Author(s): Reschke F, Biester T, von dem Berge T, Jamiolkowski D, Hasse L, Dassie F, Maffei P, Klee K, Kordonouri O, Ott H, Danne T

Affiliated Institution / ERN: Hannoversche Kinderheilanstalt ;

Condition / Disease: rare diabetes

Publication: Endocrine Connections v12.7 Year: 2023 ORPHAcode / other: ORPHA101952

DOI: 10.1530/ec-22-0410 Keywords: cutaneous effects of rare diabetes,rare dermatologic changes in endocrine disorders,rare endocrinopathies,rare types of diabetes

Author(s): Leiding JW, Vogel TP, Santarlas VG, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O’Sullivan M, Pachlopnik Schmid J, Průhová Å, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A, Aleshkevich S, Allende LM, Atkinson TP, Atschekzei F, Aydemir S, Aygunes U, Barlogis V, Baumann U, Belko J, Bezrodnik L, Biebl A, Broderick L, Bunin NJ, Caldirola MS, Castelle M, Celmeli F, Charbonnier L, Chatila TA, Chellapandian D, Cokugras H, Conlon N, Cox F, Crickx E, Dalgic B, ASH Dalm V, Danielian S, Dominguez-Pinilla N, Dujovny T, Ebbo M, Eken A, Esty B, Fabre A, Fischer A, Hannibal M, Huppert L, Ikeda MD, Jolles S, Jolly KW, Jones N, Kanariou M, Karakoc-Aydiner E, Karamantziani T, Kelaidi C, Keogan M, Pac Kisaarslan A, Kiykim A, Klocperk A, Kotsonis K, Kuzmenko N, Leroy S, Lianou D, Longhurst H, Lorenz MR, Maffucci P, Manson A, Marchal S, Malphettes M, Marega LF, Mauracher AA, Meesilpavikai K, Miller H, Mombourquette J, Morgan NG, Mukhina A, Nathalie A, Nelken B, Nolan D, Norlin A, Oleastro M, Ozcan A, Pasquet M, Pegler JR, Picard C, Polychronopoulou S, Quartier P, Quesada JF, Ramakers J, Randall KL, Rao VK, Remiker A, Resin G, Richmond P, Rieux-Laucat F, Rodina Y, Rohrlich P, Sachs J, Sakovich I, Santarlas C, Sari S, Sawicki G, Schauer U, Scheffler Mendoza SC, Schvetz O, Schmidt RE, Schwarz K, Sediva A, Sinclair K, Slatter M, Sleasman J, Stergiou K, Suratannon N, Tanita K, Thompson G, Travis S, Trojan T, Tsinti M, Unal E, Urdinez L, Vazquez-Gomez F, Villa M, Weinrich M, Weiss MJ, Wright B, Yilmaz E, Zachova R, Zhang Y, Seppänen MR, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR

Affiliated Institution / ERN: University Hospital Motol ; AOU-Bologna ;

Condition / Disease: monogenic autoimmunity

Publication: Journal of Allergy and Clinical Immunology v151.4 p1081-1095 Year: 2023 ORPHAcode / other: ORPHA438159

DOI: 10.1016/j.jaci.2022.09.002 Keywords: STAT3,autoimmunity,cytopenia,gain of function,immune dysregulation,immunodeficiency,lymphoproliferation,precision medicine

Author(s): Simstich S, Züllig T, D'Aurizio F, Biasotto A, Colao A, Isidori AM, Lenzi A, Fauler G, Köfeler HC, Curcio F, Herrmann M

Affiliated Institution / ERN: AOU Federico II - Naples ;

Condition / Disease: acromegaly and GH deficiency

Publication: Clinical Biochemistry v114 p95-102 Year: 2023 ORPHAcode / other: ORPHA963

DOI: 10.1016/j.clinbiochem.2023.02.008 Keywords: Hormone,Insulin-like Growth Factor 1 (IGF-1),Liquid Chromatography High-Resolution Mass Spectrometry (LC-HRMS),Online Solid Phase Extraction (OSPE),Peptide,Quantification,Serum

Author(s): Binder G, Weber K, Peter A, Schweizer R

Affiliated Institution / ERN: Universitätsklinikum Tübingen ;

Condition / Disease: AVP deficiency

Publication: Clinical Endocrinology v98.4 p548-553 Year: 2023 ORPHAcode / other: ORPHA101957; ORPHA30925;

DOI: 10.1111/cen.14880 Keywords: arginine,central diabetes insipidus,copeptin,polydipsia,polyuria,short stature

