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Endo-ERN Publications Database

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1008 publication(s) found matching the search criteria

An update on the long-term outcomes of prenatal dexamethasone treatment in congenital adrenal hyperplasia


Author(s): van’t Westeinde A, Karlsson L, Messina V, Wallensteen L, Brösamle M, Dal Maso G, Lazzerini A, Kristensen J, Kwast D, Tschaidse L, Auer MK, Nowotny HF, Persani L, Reisch N, Lajic S
Affiliated Institution / ERN: IRCCS Auxologico Italian Institute - Milan ; Klinikum der Universität München ;
Condition / Disease: Congenital Adrenal Hyperplasia
Publication: Endocrine Connections Volume 12: Issue 4 Year: 2023 ORPHAcode / other: ORPHA418
DOI: 10.1530/ec-22-0400 Keywords: CAH,brain development,dexamethasone,first trimester,prenatal treatment,treatment safety

An update on the long-term outcomes of prenatal dexamethasone treatment in congenital adrenal hyperplasia


Author(s): van’t Westeinde A, Karlsson L, Messina V, Wallensteen L, Brösamle M, Dal Maso G, Lazzerini A, Kristensen J, Kwast D, Tschaidse L, Auer MK, Nowotny HF, Persani L, Reisch N, Lajic S
Affiliated Institution / ERN: Karolinska University Hospital ; Charité Universitätsmedizin Berlin ; Aarhus University Hospital ; Antonio Cardarelli Hospital - Naples ;
Condition / Disease: Congenital Adrenal Hyperplasia
Publication: Endocrine Connections v12.4 Year: 2023 ORPHAcode / other: ORPHA418
DOI: 10.1530/EC-22-0400 Keywords: CAH,brain development,dexamethasone,first trimester,prenatal treatment,treatment safety

Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis


Author(s): Ertl D, Mantovani G, de Nanclares GP, Elli FM, Pereda A, Pagnano A, Sanchis A, Cueto-Gonzalez AM, Berrade S, León MC, Rothenbuhler A, Audrain C, Berkenou J, Knight N, Dolman K, Gleiss A, Argente J, Linglart A
Affiliated Institution / ERN: Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;
Condition / Disease: Acrodysostosis Type 2 (iPPSD5)
Publication: Journal of Endocrinological Investigation v46.8 p1673-1684 Year: 2023 ORPHAcode / other: ORPHA950
DOI: 10.1007/s40618-023-02026-2 Keywords: Acrodysostosis,Auxology,Inactivating PTH/PTHrP signaling disorders,Pediatric,Recombinant human growth hormone,SGA,Short stature

Prader–Willi syndrome: Symptoms and topiramate response in light of genetics


Author(s): Louveau C, Turtulici M, Consoli A, Poitou C, Coupaye M, Krebs M, Chaumette B, Iftimovici A
Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease: Prader Willi syndrome
Publication: Frontiers in Neuroscience v17 Year: 2023 ORPHAcode / other: ORPHA739
DOI: 10.3389/fnins.2023.1126970 Keywords: Prader–Willi,deletion,disomy,genetics,personalized medicine,topiramate,treatment

Development of a pediatric differentiated thyroid carcinoma registry within the EuRRECa project: rationale and protocol


Author(s): Clement SC, Visser WE, Lebbink CA, Albano D, Claahsen-van der Grinten HL, Czarniecka A, Dias RP, Dierselhuis MP, Dzivite-Krisane I, Elisei R, Garcia-Burillo A, Izatt L, Kanaka-Gantenbein C, Krude H, Lamartina L, Lorenz K, Luster M, Navardauskaitė R, Negre Busó M, Newbold K, Peeters RP, Pellegriti G, Piccardo A, Priego AL, Redlich A, de Sanctis L, Sobrinho-Simões M, van Trotsenburg ASP, Verburg FA, Vriens M, Links TP, Ahmed SF, van Santen HM
Affiliated Institution / ERN: Unidade Local de Saúde de Santa Maria(ULS de Santa Maria) ; University Medical Center Groningen ; University Medical Center Utrecht ; Amsterdam UMC ; Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; Aghia Sophia Children’s Hospital ; Charité Universitätsmedizin Berlin ; AO City of Health and Science - Turin ;
Condition / Disease: Pediatric Thyroid cancer
Publication: Endocrine Connections Volume 12: Issue 3 Year: 2023 ORPHAcode / other: ORPHA146
DOI: 10.1530/ec-22-0306 Keywords: DTC,childhood,registry,thyroid carcinoma

