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Items: 1 to 50 of 208

1.

Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis.

Andrade JGR, Fabbri-Scallet H, Dos Santos AP, Cools M, Werner R, Hiort O, de Mello MP, Guerra-Júnior G, Maciel-Guerra AT.

Sex Dev. 2019 Dec 10. doi: 10.1159/000504239. [Epub ahead of print]

PMID:
31816618
2.

The External Genitalia Score (EGS): A European multicenter validation study.

van der Straaten S, Springer A, Zecic A, Hebenstreit D, Tonnhofer U, Gawlik A, Baumert M, Szeliga K, Debulpaep S, Desloovere A, Tack L, Smets K, Wasniewska M, Corica D, Calafiore M, Ljubicic ML, Busch AS, Juul A, Nordenström A, Sigurdsson J, Flück CE, Haamberg T, Graf S, Hannema SE, Wolffenbuttel KP, Hiort O, Ahmed SF, Cools M.

J Clin Endocrinol Metab. 2019 Oct 29. pii: dgz142. doi: 10.1210/clinem/dgz142. [Epub ahead of print]

PMID:
31665438
3.

Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet.

Flück C, Nordenström A, Ahmed SF, Ali SR, Berra M, Hall J, Köhler B, Pasterski V, Robeva R, Schweizer K, Springer A, Westerveld P, Hiort O, Cools M.

Eur J Endocrinol. 2019 Nov;181(5):545-564. doi: 10.1530/EJE-19-0363.

PMID:
31539875
4.

Addressing gaps in care of people with conditions affecting sex development and maturation.

Hiort O, Cools M, Springer A, McElreavey K, Greenfield A, Wudy SA, Kulle A, Ahmed SF, Dessens A, Balsamo A, Maghnie M, Bonomi M, Dattani M, Persani L, Audi L; COST Actions DSDnet and GnRH Network as well as the European Reference Network for Rare Endocrine Conditions (Endo–ERN).

Nat Rev Endocrinol. 2019 Oct;15(10):615-622. doi: 10.1038/s41574-019-0238-y. Epub 2019 Aug 12. Review.

PMID:
31406344
5.

Monthly Video-Consultation for Children With Type 1 Diabetes Using a Continuous Glucose Monitoring System: Design of ViDiKi, a Multimethod Intervention Study to Evaluate the Benefit of Telemedicine.

Frielitz FS, Müller-Godeffroy E, Hübner J, Eisemann N, Dördelmann J, Menrath I, Katalinic A, Hiort O, von Sengbusch S.

J Diabetes Sci Technol. 2019 Jul 17:1932296819861991. doi: 10.1177/1932296819861991. [Epub ahead of print]

PMID:
31315446
6.

Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A.

Munteanu M, Kiewert C, Matar N, Hauffa BP, Unger N, Hiort O, Thiele S, Buiting K, Bramswig NC, Grasemann C.

J Endocr Soc. 2019 May 20;3(7):1383-1389. doi: 10.1210/js.2019-00073. eCollection 2019 Jul 1.

7.

Response to Letter to the Editor: "Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis".

Ljubicic ML, Jørgensen A, Ribeiro de Andrade JG, Balsamo A, Bertelloni S, Cools M, Cuccaro RT, Darendeliler F, Flück CE, Grinspon RP, Maciel-Guerra A, Guran T, Hannema SE, Lucas-Herald AK, Hiort O, Holterhus PM, Lichiardopol C, Looijenga LHJ, Ortolano R, Riedl S, Ahmed SF, Juul A.

J Clin Endocrinol Metab. 2019 Dec 1;104(12):5812-5813. doi: 10.1210/jc.2019-01413. No abstract available.

PMID:
31276168
8.

Reduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X/46,XY Mosaicism.

Hornig NC, Demiri J, Rodens P, Murga Penas EM, Caliebe A, Eckstein AK, Schweikert HU, Audi L, Hiort O, Werner R, Kulle AE, Ammerpohl O, Holterhus PM.

J Clin Endocrinol Metab. 2019 Oct 1;104(10):4630-4638. doi: 10.1210/jc.2019-00108.

PMID:
31180485
9.

Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis.

