng Xu Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland

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Karina Kapczuk Division of Gynecology, Department of Perinatology and Gynecology, Poznan University of Medical Sciences, Poznan, Poland

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Anna Skorczyk-Werner Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland

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Hanna Mikos Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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Aleksandra Rojek Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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Andreas Massouras Saphetor, SA, Lausanne, Switzerland

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Maciej R Krawczynski Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland

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Nelly Pitteloud Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland

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Marek Niedziela Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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improved the diagnostic yield ( 6 , 9 ). While whole-exome and/or genome sequencing (WES/WGS) are still reserved for the research environment, targeted gene panels are becoming widely used in the diagnostic algorithms of 46,XY DSD on a routine basis ( 10

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0472
Volume/Issue:
Volume 7: Issue 12
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Huifei Sophia Zheng Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama

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Jeffrey G Daniel Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama

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Julia M Salamat Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama

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Laci Mackay Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama

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Chad D Foradori Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama

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Robert J Kemppainen Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama

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Satyanarayana R Pondugula Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama

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Ya-Xiong Tao Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama

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Chen-Che Jeff Huang Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama

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negative feedback from the hypothalamic–pituitary–adrenal (HPA) axis ( 2 ). Although GCs have non-genomic actions, they may still rapidly affect gene expression via different mechanisms such as mRNA destabilization and coactivator competition ( 3 , 4

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Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-22-0064
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Volume 11: Issue 8
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