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Items: 1 to 50 of 115

1.

Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism.

Malone SA, Papadakis GE, Messina A, Mimouni NEH, Trova S, Imbernon M, Allet C, Cimino I, Acierno J, Cassatella D, Xu C, Quinton R, Szinnai G, Pigny P, Alonso-Cotchico L, Masgrau L, Maréchal JD, Prevot V, Pitteloud N, Giacobini P.

Elife. 2019 Jul 10;8. pii: e47198. doi: 10.7554/eLife.47198.

2.

Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History.

Dwyer AA, Chavan NR, Lewkowitz-Shpuntoff H, Plummer L, Hayes FJ, Seminara SB, Crowley WF, Pitteloud N, Balasubramanian R.

J Clin Endocrinol Metab. 2019 Aug 1;104(8):3403-3414. doi: 10.1210/jc.2018-02697.

PMID:
31220265
3.

Clomiphene citrate effect on testosterone level and semen parameters in 18 infertile men with low testosterone level and normal/low gonadotropines level.

Surbone A, Vaucher L, Primi MP, Leyvraz C, Pitteloud N, Ballabeni P, Mathevet P, Vulliemoz N.

Eur J Obstet Gynecol Reprod Biol. 2019 Jul;238:104-109. doi: 10.1016/j.ejogrb.2019.05.011. Epub 2019 May 11.

PMID:
31128532
4.

A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay.

Antoniou MC, Bouthors T, Xu C, Phan-Hug F, Elowe-Gruau E, Stoppa-Vaucher S, Sloot AV, Acierno J, Cassatella D, Richard C, Dwyer A, Pitteloud N, Hauschild M.

Ann Pediatr Endocrinol Metab. 2019 Mar;24(1):49-54. doi: 10.6065/apem.2019.24.1.49. Epub 2019 Mar 31.

5.

Clinical Management of Congenital Hypogonadotropic Hypogonadism.

Young J, Xu C, Papadakis GE, Acierno JS, Maione L, Hietamäki J, Raivio T, Pitteloud N.

Endocr Rev. 2019 Apr 1;40(2):669-710. doi: 10.1210/er.2018-00116. Review.

PMID:
30698671
6.

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorder of sex development.

Kolesinska Z, Acierno J, Ahmed SF, Xu C, Kapczuk K, Skorczyk-Werner A, Mikos H, Rojek A, Massouras A, Krawczyński M, Pitteloud N, Niedziela M.

Endocr Connect. 2018 Nov 1. pii: EC-18-0472. doi: 10.1530/EC-18-0472. [Epub ahead of print]

7.

Thyrotropin-secreting pituitary adenomas: a systematic review and meta-analysis of postoperative outcomes and management.

Cossu G, Daniel RT, Pierzchala K, Berhouma M, Pitteloud N, Lamine F, Colao A, Messerer M.

Pituitary. 2019 Feb;22(1):79-88. doi: 10.1007/s11102-018-0921-3.

PMID:
30390277
8.

Intraoperative 2D C-arm and 3D O-arm in children: a comparative phantom study.

Prod'homme M, Sans-Merce M, Pitteloud N, Damet J, Lascombes P.

J Child Orthop. 2018 Oct 1;12(5):550-557. doi: 10.1302/1863-2548.12.180016.

9.

The Reduction of Visceral Adipose Tissue after Roux-en-Y Gastric Bypass Is more Pronounced in Patients with Impaired Glucose Metabolism.

Favre L, Marino L, Roth A, Acierno J Jr, Hans D, Demartines N, Pitteloud N, Suter M, Collet TH.

Obes Surg. 2018 Dec;28(12):4006-4013. doi: 10.1007/s11695-018-3455-x.

10.

Accuracy, satisfaction and usability of a flash glucose monitoring system among children and adolescents with type 1 diabetes attending a summer camp.

Hansen EA, Klee P, Dirlewanger M, Bouthors T, Elowe-Gruau E, Stoppa-Vaucher S, Phan-Hug F, Antoniou MC, Pasquier J, Dwyer AA, Pitteloud N, Hauschild M.

Pediatr Diabetes. 2018 Nov;19(7):1276-1284. doi: 10.1111/pedi.12723. Epub 2018 Jul 31.

PMID:
30014625
11.

β-Klotho deficiency shifts the gut-liver bile acid axis and induces hepatic alterations in mice.

Somm E, Henry H, Bruce SJ, Bonnet N, Montandon SA, Niederländer NJ, Messina A, Aeby S, Rosikiewicz M, Fajas L, Sempoux C, Ferrari SL, Greub G, Pitteloud N.

Am J Physiol Endocrinol Metab. 2018 Nov 1;315(5):E833-E847. doi: 10.1152/ajpendo.00182.2018. Epub 2018 Jun 26.

12.

Transition of Care from Childhood to Adulthood: Congenital Hypogonadotropic Hypogonadism.

Dwyer AA, Pitteloud N.

Endocr Dev. 2018;33:82-98. doi: 10.1159/000487527. Epub 2018 Jun 8.

PMID:
29886503
13.

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.