Author(s): Hasenmajer V, Ferrigno R, Minnetti M, Pellegrini B, Isidori AM, Lenzi A, Salerno M, Cappa M, Chan L, De Martino MC, Savage MO

Affiliated Institution / ERN:

Condition / Disease: genetic paediatric adrenal insufficiency

Publication: Reviews in Endocrine and Metabolic Disorders v24.2 p345-363 Year: 2023 ORPHAcode / other: ORPHA101958;ORPHA101959; ORPHA101960; ORPHA418; ORPHA869;

DOI: 10.1007/s11154-023-09784-7 Keywords: Addison,Adrenal insufficiency,Adrenoleukodystrophy,Aldosteron,Aldosterone Synthase,Allgrove syndrome,Cortisol,Familial glucocorticoid deficiency,Intrauterine growth retardation syndromes,Pseudohypoaldosteronism,Steroidogenesis,Triple A syndrome

Author(s): Coutant R, Tauber M, Demaret B, Henocque R, Brault Y, Montestruc F, Chassany O, Polak M

Affiliated Institution / ERN: CHU d'Angers ;

Condition / Disease:

Publication: Endocrine Connections Volume 12: Issue 4 Year: 2023 ORPHAcode / other:

DOI: 10.1530/ec-22-0464 Keywords:

Author(s): Schweizer R, Mayer J, Binder G

Affiliated Institution / ERN: Universitätsklinikum Tübingen ;

Condition / Disease: Turner syndrome

Publication: Journal of Pediatric Endocrinology and Metabolism v36.3 p270-277 Year: 2023 ORPHAcode / other: ORPHA:881

DOI: 10.1515/jpem-2022-0516 Keywords: SHOX deficiency,Turner syndrome,bone development,muscle,osteoporosis

Author(s): Dahir KM, Kishnani PS, Martos-Moreno GÃ, Linglart A, Petryk A, Rockman-Greenberg C, Martel SE, Ozono K, Högler W, Seefried L

Affiliated Institution / ERN: Hôpital Bicêtre ;

Condition / Disease: Hypophosphatasia

Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other: ORPHA436

DOI: 10.3389/fendo.2023.1138599 Keywords: 6MWT,SF-36,alkaline phosphatase,fracture,health-related quality of life,mobility,pseudofracture,rare diseases

Author(s): Stachanow V, Neumann U, Blankenstein O, Alder-Baerens N, Bindellini D, Hindmarsh P, Ross RJ, Whitaker MJ, Melin J, Huisinga W, Michelet R, Kloft C

Affiliated Institution / ERN: Charité Universitätsmedizin Berlin ;

Condition / Disease: Congenital Adrenal Hyperplasia

Publication: Pharmaceuticals v16.3 p464 Year: 2023 ORPHAcode / other: ORPHA418

DOI: 10.3390/ph16030464 Keywords: 17α-hydroxyprogesterone,congenital adrenal hyperplasia,dried blood spots,pediatrics,pharmacometrics,target concentration range

Author(s): Zheng Y, Rajcsanyi LS, Kowalczyk M, Giuranna J, Herpertz-Dahlmann B, Seitz J, de Zwaan M, Herzog W, Ehrlich S, Zipfel S, Giel K, Egberts K, Burghardt R, Föcker M, Al-Lahham S, Hebebrand J, Fuhrer D, Tan S, Zwanziger D, Peters T, Hinney A

Affiliated Institution / ERN: University Hospital Essen ;

Condition / Disease: lipocalin 2; Non-Syndromic Genetic Obesity

Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other: ORPHA179490

DOI: 10.3389/fendo.2023.1137308 Keywords: Energy homeostasis,GWAS,bone marrow,lean body mass (LBM),secondary structure of protein

Author(s): Markou M, Lavrentaki A, Ntali G

Affiliated Institution / ERN: Evangelismos General Hospital ;

Condition / Disease: pituitary adenomas

Publication: Faculty Reviews v12 Year: 2023 ORPHAcode / other: ORPHA99408

DOI: 10.12703/r/12-6 Keywords: Pituitary adenomas,medical treatment,radiotherapy,targeted systemic treatment,transsphenoidal neurosurgery,tumorigenesis

Author(s): Howard SR, Fanis P, Nicolaides NC, Grandone A

Affiliated Institution / ERN: Cyprus Institute of Neurology and Genetics ;

Condition / Disease: Puberty

Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other:

