Endo-ERN Publications Database
940 publication(s) found matching the search criteria
Mortality in craniopharyngiomas: Data from the last two decades
Author(s):
Ntali G, Shafi AM, Karavitaki N
Affiliated Institution / ERN:
Evangelismos General Hospital ;
Condition / Disease:
Craniopharyngioma
Publication:
Best Practice & Research Clinical Endocrinology & Metabolism v39.5 p102049
Year:
2025
ORPHAcode / other:
ORPHA54595
DOI:
10.1016/j.beem.2025.102049
Keywords:
SMR,craniopharyngioma,mortality,standardized mortality ratio,survival
Expert Consensus on the Primary Aldosteronism Severity Classification and its strategic application in indicating adrenal venous sampling
Author(s):
Murakami M, Naruse M, Kobayashi H, Parasiliti-Caprino M, Bioletto F, Brüdgam D, Stüfchen I, Reincke M, St-Jean M, Kraljevic I, Kastelan D, Nevalainen PI, Araujo-Castro M, Sukor N, Nijhoff MF, Matrozova J, Ragnarsson O, Shafigullina Z, Matikainen N, Markou A, Piaditis G, Izawa S, Katabami T, Ichijo T, Tanabe A, Tsuiki M, Kakutani M, Wada N, Masuda S, Bacca AV, Beuschlein F, Maiolino G, Falhammar H, Grytaas MA, Løvås K, Almeida MQ, Furnica RM, Puar T, Kmieć P, Masi S, Bourdeau I, Amar L, Dennedy MC, Fallo F, Deinum J, O’Toole S, Yamada T, Quinkler M, Lacroix A, Kocjan T
Affiliated Institution / ERN:
AO City of Health and Science - Turin ; Klinikum der Universität München ;
Condition / Disease:
Familial hyperaldosteronism type I
Publication:
European Journal of Endocrinology v193.1 p85-96
Year:
2025
ORPHAcode / other:
ORPHA403
DOI:
10.1093/ejendo/lvaf117
Keywords:
adrenal venous sampling,expert consensus,hypertension,primary aldosteronism,severity classification
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration
Author(s):
Groeneweg S, van Geest FS, Martín M, Dias M, Frazer J, Medina-Gomez C, Sterenborg RBTM, Wang H, Dolcetta-Capuzzo A, de Rooij LJ, Teumer A, Abaci A, van den Akker ELT, Ambegaonkar GP, Armour CM, Bacos I, Bakhtiani P, Barca D, Bauer AJ, van den Berg SAA, van den Berge A, Bertini E, van Beynum IM, Brunetti-Pierri N, Brunner D, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, Chesover A, Christian P, Coenen-van der Spek J, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dewey C, Dica A, Dimitri P, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi L, George B, Gevers EF, Greenup E, Hackenberg A, Halász Z, Heinrich B, Hurst AC, Huynh T, Isaza AR, Klosowska A, van der Knoop MM, Konrad D, Koolen DA, Krude H, Kulkarni A, Laemmle A, LaFranchi SH, Lawson-Yuen A, Lebl J, Leeuwenburgh S, Linder-Lucht M, López Martí A, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova JK, Mancilla EE, McCormick KL, McGowan A, Mericq V, Lora FM, Moran C, Muller KE, Nicol LE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Seckold R, Seven Menevse T, Simm P, Simon A, Singh Y, Spada M, Stals MAM, Stegenga MT, Stoupa A, Subramanian GM, Szeifert L, Tonduti D, Turan S, Vanderniet J, van der Walt A, Wémeau J, van Wermeskerken A, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Rivadeneira F, Meima ME, Marks DS, Nicola JP, Chen C, Medici M, Visser WE
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ; CHU d'Angers ; Clinical Psychiatric Hospital "Alexandru Obregia" ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ;
