Author(s): Kaparounaki C, Ilie M, De Alcubierre D, Anagnostis P, Haidich A, Isidori AM, Dekkers OM, Goulis DG, Raverot G

Affiliated Institution / ERN: Leiden University Medical Center ; Hospices Civils de Lyon ;

Condition / Disease: Acromegaly

Publication: European Journal of Endocrinology v193.5 pS83-S94 Year: 2025 ORPHAcode / other: ORPHA963

DOI: 10.1093/ejendo/lvaf221 Keywords: acromegaly,acromegaly treatments,effectiveness,network meta-analysis,pituitary adenoma

Author(s): Debs R, Diene G, Cortadellas J, Molinas C, Kermorgant M, Tauber M, Pavy Le Traon A

Affiliated Institution / ERN: CHU de Toulouse ; Erasmus MC: University Medical Center Rotterdam ; Universitätsklinikum Tübingen ; Universitätsklinikum Düsseldorf ; Karolinska University Hospital ;

Condition / Disease: Prader-Willi syndrome

Publication: Clinical Autonomic Research v35.2 p243-255 Year: 2025 ORPHAcode / other: ORPHA739

DOI: 10.1007/s10286-024-01083-8 Keywords: Autonomic nervous system,Cardiovascular regulation,Heart rate variability,Polysomnography,Prader–Willi syndrome

Author(s): Claahsen-van der Grinten HL, Davidse K, Dreijerink KMA, Eck JPv, Reisch N, Lajic S, Foltête E, Stikkelbroeck N, Vlaardingerbroek H

Affiliated Institution / ERN: Erasmus MC: University Medical Center Rotterdam ; Charité Universitätsmedizin Berlin ;

Condition / Disease: Primary adrenal insufficiency

Publication: Endocrine Connections v14.10 Year: 2025 ORPHAcode / other: ORPHA101958

DOI: 10.1530/EC-25-0324 Keywords:

Author(s): Narinx N, Nyamaah JA, David K, Sommers V, Walravens J, Fiers T, Lapauw B, Decallonne B, Claessens F, Van Uytfanghe K, Billen J, Vermeersch P, Vanderschueren D, Antonio L

Affiliated Institution / ERN: UZ Leuven ; Ghent University Hospital ;

Condition / Disease: Congenital hypogonadotropic hypogonadism

Publication: Clinical Chemistry and Laboratory Medicine (CCLM) v63.8 p1561-1572 Year: 2025 ORPHAcode / other: ORPHA174590

DOI: 10.1515/cclm-2024-1237 Keywords: free testosterone,male hypogonadism,sex hormone-binding globulin,survey,total testosterone

Author(s): Zitzmann M, Rastrelli G, Murray RD, Edwards D, Reisman Y, Rao PM, Sahi A, Jones TH, Ferlin A, Armeni E, Corpas E, Cremers J, David J, Arver S, Antonio L, Corona G

Affiliated Institution / ERN: UZ Leuven ; University Hospital Florence ;

Condition / Disease: Congenital hypogonadotropic hypogonadism

Publication: Andrology v14.1 p294-302 Year: 2026 ORPHAcode / other: ORPHA174590

DOI: 10.1111/andr.70062 Keywords: cardiosvascular risk,classical hypogonadism,functional hypogonadism,testosterone,testosterone therapy

Author(s): Boeri L, Masterson T, Antonio L, Corona G, Khera M, Salonia A, Mulhall JP

Affiliated Institution / ERN: UZ Leuven ; San Raffaele hospital - Milan ;

Condition / Disease: Congenital hypogonadotropic hypogonadism

Publication: European Urology doi:10.1016/j.eururo.2025.12.015 Year: 2025 ORPHAcode / other: ORPHA174590

DOI: 10.1016/j.eururo.2025.12.015 Keywords:

Author(s): Mondin A, Barbot M, Ceccato F, Pereira AM, Angelousi A, Elenkova A, Zilaitiene B, Schalin-Jäntti C, De Herdt C, Kanaka-Gantenbein C, Maiter D, Gatto F, Johannsson G, Stochholm K, Bugalho MJ, Detomas M, Reincke M, Toumba M, Giordano R, Tsagarakis S, Webb SM, Biermasz NR, Scaroni C

Affiliated Institution / ERN: AO City of Health and Science - Turin ; University Hospital of Padova ; Amsterdam UMC ; Leiden University Medical Center ;