Prospective evaluation of multidimensional health‐related quality of life after endoscopic endonasal surgery for pituitary adenomas using the endoscopic endonasal sinus and skull base surgery questionnaire


Author(s): Joustra GE, ten Dam E, Vermeulen KM, Korsten‐Meijer AGW, Appelman APA, Feijen RA
Affiliated Institution / ERN: University Medical Center Groningen ;
Condition / Disease: Acromegaly
Publication: Laryngoscope Investigative Otolaryngology v8.1 p7-15 Year: 2023 ORPHAcode / other: ORPHA963
DOI: 10.1002/lio2.1004 Keywords: anterior skull base,endoscopic endonasal sinus and Skull Base surgery questionnaire (EES‐Q),endoscopic skull base surgery,patient reported outcome measure,quality of life

Pituitary enlargement in patients with cerebrospinal fluid drainage due to ventricular shunt insertion: know the condition and do not mistake for adenoma


Author(s): Grzywotz A, Li Y, Unger N, Kiewert C, Chmielewski WX, Sure U, Uerschels A, Wrede K, Kreitschmann-Andermahr I
Affiliated Institution / ERN: University Hospital Essen ;
Condition / Disease: Pituitary adenoma
Publication: Pituitary v26.1 p164-170 Year: 2023 ORPHAcode / other: ORPHA99408
DOI: 10.1007/s11102-022-01296-y Keywords: CSF pressure,ICP,Pituitary enlargement,Pituitary hyperplasia,Shunt insertion

Teplizumab approval for type 1 diabetes in the USA


Author(s): Beran D, Abidha C, Adler A, de Beaufort C, Lepeska M, Levitt N, Pfiester E, Zafra-Tanaka JH, Gale EA
Affiliated Institution / ERN: Centre Hospitalier de Luxembourg ;
Condition / Disease: diabetes type 1; Teplizumab;
Publication: The Lancet Diabetes & Endocrinology v11.2 p78-80 Year: 2023 ORPHAcode / other:

Fluctuations in Thyroid Hormone Levels During Initial Treatment for Differentiated Thyroid Carcinoma are Associated with Changes in Hemostasis: A Prospective Cohort Study


Author(s): Links MH, Lefrandt JD, Lisman T, van der Boom T, Lukens MV, Meijer K, Links TP, Zandee WT
Affiliated Institution / ERN: University Medical Center Groningen ;
Condition / Disease: Thyroid cancer
Publication: Thyroid v33.2 p203-213 Year: 2023 ORPHAcode / other: ORPHA146
DOI: 10.1089/thy.2022.0299 Keywords: TH withdrawal,THST,cardiovascular risk,differentiated thyroid carcinoma,hemostasis,thrombosis

Effects of treatment for diabetes mellitus on testosterone concentrations: A systematic review


Author(s): Van Cauwenberghe J, De Block C, Vanderschueren D, Antonio L
Affiliated Institution / ERN: UZ Antwerpen ;
Condition / Disease: testosterone and diabetes
Publication: Andrology v11.2 p225-233 Year: 2023 ORPHAcode / other:
DOI: 10.1111/andr.13318 Keywords: GLP1 receptor analogues,antidiabetic agents,antihyperglycemic agents,functional hypogonadism,hypogonadism,obesity

Continuous glucose monitoring‐based time‐in‐range using insulin glargine 300 units/ml versus insulin degludec 100 units/ml in type 1 diabetes: The head‐to‐head randomized controlled InRange trial


Author(s): Battelino T, Danne T, Edelman SV, Choudhary P, Renard E, Westerbacka J, Mukherjee B, Pilorget V, Coudert M, Bergenstal RM
Affiliated Institution / ERN: University Medical Centre Ljubljana ;
Condition / Disease: Diabetes mellitus
Publication: Diabetes, Obesity and Metabolism v25.2 p545-555 Year: 2023 ORPHAcode / other:
DOI: 10.1111/dom.14898 Keywords: basal insulin,continuous glucose monitoring,glycaemic control,insulin analogues,randomized trial,type 1 diabetes

In Search of the Hyperglycemic Threshold Required to Induce Growth Hormone (GH) Suppression


Author(s): Bugalho MJ, Lopes-Pinto M, Lemos C, Nobre E
Affiliated Institution / ERN: Unidade Local de Saúde de Santa Maria(ULS de Santa Maria) ;
Condition / Disease: Acromegaly
Publication: Cureus doi:10.7759/cureus.34463 Year: 2023 ORPHAcode / other: ORPHA963
DOI: 10.7759/cureus.34463 Keywords: acromegaly,growth hormone,hyperglycemia,oral glucose tolerance test,suppression test