Condition / Disease:
Thyroid Hormone Signalling Disorders
Publication:
Nature Communications v16.1
Year:
2025
ORPHAcode / other:
ORPHA183631
Aortic Tissue Analysis in Turner Syndrome
Author(s):
Donadille B, Valent A, Amemiya K, Rive le Gouard N, Iserin L, Achouh P, Lecot-Connan T, Bruneval P, Siffroi J, Christin-Maitre S
Affiliated Institution / ERN:
APDP – Diabetes Portugal ;
Condition / Disease:
Chromosomal DSD
Publication:
Journal of the American College of Cardiology v80.13 p1284-1285
Year:
2022
ORPHAcode / other:
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study
Author(s):
Savarirayan R, Irving M, Harmatz P, Delgado B, Wilcox WR, Philips J, Owen N, Bacino CA, Tofts L, Charrow J, Polgreen LE, Hoover-Fong J, Arundel P, Ginebreda I, Saal HM, Basel D, Font RU, Ozono K, Bober MB, Cormier-Daire V, Le Quan Sang K, Baujat G, Alanay Y, Rutsch F, Hoernschemeyer D, Mohnike K, Mochizuki H, Tajima A, Kotani Y, Weaver DD, White KK, Army C, Larrimore K, Gregg K, Jeha G, Milligan C, Fisheleva E, Huntsman-Labed A, Day J
Affiliated Institution / ERN:
Universitätsklinikum Magdeburg ; ERN BOND ;
Condition / Disease:
Publication:
Genetics in Medicine v24.12 p2444-2452
Year:
2022
ORPHAcode / other:
DOI:
10.1016/j.gim.2022.08.015
Keywords:
Achondroplasia,Annualized growth velocity,Anthropometrics,Observational,Pediatrics
Efficacy of once-weekly tirzepatide versus once-daily insulin degludec on glycaemic control measured by continuous glucose monitoring in adults with type 2 diabetes (SURPASS-3 CGM): a substudy of the randomised, open-label, parallel-group, phase 3 SURPASS-3 trial
Author(s):
Battelino T, Bergenstal RM, Rodríguez A, Fernández Landó L, Bray R, Tong Z, Brown K
Affiliated Institution / ERN:
University Medical Centre Ljubljana ;
Condition / Disease:
Publication:
The Lancet Diabetes & Endocrinology v10.6 p407-417
Year:
2022
ORPHAcode / other:
Primary bilateral macronodular adrenal hyperplasia: definitely a genetic disease
Author(s):
Cavalcante IP, Berthon A, Fragoso MC, Reincke M, Stratakis CA, Ragazzon B, Bertherat J
Affiliated Institution / ERN:
APDP – Diabetes Portugal ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ;
Condition / Disease:
Adrenal Cushing syndrome
Publication:
Nature Reviews Endocrinology v18.11 p699-711
Year:
2022
ORPHAcode / other:
Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity
Author(s):
Ferrara UP, Tortora C, Rosano C, Assunto A, Rossi A, Pagano S, Falco M, Simeoli C, Ferrigno R, D’Amico A, Di Salvio D, Cangemi G, Pivonello R, Strisciuglio P, Melis D
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Publication:
Scientific Reports v12.1
Year:
2022
ORPHAcode / other:
Differences or Disorders of sex development in Boys: impact on fertility
Author(s):
Cavadias I, Touraine P, Ahmed SF
Affiliated Institution / ERN:
APDP – Diabetes Portugal ;
Condition / Disease:
Publication:
Annales d'Endocrinologie v83.3 p177-180
Year:
2022
ORPHAcode / other:
DOI:
10.1016/j.ando.2022.04.013
Keywords:
Androgen insensitivity,Androgens,Cryptorchidia,DSD,Disorders sexual development,Fertility,Hypospadias,PMDS,Testis
Measuring hyperphagia in patients with monogenic and syndromic obesity
Author(s):
Zorn S, von Schnurbein J, Schirmer M, Brandt S, Wabitsch M