Condition / Disease: Cushing disease

Publication: Journal of Endocrinological Investigation v48.11 p2657-2670 Year: 2025 ORPHAcode / other: ORPHA96253

DOI: 10.1007/s40618-025-02663-9 Keywords: ACTH,Arterial hypertension,Cardiovascular risk,Cortisol,Cushing’s syndrome,Diabetes,Obesity,Vascular disease

Author(s): Lawrence NR, Bacila I, Tonge J, Dawson J, Collins GS, Lang Z, Bryce J, Alimussina M, Chen M, Ali SR, Adam S, van den Akker ELT, Bachega TASS, Baronio F, Birkebæk NH, Bonfig W, Claahsen - van der Grinten H, Cools M, Costa EC, Debono M, de Vries L, Flück CE, Gazdagh G, Güven A, Hannema SE, Iotova V, van der Kamp HJ, Krone R, Leka-Emiri S, Clemente-León M, Lichiardopol CR, Markosyan RL, Milenkovic T, de Miranda MC, Neumann U, Newell-Price J, Poyrazoğlu Å, Probst-Scheidegger U, Russo G, De Sanctis L, Seneviratne SN, Stancampiano MR, Tadokoro-Cuccaro R, Thankamony A, Vieites A, Wasniewska M, Yeste D, Tomlinson J, Ahmed SF, Krone N

Affiliated Institution / ERN: Charité Universitätsmedizin Berlin ; Radboud University Medical Centre Nijmegen ;

Condition / Disease: congenital adrenal hyperplasia

Publication: European Journal of Endocrinology v192.5 p529-539 Year: 2025 ORPHAcode / other: ORPHA418

DOI: 10.1093/ejendo/lvaf060 Keywords: Bayesian analysis,blood pressure,congenital adrenal hyperplasia,glucocorticoids,statistical modeling

Author(s): Sepich M, Bertelloni S, Tyutyusheva N, Lucas-Herald A, Mazen I, Cools M, Van Paemel R, Poyrazoğlu Å, Hiort O, Döhnert U, Neumann U, Phan-Hug F, Atapattu N, Seneviratne S, Markosyan R, Rey R, Suco S, Baronio F, Lichiardopol C, Verkauskas G, Stancampiano M, Russo G, Konrad D, Lenherr-Taube N, Hannema S, Gazdagh G, Peroni D, Ahmed SF

Affiliated Institution / ERN: Charité Universitätsmedizin Berlin ; Amsterdam UMC ;

Condition / Disease: 21-hydroxylase def (CYP21A)

Publication: The Journal of Clinical Endocrinology & Metabolism doi:10.1210/clinem/dgaf603 Year: 2025 ORPHAcode / other: ORPHA90794

DOI: 10.1210/clinem/dgaf603 Keywords:

Author(s): McDonnell C, Hove HB, Irving M, White KK, Fontecha CG, Legare JM, Högler W, Hoernschemeyer DG, Schnabel D, Unger S, Bacino CA, Hofman P, Yu Y, Ma H, Gong C, Luo X, Burrow TA, Baujat G, Mora S, Fiscaletti M, Zhao C, Makara MA, Shu AD, Savarirayan R

Affiliated Institution / ERN: Charité Universitätsmedizin Berlin ; Copenhagen University Hospital, Rigshospitalet ; Sant Joan de Déu Hospital ;

Condition / Disease: Achondroplasia

Publication: Hormone Research in Paediatrics p1-19 Year: 2026 ORPHAcode / other: ORPHA15

DOI: 10.1159/000550169 Keywords:

Author(s): Neumann U, Blankenstein O, Claahsen-van der Grinten HL

Affiliated Institution / ERN: Charité Universitätsmedizin Berlin ; Radboud University Medical Centre Nijmegen ;

Condition / Disease: 21-hydroxylase def (CYP21A)

Publication: Endocrine Connections v14.5 Year: 2025 ORPHAcode / other: ORPHA90794

DOI: 10.1530/EC-24-0619 Keywords: CAH,glucocorticoid treatment in childhood,hydrocortisone modified-release capsules