DOI: 10.3389/fendo.2023.1178888 Keywords: Klinefelter syndrome,central precocious puberty (CPP),congenital hypogonadotropic hypogonadism,delayed puberty onset,epigenetics,puberty

Author(s): Alessandra Mangone, Barbara Altieri, Mario Detomas, Alessandro Prete, Haider Abbas, Miriam Asia, Yasir S Elhassan, Giovanna Mantovani, Cristina L Ronchi

Affiliated Institution / ERN: Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; University Hospital Würzburg ;

Condition / Disease: Adrenocortical carcinoma (ACC)

Publication: Endocrine-Related Cancer Volume 30: Issue 4 Year: 2023 ORPHAcode / other: ORPHA1501

DOI: 10.1530/ERC-22-0372 Keywords: EDP; adrenal cancer, chemotherapy, mitotane, neutrophil–lymphocyte ratio, platinum, prognosis

Author(s): Hughes AE, De Franco E, Freathy RM, Flanagan SE, Hattersley AT

Affiliated Institution / ERN: University Hospital Motol ;

Condition / Disease: neonatal diabetes

Publication: Journal of Clinical Investigation v133.6 Year: 2023 ORPHAcode / other: ORPHA183625; ORPHA101952

DOI: 10.1172/jci165402 Keywords: Beta cells,Development,Endocrinology,Insulin,Obstetrics/gynecology

Author(s): Högler W, Linglart A, Petryk A, Kishnani PS, Seefried L, Fang S, Rockman-Greenberg C, Ozono K, Dahir K, Martos-Moreno GÃ

Affiliated Institution / ERN: Hôpital Bicêtre ;

Condition / Disease: Hypophosphatasia

Publication: Endocrine Connections v12.5 Year: 2023 ORPHAcode / other: ORPHA436

DOI: 10.1530/ec-22-0240 Keywords: body mass index,growth,height,hypophosphatasia,registry

Author(s): Nowotny HF, Bryce J, Ali SR, Giordano R, Baronio F, Chifu I, Tschaidse L, Cools M, van den Akker EL, Falhammar H, Appelman-Dijkstra NM, Persani L, Beccuti G, Ross IL, Grozinsky-Glasberg S, Pereira AM, Husebye ES, Hahner S, Faisal Ahmed S, Reisch N

Affiliated Institution / ERN: Leiden University Medical Center ; Ghent University Hospital ; Bergen Hospital Trust ;

Condition / Disease: CAH; Adrenal insufficiency; COVID-19;

Publication: Endocrine Connections Volume 12: Issue 4 Year: 2023 ORPHAcode / other: ORPHA418

DOI: 10.1530/ec-22-0416 Keywords: Cushing’s syndrome,SARS-CoV-2,adrenal insufficiency,glucocorticoids

Author(s): Driessens N, Prasai M, Alexopoulou O, De Block C, Van Caenegem E, T’Sjoen G, Nobels F, Ghys C, Vroonen L, Jonas C, Corvilain B, Maiter D

Affiliated Institution / ERN: Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; University Hospitals Saint-Luc ; Ghent University Hospital ; UZ Antwerpen ; UZ Brussels ; University Hospital Liège ;

Condition / Disease: Chronic adrenocorticoid insufficiency

Publication: Endocrine Connections v12.6 Year: 2023 ORPHAcode / other: ORPHA101959

DOI: 10.1530/EC-23-0044 Keywords: glucocorticoid replacement,national survey,primary adrenal insufficiency

Author(s): Driessens N, Prasai M, Alexopoulou O, De Block C, Van Caenegem E, T’Sjoen G, Nobels F, Ghys C, Vroonen L, Jonas C, Corvilain B, Maiter D

Affiliated Institution / ERN: UZ Antwerpen ; University Hospitals Saint-Luc ; Ghent University Hospital ; Cyprus Institute of Neurology and Genetics ; Copenhagen University Hospital, Rigshospitalet ; Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;

Condition / Disease: primary adrenal insufficiency, DSD, Congenital Adrenal Hyperplasia

Publication: Endocrine Connections v12.6 Year: 2023 ORPHAcode / other: ORPHA101958

DOI: 10.1530/ec-23-0044 Keywords: glucocorticoid replacement,national survey,primary adrenal insufficiency

Author(s): Cotellessa L, Marelli F, Duminuco P, Adamo M, Papadakis GE, Bartoloni L, Sato N, Lang-Muritano M, Troendle A, Dhillo WS, Morelli A, Guarnieri G, Pitteloud N, Persani L, Bonomi M, Giacobini P, Vezzoli V