Affiliated Institution / ERN:
Ulm University Medical Center ;
Condition / Disease:
Rare Genetic Obesity
Publication:
Appetite v178 p106161
Year:
2022
ORPHAcode / other:
Very low birth weight newborn with diabetes mellitus due to pancreas agenesis managed with insulin pump reservoir filled with undiluted insulin: 16-month follow-up
Author(s):
Zanfardino A, Piscopo A, Curto S, Schiaffini R, Rollato AS, Testa V, Miraglia del Giudice E, Barbetti F, Iafusco D
Affiliated Institution / ERN:
AOU University of Campania "Luigi Vanvitelli", Naples ;
Condition / Disease:
Publication:
Diabetes & Metabolic Syndrome: Clinical Research & Reviews v16.7 p102561
Year:
2022
ORPHAcode / other:
DOI:
10.1016/j.dsx.2022.102561
Keywords:
Diabetes in infancy,Hybrid closed loop systems,Insulin dilution,Insulin pump,Neonatal diabetes mellitus
KDM1A inactivation causes hereditary food-dependent Cushing syndrome
Author(s):
Vaczlavik A, Bouys L, Violon F, Giannone G, Jouinot A, Armignacco R, Cavalcante IP, Berthon A, Letouzé E, Vaduva P, Barat M, Bonnet F, Perlemoine K, Ribes C, Sibony M, North M, Espiard S, Emy P, Haissaguerre M, Tauveron I, Guignat L, Groussin L, Dousset B, Reincke M, Fragoso MC, Stratakis CA, Pasmant E, Libé R, Assié G, Ragazzon B, Bertherat J
Affiliated Institution / ERN:
APDP – Diabetes Portugal ;
Condition / Disease:
Adrenal Cushing syndrome
Publication:
Genetics in Medicine v24.2 p374-383
Year:
2022
ORPHAcode / other:
Assessment of efficacy and safety of volanesorsen for treatment of metabolic complications in patients with familial partial lipodystrophy: Results of the BROADEN study
Author(s):
Oral EA, Garg A, Tami J, Huang EA, O'Dea LS, Schmidt H, Tiulpakov A, Mertens A, Alexander VJ, Watts L, Hurh E, Witztum JL, Geary RS, Tsimikas S
Affiliated Institution / ERN:
UZ Leuven ;
Condition / Disease:
Genetic Lipodystrophy
Publication:
Journal of Clinical Lipidology v16.6 p833-849
Year:
2022
ORPHAcode / other:
DOI:
10.1016/j.jacl.2022.08.008
Keywords:
BROADEN,Diabetes mellitus,Familial partial lipodystrophy,Hypertriglyceridemia,Triglyceride,Volanesorsen
Ectopic craniopharyngiomas
Author(s):
Ntali G, Khan T, Karavitaki N, Tsermoulas G
Affiliated Institution / ERN:
Evangelismos General Hospital ;
Condition / Disease:
Publication:
Best Practice & Research Clinical Endocrinology & Metabolism v39.5 p102047
Year:
2025
ORPHAcode / other:
ORPHA54595
The clinical spectrum of adrenal ganglioneuromas extends from severe hypertension to an asymptomatic incidentaloma; two cases and mini review of literature
Author(s):
Kardalas E, Kyriakopoulos G, Antonopoulou V, Kyriakou A, Georgiadi S, Tzanela M, Ntali G
Affiliated Institution / ERN:
Evangelismos General Hospital ;
Condition / Disease:
Publication:
Hormones v24.4 p1199-1208
Year:
2025
ORPHAcode / other:
ORPHA1501
DOI:
10.1007/s42000-025-00676-w
Keywords:
Adrenal ganglioneuroma,Composite,Hypertension,Pheochromocytoma,Schwannian cell
Continuity of Care in Klinefelter Syndrome: Age-Adapted Modules for Standardized Clinical Data Collection (I-KS)
Author(s):
Grasemann C, Gravholt CH, Breen L, Aksglaede L, Lucas-Herald A, Alimussina M, Boettcher C, Wernsmann J, Bauer JJ, Bryce J, Carlomagno F, Hannema SE, Isidori A, Mazen I, Nordenstroem A, Ahmed SF