Author(s): Zucchi D, Marinello D, Tani C, Fulvio G, Aguilera S, Benachi A, Biller R, Blanco I, Borgards P, Boiteux M, Brandi ML, Costafreda E, Fonseca JE, Fredi M, Iotova V, Louisse S, Nalli C, Onali M, Power B, Rousset-Jablonski C, Sturz D, Tincani A, Vieira A, Capela S, Dan D, De Backer J, de Die-Smulders C, Dufke A, Artzner EL, Limongelli G, Lorenz B, Papenthin W, Pascau MJ, Raidt J, Ray-Coquard I, Rimmer R, Röhl C, Schneider H, Yap T, Talarico R, Mosca M

Affiliated Institution / ERN: UMHAT “Sveta Marina” (Varna) ; AOU Pisan ; ERN BOND ;

Condition / Disease: Partial gonadal dysgenesis

Publication: Orphanet Journal of Rare Diseases v20.1 Year: 2025 ORPHAcode / other: NO XX CODE

DOI: 10.1186/s13023-024-03435-z Keywords: Pregnancy-related issues,Rare diseases,Unmet needs

Author(s): Jacobs A, Cifelli P, Delbeck D, Elbarbary N, Gevers E, Sumnik Z, Amaratunga SA, Pundziute Lyckå A, Casteels K

Affiliated Institution / ERN: UZ Leuven ; Motol and Homolka University Hospital ;

Condition / Disease: Diabetes mellitus

Publication: Hormone Research in Paediatrics p1-5 Year: 2024 ORPHAcode / other: ORPHA101952

DOI: 10.1159/000536019 Keywords: Autoantibodies,Diabetes,H syndrome,PHID syndrome,SLC29A3

Author(s): Fulvio G, Marinello D, Zucchi D, Aguilera S, Benachi A, Biller R, Blanco I, Boiteux M, Borgards P, Brandi ML, Costafreda E, Fonseca JE, Fredi M, Guimarães V, Iotova V, Lecointe-Artzner E, Lopes AR, Louisse S, Nalli C, Olesinska M, Onali M, Papenthin W, Power B, Röhl C, Rousset-Jablonski C, Sturz D, Tincani A, van Vleuten CJd, Vieira A, Dan D, Backer JD, Smulders CdD, Dufke A, Frank C, Limongelli G, Lorenz B, Kilpiäinen E, Pascau MJ, Raidt J, Ray-Coquard I, Rimmer R, Schneider H, Van Pal HJd, Yap T, Talarico R, Tani C, Mosca M

Affiliated Institution / ERN: UMHAT “Sveta Marina” (Varna) ; ERN BOND ; ERN BOND ;

Condition / Disease: Partial gonadal dysgenesis

Publication: Reproductive Health v22.1 Year: 2025 ORPHAcode / other: NO XX CODE

DOI: 10.1186/s12978-025-02136-5 Keywords: Patient-centered care european reference networks (ERN),Pregnancy,Psychological support,Rare diseases,Reproductive health,Unmet needs

Author(s): Reschke F, Ernst G, Kordonouri O, Lyons SK, Piccini B, Isidori AM, Döhnert U, Toenne R, Dassie F, Charmandari E, Iotova V, Weiskorn J, Corradin V, LeFloch N, Rosenbichler B, Maffei P, _ _

Affiliated Institution / ERN: UMHAT “Sveta Marina” (Varna) ; Meyer Children’s Hospital Florence ; University Hospital of Padova ; Universitätsklinikum Schleswig-Holstein ; AOU Policlinico Umberto I - Rome ; Evangelismos General Hospital ;

Condition / Disease: MODY

Publication: Endocrine Connections v14.11 Year: 2025 ORPHAcode / other: ORPHA552

DOI: 10.1530/EC-25-0451 Keywords: adolescents and young adults,monogenic diabetes,multidisciplinary care,patient-centered care,rare diabetes,transition of care

Author(s): Jimenez C, Andreassen M, Durand A, Moog S, Hendifar A, Welin S, Spada F, Sharma R, Wolin E, Ruether J, Garcia-Carbonero R, Fassnacht M, Capdevila J, Del Rivero J, Iliopoulos O, Huillard O, Jang R, Mai K, Artamonova E, Hallqvist A, Else T, Odeleye-Ajakaye A, Gozman A, Naik GS, Berruti A

Affiliated Institution / ERN: Aarhus University Hospital ; Sahlgrenska University Hospital ;

Condition / Disease: Hereditary pheochromocytoma-paraganglioma

Publication: New England Journal of Medicine v393.20 p2012-2022 Year: 2025 ORPHAcode / other: ORPHA29072