Ljubicic ML, Jørgensen A, Acerini C, Andrade J, Balsamo A, Bertelloni S, Cools M, Cuccaro RT, Darendeliler F, Flück CE, Grinspon RP, Maciel-Guerra A, Guran T, Hannema SE, Lucas-Herald AK, Hiort O, Holterhus PM, Lichiardopol C, Looijenga LHJ, Ortolano R, Riedl S, Ahmed SF, Juul A.

J Clin Endocrinol Metab. 2019 Oct 1;104(10):4366-4381. doi: 10.1210/jc.2018-02752.

PMID:
31127831
10.

[The creation of a data protection policy: a guide to telemedicine healthcare projects].

Frielitz FS, Storm N, Hiort O, Katalinic A, von Sengbusch S.

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2019 Apr;62(4):479-485. doi: 10.1007/s00103-019-02918-w. German.

PMID:
30874830
11.

Evaluation of DSD training schools organized by cost action BM1303 "DSDnet".

Bertalan R, Lucas-Herald A, Kolesinska Z, Berra M, Cools M, Balsamo A, Hiort O.

Orphanet J Rare Dis. 2018 Dec 18;13(1):227. doi: 10.1186/s13023-018-0967-3.

12.

The current landscape of European registries for rare endocrine conditions.

Ali SR, Bryce J, Cools M, Korbonits M, Beun JG, Taruscio D, Danne T, Dattani M, Dekkers OM, Linglart A, Netchine I, Nordenstrom A, Patocs A, Persani L, Reisch N, Smyth A, Sumnik Z, Visser WE, Hiort O, Pereira AM, Ahmed SF.

Eur J Endocrinol. 2019 Jan 1;180(1):89-98. doi: 10.1530/EJE-18-0861.

13.

GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

Audi L, Ahmed SF, Krone N, Cools M, McElreavey K, Holterhus PM, Greenfield A, Bashamboo A, Hiort O, Wudy SA, McGowan R; The EU COST Action.

Eur J Endocrinol. 2018 Oct 1;179(4):R197-R206. doi: 10.1530/EJE-18-0256. Review.

14.

In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.

Tajouri A, Kharrat M, Hizem S, Zaghdoudi H, M'rad R, Simic-Schleicher G, Kaiser FJ, Hiort O, Werner R.

Hum Mutat. 2018 Dec;39(12):2097-2109. doi: 10.1002/humu.23664. Epub 2018 Oct 22.

PMID:
30298535
15.

Epigenetic Repression of Androgen Receptor Transcription in Mutation-Negative Androgen Insensitivity Syndrome (AIS Type II).

Hornig NC, Rodens P, Dörr H, Hubner NC, Kulle AE, Schweikert HU, Welzel M, Bens S, Hiort O, Werner R, Gonzalves S, Eckstein AK, Cools M, Verrijn-Stuart A, Stunnenberg HG, Siebert R, Ammerpohl O, Holterhus PM.

J Clin Endocrinol Metab. 2018 Dec 1;103(12):4617-4627. doi: 10.1210/jc.2018-00052.

PMID:
30124873
16.

Oestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomised, double-dummy, double-blind crossover trial.

Birnbaum W, Marshall L, Werner R, Kulle A, Holterhus PM, Rall K, Köhler B, Richter-Unruh A, Hartmann MF, Wudy SA, Auer MK, Lux A, Kropf S, Hiort O.

Lancet Diabetes Endocrinol. 2018 Oct;6(10):771-780. doi: 10.1016/S2213-8587(18)30197-9. Epub 2018 Jul 31.

PMID:
30075954
17.

GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 "DSDnet".

Audí L, Ahmed SF, Krone N, Cools M, McElreavey K, Holterhus PM, Greenfield A, Bashamboo A, Hiort O, Wudy SA, McGowan R.

Eur J Endocrinol. 2018 Jul 4. pii: EJE-18-0256. doi: 10.1530/EJE-18-0256. [Epub ahead of print]

18.

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.

Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A.

Nat Rev Endocrinol. 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. Review.

19.

Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop.