Affiliated Institution / ERN: AOU-Bologna ;

Condition / Disease: Congenital hypogonadotropic Hypogonadism

Publication: JCI Insight v8.5 Year: 2023 ORPHAcode / other: ORPHA174590

DOI: 10.1172/jci.insight.161998 Keywords: Development,Fertility,Genetic diseases,Genetics,Neurodevelopment

Author(s): Phillip M, Nimri R, Bergenstal RM, Barnard-Kelly K, Danne T, Hovorka R, Kovatchev BP, Messer LH, Parkin CG, Ambler-Osborn L, Amiel SA, Bally L, Beck RW, Biester S, Biester T, Blanchette JE, Bosi E, Boughton CK, Breton MD, Brown SA, Buckingham BA, Cai A, Carlson AL, Castle JR, Choudhary P, Close KL, Cobelli C, Criego AB, Davis E, de Beaufort C, de Bock MI, DeSalvo DJ, DeVries JH, Dovc K, Doyle FJ, Ekhlaspour L, Shvalb NF, Forlenza GP, Gallen G, Garg SK, Gershenoff DC, Gonder-Frederick LA, Haidar A, Hartnell S, Heinemann L, Heller S, Hirsch IB, Hood KK, Isaacs D, Klonoff DC, Kordonouri O, Kowalski A, Laffel L, Lawton J, Lal RA, Leelarathna L, Maahs DM, Murphy HR, Nørgaard K, O’Neal D, Oser S, Oser T, Renard E, Riddell MC, Rodbard D, Russell SJ, Schatz DA, Shah VN, Sherr JL, Simonson GD, Wadwa RP, Ward C, Weinzimer SA, Wilmot EG, Battelino T

Affiliated Institution / ERN: Centre Hospitalier de Luxembourg ; University Medical Centre Ljubljana ;

Condition / Disease: diabetes

Publication: Endocrine Reviews v44.2 p254-280 Year: 2023 ORPHAcode / other:

DOI: 10.1210/endrev/bnac022 Keywords: automated insulin delivery,closed-loop,consensus recommendations,type 1 diabetes

Author(s): Coutant R, Tauber M, Demaret B, Henocque R, Brault Y, Montestruc F, Chassany O, Polak M, _ _

Affiliated Institution / ERN: CHU d'Angers ;

Condition / Disease: growth hormone deficiency (GHD)

Publication: Endocrine Connections v12.4 Year: 2023 ORPHAcode / other: ORPHA631; ORPHA101957;

DOI: 10.1530/ec-22-0464 Keywords: growth hormone deficiency,patient-reported outcomes,quality of life,recombinant growth hormone,treatment burden

Author(s): Gosseaume C, Fournier T, Jéru I, Vignaud M, Missotte I, Archambeaud F, Debussche X, Droumaguet C, Fève B, Grillot S, Guerci B, Hieronimus S, Horsmans Y, Nobécourt E, Pienkowski C, Poitou C, Thissen J, Lascols O, Degrelle S, Tsatsaris V, Vigouroux C, Vatier C

Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;

Condition / Disease: Genetic lipodystrophy

Publication: European Journal of Endocrinology v188.3 p273-281 Year: 2023 ORPHAcode / other: ORPHA98305

DOI: 10.1093/ejendo/lvad023 Keywords: PPARG,homozygous PPARG variant‌,lipodystrophy,placenta,pregnancy

Author(s): Pasquali D, Torella A, Grandone A, Luongo C, Morleo M, Peduto C, di Fraia R, Selvaggio LD, Allosso F, Accardo G, Zanobio MT, Maitz S, Mariani M, Selicorni A, Banfi S, Nigro V

Affiliated Institution / ERN: AOU University of Campania "Luigi Vanvitelli", Naples ; ERN BOND ;

Condition / Disease: Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy

Publication: American Journal of Medical Genetics Part A v191.3 p823-830 Year: 2023 ORPHAcode / other: ORPHA466943

DOI: 10.1002/ajmg.a.63061 Keywords: hirsutism,hyperandrogenism,hypertrichosis,mild dysmorphic features,novel WAC pathogenic variant

Author(s): Pauwels E, Celen S, Baete K, Koole M, Bechter O, Bex M, Renard M, Clement PM, Jentjens S, Serdons K, Van Laere K, Bormans G, Deroose CM

Affiliated Institution / ERN: UZ Leuven ;