DOI: 10.1056/NEJMoa2504964 Keywords:

Author(s): Shishkov S, Iotova V, Pelsma I, Priego Zurita AL, Biermasz N, _ _, Ahmed F

Affiliated Institution / ERN: UMHAT “Sveta Marina” (Varna) ; Leiden University Medical Center ; UMHAT “Sveta Marina” (Varna) ;

Condition / Disease: Panhypopituitarism

Publication: Endocrine Connections v14.12 Year: 2025 ORPHAcode / other: ORPHA90695

DOI: 10.1530/EC-25-0586 Keywords: core registry,disease registry,pituitary diseases,transition

Author(s): Clarke BL, Khan AA, Rubin MR, Schwarz P, Vokes T, Shoback DM, Gagnon C, Palermo A, Abbott LG, Hofbauer LC, Kohlmeier L, Cetani F, Pihl S, An X, Smith AR, Lai B, Ukena J, Sibley CT, Shu AD, Rejnmark L

Affiliated Institution / ERN: Copenhagen University Hospital, Rigshospitalet ; Aarhus University Hospital ; AOU Pisan ;

Condition / Disease: Hypoparathyroidism

Publication: The Journal of Clinical Endocrinology & Metabolism v110.4 p951-960 Year: 2025 ORPHAcode / other: ORPHA181405

DOI: 10.1210/clinem/dgae693 Keywords: hormone replacement therapy,hypocalcemia,hypoparathyroidism,palopegteriparatide,parathyroid hormone,quality of life

Author(s): Castano JP, Dattani MT, Grozinsky-Glasberg S, Karavitaki N, Pavel ME, Andoniadou C, Alexandraki K, Capatina C, Cerbone M, Ferone D, Gan H, Hofland J, Hofland L, Ibanez-Costa A, Ilie M, Isidori AM, Korbonits M, Kos-Kudła B, Maghnie M, Mantovani G, Marazuela M, Raverot G, Scarpa A, Schilbach K, Theodoropoulou M, van Santen HM, Zatelli MC

Affiliated Institution / ERN: Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; Medical University of Silesia in Katowice ; Erasmus MC: University Medical Center Rotterdam ; IRCCS Istituto Giannina Gaslini, Genova ; Hospices Civils de Lyon ; AOU - Ferrara ;

Condition / Disease: Pituitary adenoma

Publication: Hormone Research in Paediatrics p1-16 Year: 2025 ORPHAcode / other: ORPHA99408

DOI: 10.1159/000549145 Keywords: EndoCompass,Funding,Roadmap,Thyroid

Author(s): Demirbilek H, Melikyan M, Iotova V, Galcheva S, Ozbek MN, Dastamani A, Kheladze N, Mazor-Aronovitch K, Clemente M, Empting S, Mohnike K, Christesen HT, Thornton PS, De Leon DD, Hood D, O’Boyle E, Roberts BK

Affiliated Institution / ERN: Hospital Universitari Vall d’Hebron ; Hospital Universitari Vall d’Hebron ;

Condition / Disease: Congenital Adrenal Hyperplasia

Publication: Med v6.6 p100611 Year: 2025 ORPHAcode / other: ORPHA418

DOI: 10.1016/j.medj.2025.100611. Keywords: Translation to patients,congenital HI,hyperinsulinism,hypoglycemia,hypoketonemia,insulin receptor,monoclonal antibody,neonatal hypoglycemia,neurologic damage,pediatric endocrinology

Author(s): Bioletto F, Benanteur N, Birtolo MF, Gravrand V, Martin Y, Lombard M, Perlemoine K, Bonnet-Serrano F, Jouinot A, Hage M, Raffin-Sanson M, Letourneur F, Emile J, Bertherat J, Villa C, Baussart B, Assié G

Affiliated Institution / ERN: AO City of Health and Science - Turin ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ;

Condition / Disease: Pituitary adenoma

Publication: European Journal of Endocrinology v193.4 p474-486 Year: 2025 ORPHAcode / other: ORPHA99408

DOI: 10.1093/ejendo/lvaf196 Keywords: dopamine agonists,prolactinoma,somatostatin analogs,somatotropinoma,transcriptome