Cassatella D, Howard SR, Acierno JS, Xu C, Papadakis GE, Santoni FA, Dwyer AA, Santini S, Sykiotis GP, Chambion C, Meylan J, Marino L, Favre L, Li J, Liu X, Zhang J, Bouloux PM, Geyter C, Paepe A, Dhillo WS, Ferrara JM, Hauschild M, Lang-Muritano M, Lemke JR, Flück C, Nemeth A, Phan-Hug F, Pignatelli D, Popovic V, Pekic S, Quinton R, Szinnai G, l'Allemand D, Konrad D, Sharif S, Iyidir ÖT, Stevenson BJ, Yang H, Dunkel L, Pitteloud N.

Eur J Endocrinol. 2018 Apr;178(4):377-388. doi: 10.1530/EJE-17-0568. Epub 2018 Feb 1.

14.

DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.

Bouilly J, Messina A, Papadakis G, Cassatella D, Xu C, Acierno JS, Tata B, Sykiotis G, Santini S, Sidis Y, Elowe-Gruau E, Phan-Hug F, Hauschild M, Bouloux PM, Quinton R, Lang-Muritano M, Favre L, Marino L, Giacobini P, Dwyer AA, Niederländer NJ, Pitteloud N.

Hum Mol Genet. 2018 Jan 15;27(2):359-372. doi: 10.1093/hmg/ddx408.

PMID:
29202173
15.

Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.

Xu C, Cassatella D, van der Sloot AM, Quinton R, Hauschild M, De Geyter C, Flück C, Feller K, Bartholdi D, Nemeth A, Halperin I, Pekic Djurdjevic S, Maeder P, Papadakis G, Dwyer AA, Marino L, Favre L, Pignatelli D, Niederländer NJ, Acierno J, Pitteloud N.

Genet Med. 2018 Aug;20(8):872-881. doi: 10.1038/gim.2017.197. Epub 2017 Nov 16.

PMID:
29144511
16.

Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.

Tommiska J, Känsäkoski J, Skibsbye L, Vaaralahti K, Liu X, Lodge EJ, Tang C, Yuan L, Fagerholm R, Kanters JK, Lahermo P, Kaunisto M, Keski-Filppula R, Vuoristo S, Pulli K, Ebeling T, Valanne L, Sankila EM, Kivirikko S, Lääperi M, Casoni F, Giacobini P, Phan-Hug F, Buki T, Tena-Sempere M, Pitteloud N, Veijola R, Lipsanen-Nyman M, Kaunisto K, Mollard P, Andoniadou CL, Hirsch JA, Varjosalo M, Jespersen T, Raivio T.

Nat Commun. 2017 Nov 3;8(1):1289. doi: 10.1038/s41467-017-01429-z.

17.

KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.

Xu C, Messina A, Somm E, Miraoui H, Kinnunen T, Acierno J Jr, Niederländer NJ, Bouilly J, Dwyer AA, Sidis Y, Cassatella D, Sykiotis GP, Quinton R, De Geyter C, Dirlewanger M, Schwitzgebel V, Cole TR, Toogood AA, Kirk JM, Plummer L, Albrecht U, Crowley WF Jr, Mohammadi M, Tena-Sempere M, Prevot V, Pitteloud N.

EMBO Mol Med. 2017 Oct;9(10):1379-1397. doi: 10.15252/emmm.201607376.

18.

Beyond hormone replacement: quality of life in women with congenital hypogonadotropic hypogonadism.

Dzemaili S, Tiemensma J, Quinton R, Pitteloud N, Morin D, Dwyer AA.

Endocr Connect. 2017 Aug;6(6):404-412. doi: 10.1530/EC-17-0095. Epub 2017 Jul 11.

19.

[Patients with variations of sex development : an example of interdisciplinary care].

Phan-Hug F, Kraus C, Paoloni-Giacobino A, Fellmann F, Typaldou SA, Ansermet F, Alamo L, Eggert N, Pelet O, Vial Y, Muehlethaler V, Birraux J, Ramseyer P, Renteria SC, Dwyer A, Pitteloud N, Meyrat BJ.

Rev Med Suisse. 2016 Nov 9;12(538):1923-1929. French.

PMID:
28696598
20.

Glycaemic, blood pressure and lipid goal attainment and chronic kidney disease stage of type 2 diabetic patients treated in primary care practices.

Corcillo A, Pivin E, Lalubin F, Pitteloud N, Burnier M, Zanchi A.

Swiss Med Wkly. 2017 Jul 6;147:w14459. doi: 10.4414/smw.2017.14459. eCollection 2017.

21.

β-Klotho deficiency protects against obesity through a crosstalk between liver, microbiota, and brown adipose tissue.

Somm E, Henry H, Bruce SJ, Aeby S, Rosikiewicz M, Sykiotis GP, Asrih M, Jornayvaz FR, Denechaud PD, Albrecht U, Mohammadi M, Dwyer A, Acierno JS Jr, Schoonjans K, Fajas L, Greub G, Pitteloud N.