Adherence to Acromegaly Treatment and Analysis of the Related Factors—A Real-World Study in Bulgaria


Author(s): Kamusheva M, Vandeva S, Mitov K, Parvanova A, Pesheva M, Ganov N, Rusenova Y, Marinov L, Getova V, Elenkova A, Petrova G
Affiliated Institution / ERN: USHATE “ACAD IVAN Penchev” ;
Condition / Disease: Acromegaly
Publication: Pharmaceutics v15.2 p438 Year: 2023 ORPHAcode / other: ORPHA963
DOI: 10.3390/pharmaceutics15020438 Keywords: Bulgaria,acromegaly,adherence

Multicentric Italian case–control study on 25OH vitamin D levels in children and adolescents with Prader-Willi syndrome


Author(s): Panfili FM, Convertino A, Grugni G, Mazzitelli L, Bocchini S, Crinò A, Campana G, Cappa M, Delvecchio M, Faienza MF, Licenziati MR, Mariani M, Osimani S, Pajno R, Patti G, Rutigliano I, Sacco M, Scarano E, Fintini D
Affiliated Institution / ERN: AOU-Bologna ;
Condition / Disease: Prader-Willi syndrome
Publication: Journal of Endocrinological Investigation v46.7 p1397-1406 Year: 2023 ORPHAcode / other: ORPHA739
DOI: 10.1007/s40618-022-01990-5 Keywords: 25OHD,GH therapy,Insulin resistance,Obesity,Prader-Willi syndrome,Vitamin D

Multicentric Italian case–control study on 25OH vitamin D levels in children and adolescents with Prader-Willi syndrome


Author(s): Panfili FM, Convertino A, Grugni G, Mazzitelli L, Bocchini S, Crinò A, Campana G, Cappa M, Delvecchio M, Faienza MF, Licenziati MR, Mariani M, Osimani S, Pajno R, Patti G, Rutigliano I, Sacco M, Scarano E, Fintini D
Affiliated Institution / ERN: San Raffaele hospital - Milan ;
Condition / Disease: Prader-Willi syndrome
Publication: Journal of Endocrinological Investigation v46.7 p1397-1406 Year: 2023 ORPHAcode / other: ORPHA739
DOI: 10.1007/s40618-022-01990-5 Keywords: 25OHD,GH therapy,Insulin resistance,Obesity,Prader-Willi syndrome,Vitamin D

Mapping of the current transition of care practice for patients with pituitary disease at Endo-ERN reference centers


Author(s): Shishkov SR, Tuccillo L, Iotova VM, Pivonello R, Pelsma IC, Pereira AM, Biermasz NR, and the Endo-ERN Reference Centers of the Main Thematic Group: Hypothalmic and Pituitary Conditions, Endo-ERN Pituitary Transition of Care Study Group
Affiliated Institution / ERN: UMHAT “Sveta Marina” (Varna) ; Leiden University Medical Center ;
Condition / Disease: pituitary conditions; transition survey;
Publication: Endocrine Connections Volume 12: Issue 2 Year: 2023 ORPHAcode / other: ORPHA99408; ORPHA95502
DOI: 10.1530/ec-22-0308 Keywords: Endo-ERN,pituitary disease,quality of care,survey,transition of care

Methylation status of hypothalamic Mkrn3 promoter across puberty


Author(s): Fanis P, Morrou M, Tomazou M, Michailidou K, Spyrou GM, Toumba M, Skordis N, Neocleous V, Phylactou LA
Affiliated Institution / ERN: Cyprus Institute of Neurology and Genetics ;
Condition / Disease: Central Precocious Puberty
Publication: Frontiers in Endocrinology v13 Year: 2023 ORPHAcode / other: ORPHA650182
DOI: 10.3389/fendo.2022.1075341 Keywords: CpG island,DNA methylation,MKRN3,promoter,puberty timing

Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome


Author(s): Hendricks LAJ, Hoogerbrugge N, Mensenkamp AR, Brunet J, Lleuger-Pujol R, Høberg-Vetti H, Tveit Haavind M, Innella G, Turchetti D, Aretz S, Spier I, Tischkowitz M, Jahn A, Links TP, Olderode-Berends MJW, Blatnik A, Leter EM, Evans DG, Woodward ER, Steinke-Lange V, Anastasiadou VC, Colas C, Villy M, Benusiglio PR, Gerasimenko A, Barili V, Branchaud M, Houdayer C, Tesi B, Yazicioglu MO, van der Post RS, Schuurs-Hoeijmakers JHM, van Hest LP, Adank MA, Duijkers F, Nielsen M, Verbeek KCJ, van Ierland Y, Giltay JC, Vos JR, Vos JR
Affiliated Institution / ERN: University Medical Center Groningen ;
Condition / Disease: Familial Genetic Tumour Syndromes
Publication: JNCI: Journal of the National Cancer Institute v115.1 p93-103 Year: 2023 ORPHAcode / other: ORPHA306498
DOI: 10.1093/jnci/djac188 Keywords:

Pre-Surgery Patient Health Contributes to Aggravated Sino-Nasal Outcome and Quality of Life after Pituitary Adenomectomy


Author(s): Chmielewski WX, Walbrodt S, Rauschenbach L, Chihi M, Gembruch O, Darkwah Oppong M, Schroer S, Wrede KH, Dammann P, Jabbarli R, Kreitschmann-Andermahr I, Sato T, Unger N, Mattheis S, Sure U, Ahmadipour Y
Affiliated Institution / ERN: University Hospital Essen ;
Condition / Disease: pituitary adenoma
Publication: Medicina v59.1 p127 Year: 2023 ORPHAcode / other: ORPHA99408
DOI: 10.3390/medicina59010127 Keywords: adenomectomy,health-related quality of life,pituitary adenoma,pre-surgery patient health,sino-nasal health

Pediatric growth hormone and prolactin-secreting tumor associated with an AIP mutation and a MEN1 variant of uncertain significance


Author(s): Alexandre MI, Faria CC, Gomes A, Bugalho MJ
Affiliated Institution / ERN: Unidade Local de Saúde de Santa Maria(ULS de Santa Maria) ;
Condition / Disease: Pediatric growth hormone and prolactin secreting tumour
Publication: Journal of Pediatric Endocrinology and Metabolism v0.0 Year: 2023 ORPHAcode / other: ORPHA2965
DOI: 10.1515/jpem-2022-0488 Keywords: genetic testing,gigantism,growth hormone

Deescalating Follow-up After Hemithyroidectomy for Patients With Low-risk Papillary Thyroid Microcarcinoma


Author(s): van Dijk SPJ, Coerts HI, Lončar I, Verhoef C, Kruijff S, Engelsman AF, Peeters RP, van Ginhoven TM
Affiliated Institution / ERN: University Medical Center Groningen ;
Condition / Disease: Follicular thyroid carcinoma
Publication: JAMA Otolaryngology–Head & Neck Surgery v149.1 p42 Year: 2023 ORPHAcode / other: ORPHA146
DOI: 10.1001/jamaoto.2022.3686 Keywords:

Type 1 diabetes mellitus prevention


Author(s): Groele L, Szypowska A
Affiliated Institution / ERN: Public Pediatric Teaching Hospital ;
Condition / Disease: diabetes type 1
Publication: Pediatric Endocrinology Diabetes and Metabolism v29.4 p209-213 Year: 2023 ORPHAcode / other:
DOI: 10.5114/pedm.2023.134130 Keywords: b cell.,prevention,diabetes mellitus

Multi-omic integration reveals cell-type-specific regulatory networks of insulin resistance in distinct ancestry populations


Author(s): Xu P, Wang M, Sharma NK, Comeau ME, Wabitsch M, Langefeld CD, Civelek M, Zhang B, Das SK
Affiliated Institution / ERN: Ulm University Medical Center ;
Condition / Disease: Insulin-resistance syndrome
Publication: Cell Systems v14.1 p41-57.e8 Year: 2023 ORPHAcode / other: ORPHA181368
DOI: 10.1016/j.cels.2022.12.005 Keywords: African American,European American,adipose,eQTL,gene causal network,gene co-expression network,gene module,insulin resistance,key driver,muscle

Position paper from the Endocrine Task Force of the European Organisation for Research and Treatment of Cancer (EORTC) on the management and shared decision making in patients with low-risk micro papillary thyroid carcinoma


Author(s): Koot A, Soares P, Robenshtok E, Locati LD, de la Fouchardiere C, Luster M, Bongiovanni M, Hermens R, Ottevanger P, Geenen F, Bartѐs B, Rimmele H, Durante C, Nieveen-van Dijkum E, Stalmeier P, Dedecjus M, Netea-Maier R
Affiliated Institution / ERN: Amsterdam UMC ; São João University Hospital(CHUSJ) ;
Condition / Disease: papillary thyroid carcinoma
Publication: European Journal of Cancer v179 p98-112 Year: 2023 ORPHAcode / other: ORPHA146
DOI: 10.1016/j.ejca.2022.11.005 Keywords: Microcarcinoma,Papillary,Shared decision making,Thyroid,Treatment options