Author(s): Nieman LK, Boscaro M, Scaroni C, Deutschbein T, Mezôsi E, Driessens N, Georgescu CE, Motyka M, Hubalewska-Dydejczyk A, Jarzab B, Maiter D, Reincke M, Loli P, Zampetti B, Atmaca A, Badiu C, Beckers A, Bolanowski M, Cavagnini F, Unger N, Giordano R, Hanzu FA, Terzolo M, Nader MB, Sinaii N, Tőke J, Tóth M

Affiliated Institution / ERN: Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; Klinikum der Universität München ;

Condition / Disease: Cushing disease

Publication: European Journal of Endocrinology v193.3 p391-402 Year: 2025 ORPHAcode / other: ORPHA96253

DOI: 10.1093/ejendo/lvaf181 Keywords: Cushing's syndrome,late-night salivary cortisol,metyrapone,urinary free cortisol

Author(s): Bojoga A, van Houten P, Jaeger M, Rabold K, Walgreen B, van Emst L, Ioachim D, van Engen-van Grunsven I, Badiu C, Netea-Maier RT

Affiliated Institution / ERN: Radboud University Medical Centre Nijmegen ; Institute of Oncology “Prof dr. Ion Chiricuta” CLUJ NAPOCA ;

Condition / Disease: Follicular thyroid carcinoma

Publication: International Journal of Molecular Sciences v26.23 p11335 Year: 2025 ORPHAcode / other: ORPHA146

DOI: 10.3390/ijms262311335 Keywords: anaplastic thyroid cancer,non-medullary thyroid cancer,pentraxin 3,tumor-associated inflammation

Author(s): Ceruti D, Ottevanger PB, De Leo S, Bonenkamp HJ, Colombo C, Gotthardt M, Fugazzola L, Netea-Maier RT

Affiliated Institution / ERN: Radboud University Medical Centre Nijmegen ; IRCCS Auxologico Italian Institute - Milan ;

Condition / Disease: Follicular thyroid carcinoma

Publication: European Thyroid Journal v14.4 Year: 2025 ORPHAcode / other: ORPHA146

DOI: 10.1530/ETJ-25-0161 Keywords: outcome,overdiagnosis,radioiodine,thyroglobulin,thyroid cancer

Author(s): van de Berg DJ, Vriens MR, van Santen HM, Seur A, Clement SC, van Trotsenburg AP, Bruinstroop E, Kruijff S, Peeters RP, Verburg FA, Netea-Maier R, Jamaludin FS, Nieveen van Dijkum EJ, Derikx JP, Engelsman AF

Affiliated Institution / ERN: Radboud University Medical Centre Nijmegen ; Amsterdam UMC ; University Medical Center Utrecht ; Erasmus MC: University Medical Center Rotterdam ; University Medical Center Groningen ; Karolinska University Hospital ;

Condition / Disease: Follicular thyroid carcinoma

Publication: Thyroid® v35.12 p1412-1421 Year: 2025 ORPHAcode / other: ORPHA146

DOI: 10.1177/10507256251390871 Keywords: core outcome set,differentiated thyroid cancer,surgery

Author(s): Castano JP, Dattani MT, Grozinsky-Glasberg S, Karavitaki N, Pavel ME, Andoniadou C, Alexandraki K, Capatina C, Cerbone M, Ferone D, Gan H, Hofland J, Hofland L, Ibanez-Costa A, Ilie M, Isidori AM, Korbonits M, Kos-Kudła B, Maghnie M, Mantovani G, Marazuela M, Raverot G, Scarpa A, Schilbach K, Theodoropoulou M, van Santen HM, Zatelli MC

Affiliated Institution / ERN: Medical University of Silesia in Katowice ; Hospices Civils de Lyon ; AOU - Ferrara ; Erasmus MC: University Medical Center Rotterdam ; AOUI Verona ; Klinikum der Universität München ; University Medical Center Utrecht ; Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; AOU Policlinico Umberto I - Rome ;

Condition / Disease: Acquired pituitary hormone deficiency

Publication: Hormone Research in Paediatrics p1-16 Year: 2025 ORPHAcode / other: ORPHA95502

DOI: 10.1159/000549145. Keywords: EndoCompass,Funding,Roadmap,Thyroid

Author(s): Jager EC, Metman MJ, Timmenga IA, Zandee WT, Jansen L, van Hemel BM, Lodewijk L, Vriens MR, van den Broek MF, Engelsman AF, Dreijerink KM, Netea-Maier RT, van Ginhoven TM, Peeters RP, de Heus E, Links TP, Kruijff S