Condition / Disease: Neural crest tumour

Publication: European Journal of Nuclear Medicine and Molecular Imaging v50.4 p1134-1145 Year: 2023 ORPHAcode / other: ORPHA276621; ORPHA276624

DOI: 10.1007/s00259-022-06046-7 Keywords: Neuroblastoma,Norepinephrine transporter,PET,Phaeochromocytoma,[123I]MIBG,[18F]MFBG

Author(s): De Herdt C, De Block C, Francque S, Verrijken A, Van Dessel K, Van Gaal L, Van Cauwenberghe J, Dirinck E

Affiliated Institution / ERN: UZ Antwerpen ;

Condition / Disease:

Publication: Endocrine v80.1 p54-63 Year: 2023 ORPHAcode / other:

DOI: 10.1007/s12020-022-03245-y Keywords: Adiposity,Fibrosis,Liver biopsy,Men,NAFLD,Testosterone

Author(s): Savova MS, Mihaylova LV, Tews D, Wabitsch M, Georgiev MI

Affiliated Institution / ERN: Ulm University Medical Center ;

Condition / Disease: PI3K/AKT signaling pathway, obesity

Publication: Biomedicine & Pharmacotherapy v159 p114244 Year: 2023 ORPHAcode / other: ORPHA240371; ORPHA98267;

DOI: 10.1016/j.biopha.2023.114244 Keywords: AKT,Alpelisib (PubChem CID: 56649450),Amentoflavone (PubChem CID: 5281600),Astragaloside IV (PubChem CID: 13943297),Betulinic acid (PubChem CID: 64971),Capsaicin (PubChem CID: 1548943),Carbenoxolone (PubChem CID: 636403),Catalpol (PubChem CID: 91520),Celastrol (PubChem CID: 122724),Druggability,Epigallocatechin gallate (PubChem CID: 650464),Ginsenoside Rb2 (PubChem CID: 6917976),Glycyrrhetinic acid (PubChem CID: 10114),Isoliquiritigenin (PubChem CID: 638278),Kaempferol (PubChem CID: 5280863),Maackiain (PubChem CID: 91510),Natural compounds,Nigelladine A (PubChem CID: 86302612),Nigelladine B (PubChem CID: 86302611),Nigelladine C (PubChem CID: 86302610),Obesity,Ononin (PubChem CID: 442813),Orientin (PubChem CID: 5281675),Oxyberberine (PubChem CID: 11066),PI3K,Pharmacotherapy

Author(s): Cosme I, Marques P, Bugalho MJ

Affiliated Institution / ERN: Unidade Local de Saúde de Santa Maria(ULS de Santa Maria) ;

Condition / Disease: Acromegaly

Publication: Medicina Clínica v160.5 p227-228 Year: 2023 ORPHAcode / other: ORPHA963

DOI: 10.1016/j.medcli.2022.10.003 Keywords:

Author(s): Houillier P, Lievre L, Hureaux M, Prot‐Bertoye C

Affiliated Institution / ERN: Reference centre for rare diseases of calcium and phosphate-HEGP ;

Condition / Disease:

Publication: Annals of the New York Academy of Sciences v1521.1 p14-31 Year: 2023 ORPHAcode / other: ORPHA306516

DOI: 10.1111/nyas.14953 Keywords: HELIX syndrome,claudin,familial hypomagnesemia with hypercalciuria and nephrocalcinosis,paracellular ion transport,tight junction

Author(s): Gravholt CH, Ferlin A, Gromoll J, Juul A, Raznahan A, van Rijn S, Rogol AD, Skakkebæk A, Tartaglia N, Swaab H

Affiliated Institution / ERN: Aarhus University Hospital ;

Condition / Disease: Klinefelter

Publication: Endocrine Connections v12.3 Year: 2023 ORPHAcode / other: ORPHA484

DOI: 10.1530/ec-22-0500 Keywords: 47,XYY syndrome,Klinefelter syndrome,anti-Mullerian hormone,testosterone,trisomy X syndrome

Author(s): Fanis P, Skordis N, Phylactou LA, Neocleous V

Affiliated Institution / ERN: Cyprus Institute of Neurology and Genetics ;

Condition / Disease: Congenital Adrenal Hyperplasia

Publication: Hormones v22.1 p71-77 Year: 2023 ORPHAcode / other: ORPHA418

DOI: 10.1007/s42000-022-00410-w Keywords: 21-hyrdroxylase deficiency,CAH,CAH-X syndrome,CYP21A2,Contiguous gene syndrome,Ehlers-Danlos syndrome,TNXA/TNXB chimeric gene,Virilization