Continuous glucose monitoring and metrics for clinical trials: an international consensus statement


Author(s): Battelino T, Alexander CM, Amiel SA, Arreaza-Rubin G, Beck RW, Bergenstal RM, Buckingham BA, Carroll J, Ceriello A, Chow E, Choudhary P, Close K, Danne T, Dutta S, Gabbay R, Garg S, Heverly J, Hirsch IB, Kader T, Kenney J, Kovatchev B, Laffel L, Maahs D, Mathieu C, Mauricio D, Nimri R, Nishimura R, Scharf M, Del Prato S, Renard E, Rosenstock J, Saboo B, Ueki K, Umpierrez GE, Weinzimer SA, Phillip M
Affiliated Institution / ERN: University Medical Centre Ljubljana ;
Condition / Disease: Continuous glucose monitoring
Publication: The Lancet Diabetes & Endocrinology v11.1 p42-57 Year: 2023 ORPHAcode / other:

Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls


Author(s): Guaragna-Filho G, Guerra-Junior G, Tadokoro-Cuccaro R, Hughes IA, Barros BA, Hiort O, Balsamo A, Guran T, Holterhus PM, Hannema S, Poyrazoglu S, Darendeliler F, Bryce J, Ahmed SF, Quigley CA
Affiliated Institution / ERN: Universitätsklinikum Schleswig-Holstein ;
Condition / Disease: Partial androgen insensitivity syndrome
Publication: Sexual Development v17.1 p16-25 Year: 2023 ORPHAcode / other: ORPHA754; ORPHA90797;
DOI: 10.1159/000526997 Keywords: Androgen insensitivity syndrome,Differences of sex development,Disorders of sex development,Partial androgen insensitivity syndrome,Puberty

Challenges Waiting for an Adult with DSD


Author(s): Nowotny HF, Reisch N
Affiliated Institution / ERN: Klinikum der Universität München ;
Condition / Disease: DSD
Publication: Hormone Research in Paediatrics v96.2 p207-221 Year: 2023 ORPHAcode / other: ORPHA98085; ORPHA2982; ORPHA325546;
DOI: 10.1159/000527433 Keywords: 46,XY DSD,Adult care,Androgen insensitivity syndrome,Comorbidities,Congenital adrenal hyperplasia,Disorders/differences of sex development,Gonadal dysgenesis,Klinefelter syndrome,Long-term outcome,Transition,Turner syndrome

Testicular Architecture of Men with 46,XX Testicular Disorders of Sex Development


Author(s): Hiort M, Rohayem J, Knaf R, Laurentino S, Berglund A, Gravholt CH, Gromoll J, Wistuba J
Affiliated Institution / ERN: Aarhus University Hospital ;
Condition / Disease: 46XX Testicular Disorders of Sex Development
Publication: Sexual Development v17.1 p32-42 Year: 2023 ORPHAcode / other: ORPHA325546
DOI: 10.1159/000528955 Keywords: 46,XX TDSD,Leydig cells,Sertoli cells,Testis histology

Growth Hormone Dose Modulation and Final Height in Short Children Born Small for Gestational Age: French Real-Life Data


Author(s): Coutant R, Leheup B, Nicolino M, Salles J
Affiliated Institution / ERN: CHU d'Angers ;
Condition / Disease: Growth Hormone Dose Modulation
Publication: Hormone Research in Paediatrics v96.5 p495-508 Year: 2023 ORPHAcode / other: ORPHA90692; ORPHA631;
DOI: 10.1159/000530572 Keywords: Dose modulation,Growth hormone,Real-world data,Small for gestational age

Abstracts of the 2023 Pediatric Endocrine Society (PES) Annual Meeting’ to Hormone Research in Paediatrics


Author(s): Program Chairs, PES 2023 Annual Meeting Dr. Leena Nahata, Columbus, OH Dr. Takara Stanley, Boston, MA
Affiliated Institution / ERN: Beaumont & CHI - Dublin ;
Condition / Disease: growth hormone deficiency
Publication: Hormone Research in Paediatrics v96.Suppl. 3 p1-399 Year: 2023 ORPHAcode / other: ORPHA101957; ORPHA95488
DOI: 10.1159/000531602 Keywords:

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