Affiliated Institution / ERN: Amsterdam UMC ; Erasmus MC: University Medical Center Rotterdam ; Karolinska University Hospital ; Radboud University Medical Centre Nijmegen ; University Medical Center Groningen ; University Medical Center Utrecht ;

Condition / Disease: Follicular thyroid carcinoma

Publication: Thyroid® v35.1 p87-96 Year: 2025 ORPHAcode / other: ORPHA146

DOI: 10.1089/thy.2024.0433 Keywords: centralization,guidelines,incidence,medullary thyroid cancer,surgical treatment,trends

Author(s): Messina E, Inglesi A, Puglisi S, Barač Nekić A, Morelli V, Alessi Y, Zibar Tomsic K, Palmieri S, Tomaiuolo P, Grosso E, Ferraù F, Chiodini I, Kastelan D, Pia A, Scatolini M, Reimondo G, Terzolo M

Affiliated Institution / ERN: IRCCS Auxologico Italian Institute - Milan ; Sestre milosrdnice University Hospital Center ;

Condition / Disease: Cushing syndrome due to cortisol-producing adrenocortical adenoma

Publication: Frontiers in Endocrinology v16 Year: 2025 ORPHAcode / other: ORPHA647758

DOI: 10.3389/fendo.2025.1685220 Keywords: adrenal adenoma,cortisol,genetics,genotype-phenotype correlation,mutation,primary bilateral macronodular adrenal hyperplasia,variant

Author(s): Gevers EF, Hokken-Koelega AC, Tauber M, Binder G, Bochukova EG, Bouret SG, Caixàs A, Davies JH, Dauber A, Edouard T, Eggermann T, Giabicani E, Netchine I, Nilsson O, Saravinovska K, van der Steen M, Tartaglia M, Tatton-Brown K, Temple IK, Yart A, Zenker M

Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; CHU de Toulouse ; Erasmus MC: University Medical Center Rotterdam ; Universitätsklinikum Tübingen ; University Hospital Aachen ; Karolinska University Hospital ; Radboud University Medical Centre Nijmegen ; Universitätsklinikum Magdeburg ;

Condition / Disease: Noonan Syndrome

Publication: European Journal of Endocrinology v193.Supplement_2 pii72-ii83 Year: 2025 ORPHAcode / other: ORPHA648

DOI: 10.1093/ejendo/lvaf070 Keywords: Noonan syndrome,Prader-Willi syndrome,Silver-Russell syndrome,growth hormone,imprinting disorders,short stature,tall stature

Author(s): Cools M, Krausz C, Juul A, Macut D, Andersen MS, Andersson A, Andoniadou CL, Ahmed SF, Bakker J, Bashamboo A, Behre HM, Bonomi M, Busch AS, De Roo C, Dessens A, Fakhar-I-Adil M, Fanelli F, Fisher AD, Flück C, Gambineri A, Giwercman A, Gravholt CH, Hannema S, Heindryckx B, Hiort O, Hornig NC, Howard S, Ibáñez L, Jensen MB, Jørgensen N, Livadas S, Lucas-Herald A, Mastorakos G, Meriggiola MC, Ong K, Palibrk MO, Pignatelli D, Pitteloud N, Rajpert-De Meyts E, Rey R, Robeva R, Pozza C, Schlatt S, Spaggiari G, Tack L, Tena-Sempere M, Tournaye H, T’Sjoen G, Van Mello N, Vena W, Yildiz BO, de Zegher F

Affiliated Institution / ERN: Odense University Hospital ; Aarhus University Hospital ; Ghent University Hospital ; University Hospital Florence ; University Hospital Liège ; IRCCS Auxologico Italian Institute - Milan ; Erasmus MC: University Medical Center Rotterdam ; AOU-Bologna ; Amsterdam UMC ; USHATE “ACAD IVAN Penchev” ; Sant Joan de Déu Hospital ; AOU - Modena ;

Condition / Disease: Sex chromosome difference of sex development

Publication: Hormone Research in Paediatrics p1-23 Year: 2025 ORPHAcode / other: ORPHA325546

DOI: 10.1159/000549203 Keywords: EndoCompass,Funding,Hypothalamic-pituitary-gonadal·axis,Reproduction,Roadmap