Affiliated Institution / ERN:
Copenhagen University Hospital, Rigshospitalet ; University Medical Center Mainz ; Katholisches Klinikum Bochum ; Aarhus University Hospital ; AOU Policlinico Umberto I - Rome ; Amsterdam UMC ; Karolinska University Hospital ;
Condition / Disease:
Maternal Androgens
Publication:
Endocrine Connections doi:10.1530/ec-25-0196
Year:
2025
ORPHAcode / other:
NO XY CODE
DOI:
10.1530/EC-25-0196
Keywords:
Klinefelter syndrome,age-adapted modules,life span,registry,transition
Long-term primary pharmacotherapy of giant prolactinomas: A comparison of different cabergoline dosages
Author(s):
Václav Jr. H, Manuela V, Michal K, Adéla K, Jana J, Mikuláš K, Pavel D, David N, Václav M, Martin M, Roman L, Václav H
Affiliated Institution / ERN:
General University Hospital in Prague ;
Condition / Disease:
Prolactinoma
Publication:
Journal of Clinical & Translational Endocrinology v41 p100418
Year:
2025
ORPHAcode / other:
ORPHA2965
Bone in Parathyroid Diseases Revisited: Evidence From Epidemiological, Surgical and New Drug Outcomes
Author(s):
Roumpou A, Palermo A, Tournis S, Hasenmajer V, Pasieka JL, Kaltsas G, Isidori A, Kassi E
Affiliated Institution / ERN:
General Hospital of Athens “LAIKO” ; AOU Policlinico Umberto I - Rome ;
Condition / Disease:
Hyperparathyroidism
Publication:
Endocrine Reviews v46.4 p576-620
Year:
2025
ORPHAcode / other:
ORPHA181408
DOI:
10.1210/endrev/bnaf010
Keywords:
bone,fracture,hyperparathyroidism,hypoparathyroidism,parathyroid disorders,pseudohypoparathyroidism
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
Author(s):
Haffner D, Emma F, Seefried L, Högler W, Javaid KM, Bockenhauer D, Bacchetta J, Eastwood D, Biosse Duplan M, Schnabel D, Wicart P, Ariceta G, Levtchenko E, Harvengt P, Kirchhoff M, Gardiner O, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenický P, Rejnmark L, Linglart A
Affiliated Institution / ERN:
Hôpital Bicêtre ; Aarhus University Hospital ; Karolinska University Hospital ; Charité Universitätsmedizin Berlin ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; Hospices Civils de Lyon ; Hospital Universitari Vall d’Hebron ;
Condition / Disease:
X-linked hypophosphataemia
Publication:
Nature Reviews Nephrology v21.5 p330-354
Year:
2025
ORPHAcode / other:
ORPHA89936
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
Author(s):
Haffner D, Emma F, Seefried L, Högler W, Javaid KM, Bockenhauer D, Bacchetta J, Eastwood D, Biosse Duplan M, Schnabel D, Wicart P, Ariceta G, Levtchenko E, Harvengt P, Kirchhoff M, Gardiner O, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenický P, Rejnmark L, Linglart A
Affiliated Institution / ERN:
Aarhus University Hospital ; Hôpital Bicêtre ;
Condition / Disease:
X-linked hypophosphataemia
Publication:
Nature Reviews Nephrology v21.5 p330-354
Year:
2025
ORPHAcode / other:
ORPHA89936
Therapeutic potential of targeting the FLNA‐regulated Wee1 kinase in adrenocortical carcinomas
Author(s):
Esposito E, Marra G, Catalano R, Maioli S, Nozza E, Barbieri AM, Hantel C, Di Dalmazi G, Sigala S, Geginat J, Cassinotti E, Baldari L, Palmieri S, Mangone A, Berruti A, Ferrante E, Mantovani G, Peverelli E
Affiliated Institution / ERN:
Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; AOU-Bologna ;