Sanders C, Hall J, Sanders C, Dessens A, Bryce J, Callens N, Cools M, Kourime M, Kyriakou A, Springer A, Audi L, Balsamo A, Iotova V, Mladenov V, Krawczynski M, Nordenskjöld A, Rozas M, Claahsen-van der Grinten H, Hiort O, Riedl S, Ahmed SF.

Sex Dev. 2018 Jun 23. doi: 10.1159/000490081. [Epub ahead of print]

PMID:
29936513
20.

Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia.

Saito H, Noda H, Gatault P, Bockenhauer D, Loke KY, Hiort O, Silve C, Sharwood E, Martin RM, Dillon MJ, Gillis D, Harris M, Rao SD, Pauli RM, Gardella TJ, Jüppner H.

J Clin Endocrinol Metab. 2018 Jul 1;103(7):2660-2669. doi: 10.1210/jc.2018-00332.

21.

Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development.

Dessens A, Guaragna-Filho G, Kyriakou A, Bryce J, Sanders C, Nordenskjöld A, Rozas M, Iotova V, Ediati A, Juul A, Krawczynski M, Hiort O, Faisal Ahmed S.

BMJ Paediatr Open. 2017 Aug 31;1(1):e000132. doi: 10.1136/bmjpo-2017-000132. eCollection 2017. Erratum in: BMJ Paediatr Open. 2018 Feb 23;2(1):e000132corr1.

22.

Endoscopy and Laparoscopy in Disorders of Sex Development.

Tafazzoli K, Wünsch L, Bouteleux M, Lindert J, Schulz T, Birnbaum W, Marshall L, Hiort O, Tüshaus L.

Sex Dev. 2018;12(1-3):100-105. doi: 10.1159/000486871. Epub 2018 Feb 8.

PMID:
29414828
23.

Concluding Remarks - From Bench to Bed.

Hiort O.

Sex Dev. 2018;12(1-3):155-157. doi: 10.1159/000486880. Epub 2018 Feb 7. Review. No abstract available.

PMID:
29402865
24.

Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome.

Petroli RJ, Hiort O, Struve D, Gesing JK, Soardi FC, Spínola-Castro AM, Melo K, Prado Arnhold IJ, Maciel-Guerra AT, Guerra-Junior G, Werner R, de Mello MP.

Sex Dev. 2017;11(5-6):238-247. doi: 10.1159/000484882. Epub 2017 Dec 14.

PMID:
29237170
25.

Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets.

Meyerhoff N, Haffner D, Staude H, Wühl E, Marx M, Beetz R, Querfeld U, Holder M, Billing H, Rabl W, Schröder C, Hiort O, Brämswig JH, Richter-Unruh A, Schnabel D, Živičnjak M; Hypophosphatemic Rickets Study Group of the “Deutsche Gesellschaft für Kinderendokrinologie und -diabetologie” and “Gesellschaft für Pädiatrische Nephrologie”.

Pediatr Nephrol. 2018 Mar;33(3):447-456. doi: 10.1007/s00467-017-3820-3. Epub 2017 Oct 20.

PMID:
29058153
26.

Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development.

Fabbri-Scallet H, de Mello MP, Guerra-Júnior G, Maciel-Guerra AT, de Andrade JGR, de Queiroz CMC, Monlleó IL, Struve D, Hiort O, Werner R.

Hum Mutat. 2018 Jan;39(1):114-123. doi: 10.1002/humu.23353. Epub 2017 Nov 8.

PMID:
29027717
27.

Gonadectomy in Complete Androgen Insensitivity Syndrome: Why and When?

Döhnert U, Wünsch L, Hiort O.

Sex Dev. 2017;11(4):171-174. doi: 10.1159/000478082. Epub 2017 Jul 19.

28.

[Health Related Quality of Life, Self-Esteem and Health Behaviour on Average 6 Years after an Obesity Outpatient Lifestyle Program].

Menrath I, Gminder A, Hiort O, Thyen U.

Klin Padiatr. 2017 Jul;229(4):216-222. doi: 10.1055/s-0043-106853. Epub 2017 Jul 17. German.

PMID:
28718189
29.

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.

Werner R, Mönig I, Lünstedt R, Wünsch L, Thorns C, Reiz B, Krause A, Schwab KO, Binder G, Holterhus PM, Hiort O.