Condition / Disease:
Adrenocortical carcinoma
Publication:
International Journal of Cancer v156.6 p1256-1271
Year:
2025
ORPHAcode / other:
ORPHA1501
DOI:
10.1002/ijc.35239
Keywords:
Wee1,adavosertib,adrenocortical carcinomas,cell cycle regulation,filamin A,therapeutic target
Recovery of hypopituitarism in macroprolactinomas: a comparison of medical vs. surgical treatment. Results from a European multicenter study
Author(s):
Detomas M, Altieri B, Nasi-Kordhishti I, Ryba A, Haberbosch L, Chierigo F, Deutschbein T, Fassnacht M, Mortini P, Flitsch J, Honegger J, Losa M
Affiliated Institution / ERN:
Charité Universitätsmedizin Berlin ; San Raffaele hospital - Milan ; University Hospital Würzburg ;
Condition / Disease:
Prolactinoma
Publication:
Journal of Endocrinological Investigation v48.6 p1363-1370
Year:
2025
ORPHAcode / other:
ORPHA2965
DOI:
10.1007/s40618-025-02559-8
Keywords:
ACTH deficiency,Adrenal insufficiency,Hypogonadism,Hypothyroidism,Prolactinoma,TSH deficiency
New Horizons in Klinefelter Syndrome: Current Evidence, Gaps, and Research Priorities
Author(s):
Lucas-Herald AK, Aksglaede L, Caspersen ID, Ahmed SF, Carlomagno F, Isidori AM
Affiliated Institution / ERN:
Copenhagen University Hospital, Rigshospitalet ; AOU Policlinico Umberto I - Rome ;
Condition / Disease:
Other
Publication:
Endocrine Reviews doi:10.1210/endrev/bnaf005
Year:
2025
ORPHAcode / other:
ORPHA325546
DOI:
10.1210/endrev/bnaf005
Keywords:
Klinefelter,bone,cardiovascular,fertility,neurodevelopment,testosterone
Osilodrostat improves blood pressure and glycemic control in patients with Cushing’s disease: a pooled analysis of LINC 3 and LINC 4 studies
Author(s):
Fleseriu M, Pivonello R, Newell-Price J, Gadelha MR, Biller BMK, Auchus RJ, Feelders RA, Shimatsu A, Witek P, Bex M, Piacentini A, Pedroncelli AM, Lacroix A
Affiliated Institution / ERN:
UZ Leuven ; AOU Federico II - Naples ; Erasmus MC: University Medical Center Rotterdam ;
Condition / Disease:
Pituitary adenoma
Publication:
Pituitary v28.1
Year:
2025
ORPHAcode / other:
ORPHA99408
DOI:
10.1007/s11102-024-01471-3
Keywords:
Cortisol normalization,Cushing’s disease,Diabetes,Hypertension,Long-term treatment,Osilodrostat
IGF-I levels during standard Lanreotide dose predicts biochemical outcome of high-frequency regimen in acromegaly
Author(s):
Chiloiro S, Giampietro A, Giambò P, Costanza F, Mattogno PP, Lauretti L, Calandrelli R, Gaudino S, Gessi M, Rindi G, Olivi A, De Marinis L, Doglietto F, Bianchi A, Pontecorvi A, Giustina A
Affiliated Institution / ERN:
San Raffaele hospital - Milan ;
Condition / Disease:
Acromegaly
Publication:
Pituitary v28.1
Year:
2025
ORPHAcode / other:
ORPHA963
DOI:
10.1007/s11102-024-01479-9
Keywords:
Acromegaly,Growth hormone,High frequency,IGF-I,Lanreotide autogel,Somatostatin,Somatostatin receptor ligands
Correction to: Long-term safety and effectiveness of a somatropin biosimilar (Omnitrope®) in children requiring growth hormone therapy: analysis of final data of Italian patients enrolled in the PATRO children study
Author(s):
Iughetti L, Antoniazzi F, Giavoli C, Bellone S, Aversa T, Guazzarotti L, Street ME, Miraglia del Giudice E, Persani L, Pozzobon G, Ragusa L, Stagi S, Tornese G, Zecchino C, Mameli C, Zecchi E, Fedeli P, Zabransky M, Lucaccioni L, Zucchini S