PLoS One. 2017 May 1;12(5):e0176720. doi: 10.1371/journal.pone.0176720. eCollection 2017.

30.

Birth Weight in Different Etiologies of Disorders of Sex Development.

Poyrazoglu S, Darendeliler F, Ahmed SF, Hughes I, Bryce J, Jiang J, Rodie M, Hiort O, Hannema SE, Bertelloni S, Lisa L, Guran T, Cools M, Desloovere A, Claahsen-van der Grinten HL, Nordenstrom A, Holterhus PM, Kohler B, Niedziela M, Krone N.

J Clin Endocrinol Metab. 2017 Mar 1;102(3):1044-1050. doi: 10.1210/jc.2016-3460.

31.

Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 'DSDnet'.

Kulle A, Krone N, Holterhus PM, Schuler G, Greaves RF, Juul A, de Rijke YB, Hartmann MF, Saba A, Hiort O, Wudy SA; EU COST Action.

Eur J Endocrinol. 2017 May;176(5):P1-P9. doi: 10.1530/EJE-16-0953. Epub 2017 Feb 10. Review.

32.

Pubertal Development in
17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency
.

Hiort O, Marshall L, Birnbaum W, Wünsch L, Holterhus PM, Döhnert U, Werner R.

Horm Res Paediatr. 2017;87(5):354-358. doi: 10.1159/000453613. Epub 2016 Dec 12.

PMID:
27951541
33.

Current models of care for disorders of sex development - results from an International survey of specialist centres.

Kyriakou A, Dessens A, Bryce J, Iotova V, Juul A, Krawczynski M, Nordenskjöld A, Rozas M, Sanders C, Hiort O, Ahmed SF.

Orphanet J Rare Dis. 2016 Nov 21;11(1):155.

34.

Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity.

Hornig NC, Ukat M, Schweikert HU, Hiort O, Werner R, Drop SL, Cools M, Hughes IA, Audi L, Ahmed SF, Demiri J, Rodens P, Worch L, Wehner G, Kulle AE, Dunstheimer D, Müller-Roßberg E, Reinehr T, Hadidi AT, Eckstein AK, van der Horst C, Seif C, Siebert R, Ammerpohl O, Holterhus PM.

J Clin Endocrinol Metab. 2016 Nov;101(11):4468-4477. Epub 2016 Sep 1.

35.

The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene.

Lucas-Herald A, Bertelloni S, Juul A, Bryce J, Jiang J, Rodie M, Sinnott R, Boroujerdi M, Lindhardt Johansen M, Hiort O, Holterhus PM, Cools M, Guaragna-Filho G, Guerra-Junior G, Weintrob N, Hannema S, Drop S, Guran T, Darendeliler F, Nordenstrom A, Hughes IA, Acerini C, Tadokoro-Cuccaro R, Ahmed SF.

J Clin Endocrinol Metab. 2016 Nov;101(11):3959-3967. Epub 2016 Jul 12.

36.

Perineal ultrasound offers useful information in girls with congenital adrenal hyperplasia.

Lindert J, Hiort O, Tüshaus L, Tafazzoli-Lari K, Wünsch L.

J Pediatr Urol. 2016 Dec;12(6):427.e1-427.e6. doi: 10.1016/j.jpurol.2016.08.010. Epub 2016 Sep 10.

PMID:
27751833
37.

Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene.

Şahin S, Hiort O, Thiele S, Evliyaoğlu O, Tüysüz B.

J Clin Res Pediatr Endocrinol. 2017 Mar 1;9(1):74-79. doi: 10.4274/jcrpe.3191. Epub 2016 Jul 18.

38.

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.

Thiele S, Mantovani G, Barlier A, Boldrin V, Bordogna P, De Sanctis L, Elli FM, Freson K, Garin I, Grybek V, Hanna P, Izzi B, Hiort O, Lecumberri B, Pereda A, Saraff V, Silve C, Turan S, Usardi A, Werner R, de Nanclares GP, Linglart A.

Eur J Endocrinol. 2016 Dec;175(6):P1-P17. Epub 2016 Jul 11. Review.

39.

Response to the Council of Europe Human Rights Commissioner's Issue Paper on Human Rights and Intersex People.

Cools M, Simmonds M, Elford S, Gorter J, Ahmed SF, D'Alberton F, Springer A, Hiort O; Management Committee of the European Cooperation in Science and Technology Action BM1303.

Eur Urol. 2016 Sep;70(3):407-9. doi: 10.1016/j.eururo.2016.05.015. Epub 2016 Jun 6.

40.

A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation.

Hornig NC, de Beaufort C, Denzer F, Cools M, Wabitsch M, Ukat M, Kulle AE, Schweikert HU, Werner R, Hiort O, Audi L, Siebert R, Ammerpohl O, Holterhus PM.

PLoS One. 2016 Apr 25;11(4):e0154158. doi: 10.1371/journal.pone.0154158. eCollection 2016.

41.

Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene.

Alikaşifoğlu A, Vurallı D, Hiort O, Gönç N, Özön A, Kandemir N.

J Clin Res Pediatr Endocrinol. 2015 Sep;7(3):249-52. doi: 10.4274/jcrpe.2069.

42.

Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation.

Werner R, Mönig I, August J, Freiberg C, Lünstedt R, Reiz B, Wünsch L, Holterhus PM, Kulle A, Döhnert U, Wudy SA, Richter-Unruh A, Thorns C, Hiort O.

Sex Dev. 2015;9(5):260-8. doi: 10.1159/000442309. Epub 2015 Dec 18.

PMID:
26681172
43.

Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia.

Serra A, Denzer F, Hiort O, Barth TF, Henne-Bruns D, Barbi G, Rettenberger G, Wabitsch M, Just W, Leriche C.

Sex Dev. 2015;9(3):136-43. doi: 10.1159/000430897. Epub 2015 Jun 3.

PMID:
26043854
44.

46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing.

Werner R, Merz H, Birnbaum W, Marshall L, Schröder T, Reiz B, Kavran JM, Bäumer T, Capetian P, Hiort O.

J Clin Endocrinol Metab. 2015 Jul;100(7):E1022-9. doi: 10.1210/jc.2015-1314. Epub 2015 Apr 30.

45.

A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene.

Thiele S, Werner R, Grötzinger J, Brix B, Staedt P, Struve D, Reiz B, Farida J, Hiort O.

Mol Genet Genomic Med. 2015 Mar;3(2):111-20. doi: 10.1002/mgg3.117. Epub 2014 Dec 4.

46.

Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome.

Doehnert U, Bertelloni S, Werner R, Dati E, Hiort O.

Sex Dev. 2015;9(2):69-74. doi: 10.1159/000371464. Epub 2015 Jan 20. Erratum in: Sex Dev. 2015;9(2). doi:10.1159/000371464. Sex Dev. 2015;9(3):182.

47.

Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.

Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, Cole T, Mann J, Seguin JH, Zipf W, Costigan C, Schmiady H, Rostásy M, Kramer M, Kaltenbach S, Rösler B, Georg I, Troppmann E, Teichmann AC, Salfelder A, Widholz SA, Wieacker P, Hiort O, Camerino G, Radi O, Wegner M, Arnold HH, Scherer G.

J Med Genet. 2015 Apr;52(4):240-7. doi: 10.1136/jmedgenet-2014-102864. Epub 2015 Jan 20.

PMID:
25604083
48.

Preserved fertility in a patient with gynecomastia associated with the p.Pro695Ser mutation in the androgen receptor.

Petroli RJ, Hiort O, Struve D, Maciel-Guerra AT, Guerra-Júnior G, Palandi de Mello M, Werner R.

Sex Dev. 2014;8(6):350-5. doi: 10.1159/000368862. Epub 2014 Nov 15.

PMID:
25401426
49.

Understanding differences and disorders of sex development. Foreword.

Hiort O, Ahmed SF.

Endocr Dev. 2014;27:VII-VIII. No abstract available.

PMID:
25373247
50.

International networks for supporting research and clinical care in the field of disorders of sex development.

Ahmed SF, Bryce J, Hiort O.

Endocr Dev. 2014;27:284-92. doi: 10.1159/000363676. Epub 2014 Sep 9. Review.

PMID:
25247663

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