Affiliated Institution / ERN:
Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; AOU University of Campania "Luigi Vanvitelli", Naples ; AOUI Verona ; University Hospital Florence ; San Raffaele hospital - Milan ; Meyer Children’s Hospital Florence ; IRCCS Auxologico Italian Institute - Milan ; AOU-Bologna ; University Hospital of Padova ;
Condition / Disease:
Combined pituitary hormone deficiencies, genetic forms
Publication:
Endocrine doi:10.1007/s12020-025-04162-6
Year:
2025
ORPHAcode / other:
ORPHA95494
Diagnostic Value of 11C-Methionine PET-CT Imaging in Persistent or Recurrent Cushing Disease After Surgery
Author(s):
Furnica RM, Devuyst F, Mathey C, Constantinescu SM, De Herdt C, Alexopoulou O, Lhommel R, Maiter D
Affiliated Institution / ERN:
University Hospital Liège ; University Hospitals Saint-Luc ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ;
Condition / Disease:
Cushing disease
Publication:
The Journal of Clinical Endocrinology & Metabolism doi:10.1210/clinem/dgaf047
Year:
2025
ORPHAcode / other:
ORPHA96253
DOI:
10.1210/clinem/dgaf047
Keywords:
11C-Methionine PET/CT,functional imaging,persistent/recurrent Cushing’s disease,therapeutic intervention
Challenges in Adolescent and Adult Males With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Author(s):
Claahsen-van der Grinten HL, Adriaansen BPH, Falhammar H
Affiliated Institution / ERN:
Karolinska University Hospital ; Amsterdam UMC ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
The Journal of Clinical Endocrinology & Metabolism v110.Supplement_1 pS25-S36
Year:
2025
ORPHAcode / other:
ORPHA418
DOI:
10.1210/clinem/dgae718
Keywords:
bone health,cardiometabolic health,congenital adrenal hyperplasia,hypergonadotropic hypogonadism,testicular adrenal rest tumors,transition of care
Cardiometabolic Aspects of Congenital Adrenal Hyperplasia
Author(s):
Krysiak R, Claahsen-van der Grinten HL, Reisch N, Touraine P, Falhammar H
Affiliated Institution / ERN:
Radboud University Medical Centre Nijmegen ; Karolinska University Hospital ; Klinikum der Universität München ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
Endocrine Reviews v46.1 p80-148
Year:
2025
ORPHAcode / other:
ORPHA418
DOI:
10.1210/endrev/bnae026
Keywords:
21-hydroxylase deficiency,androgens,atherosclerosis,blood pressure,cardiovascular disease,glucocorticoids,insulin resistance,risk factors
Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency
Author(s):
Boogers LS, Brüggenwirth HT, Wolffenbuttel KP, Hersmus R, Bryce J, Ahmed SF, Lucas-Herald AK, Baronio F, Cools M, Ellaithi M, Globa E, Güran T, Hiort O, Holterhus P, MсElreavey K, Niedziela M, Stancampiano MR, Tosun BG, van Bever Y, Oosterhuis JW, Looijenga LHJ, Hannema SE
Affiliated Institution / ERN:
Ghent University Hospital ; Amsterdam UMC ; Karol Jonscher Clinical Hospital of Poznań University of Medical Sciences ;
Condition / Disease:
Other
Publication:
European Journal of Endocrinology v192.1 p34-45
Year:
2025
ORPHAcode / other:
ORPHA98085
DOI:
10.1093/ejendo/lvae154
Keywords:
17beta-HSD deficiency,5alpha-reductase deficiency,disorder of sex development,germ cell cancer,hypogonadism,puberty,testis