JCI Insight. 2017 Apr 20;2(8). pii: 91809. doi: 10.1172/jci.insight.91809. eCollection 2017 Apr 20.

22.

Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice.

Marcos S, Monnier C, Rovira X, Fouveaut C, Pitteloud N, Ango F, Dodé C, Hardelin JP.

Hum Mol Genet. 2017 Jun 1;26(11):2006-2017. doi: 10.1093/hmg/ddx080.

PMID:
28334861
23.

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism.

COST Action BM1105, Badiu C, Bonomi M, Borshchevsky I, Cools M, Craen M, Ghervan C, Hauschild M, Hershkovitz E, Hrabovszky E, Juul A, Kim SH, Kumanov P, Lecumberri B, Lemos MC, Neocleous V, Niedziela M, Djurdjevic SP, Persani L, Phan-Hug F, Pignatelli D, Pitteloud N, Popovic V, Quinton R, Skordis N, Smith N, Stefanija MA, Xu C, Young J, Dwyer AA.

Orphanet J Rare Dis. 2017 Mar 20;12(1):57. doi: 10.1186/s13023-017-0608-2.

24.

The induction of ovulation by pulsatile administration of GnRH: an appropriate method in hypothalamic amenorrhea.

Christou F, Pitteloud N, Gomez F.

Gynecol Endocrinol. 2017 Aug;33(8):598-601. doi: 10.1080/09513590.2017.1296948. Epub 2017 Mar 6.

PMID:
28277105
25.

Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism.

Xu C, Lang-Muritano M, Phan-Hug F, Dwyer AA, Sykiotis GP, Cassatella D, Acierno J Jr, Mohammadi M, Pitteloud N.

Clin Genet. 2017 Aug;92(2):213-216. doi: 10.1111/cge.12996. Epub 2017 Mar 30.

26.

REV-ERBα regulates Fgf21 expression in the liver via hepatic nuclear factor 6.

Chavan R, Preitner N, Okabe T, Strittmatter LM, Xu C, Ripperger JA, Pitteloud N, Albrecht U.

Biol Open. 2017 Jan 15;6(1):1-7. doi: 10.1242/bio.021519.

27.

Radiation exposure using the O-arm® surgical imaging system.

Pitteloud N, Gamulin A, Barea C, Damet J, Racloz G, Sans-Merce M.

Eur Spine J. 2017 Mar;26(3):651-657. doi: 10.1007/s00586-016-4773-0. Epub 2016 Sep 21.

PMID:
27652675
28.

Adherence to treatment in men with hypogonadotrophic hypogonadism.

Dwyer AA, Tiemensma J, Quinton R, Pitteloud N, Morin D.

Clin Endocrinol (Oxf). 2017 Mar;86(3):377-383. doi: 10.1111/cen.13236. Epub 2017 Jan 11.

PMID:
27647266
29.

Surgical treatment of acromegaly according to the 2010 remission criteria: systematic review and meta-analysis.

Starnoni D, Daniel RT, Marino L, Pitteloud N, Levivier M, Messerer M.

Acta Neurochir (Wien). 2016 Nov;158(11):2109-2121. Epub 2016 Sep 2.

PMID:
27586125
30.

Chronic kidney disease in type 2 diabetic patients followed-up by primary care physicians in Switzerland: prevalence and prescription of antidiabetic drugs.

Lamine F, Lalubin F, Pitteloud N, Burnier M, Zanchi A.

Swiss Med Wkly. 2016 Feb 28;146:w14282. doi: 10.4414/smw.2016.14282. eCollection 2016.

31.

MANAGEMENT OF ENDOCRINE DISEASE: Reversible hypogonadotropic hypogonadism.

Dwyer AA, Raivio T, Pitteloud N.

Eur J Endocrinol. 2016 Jun;174(6):R267-74. doi: 10.1530/EJE-15-1033. Epub 2016 Jan 20. Review.

PMID:
26792935
32.

Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.

Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J.

Nat Rev Endocrinol. 2015 Sep;11(9):547-64. doi: 10.1038/nrendo.2015.112. Epub 2015 Jul 21. Review.

PMID:
26194704
33.

Gonadotropin-releasing hormone receptor mutations in ageing men.

Tommiska J, Känsäkoski J, Pitteloud N, Wu F, Raivio T.

Clin Endocrinol (Oxf). 2016 Jan;84(1):150-1. doi: 10.1111/cen.12833. Epub 2015 Jul 1. No abstract available.

PMID:
26044071
34.

[Inborn errors of metabolism: transition from childhood to adulthood].

Tran C, Barbey F, Pitteloud N, Philippe J, Kern I, Bonafé L.

Rev Med Suisse. 2015 Feb 18;11(462):445-9. French.

PMID:
25915985
35.

Hypogonadotropic Hypogonadism (HH) and Gonadotropin Therapy.

Hayes F, Dwyer A, Pitteloud N.

In: Feingold KR, Anawalt B, Boyce A, Chrousos G, Dungan K, Grossman A, Hershman JM, Kaltsas G, Koch C, Kopp P, Korbonits M, McLachlan R, Morley JE, New M, Perreault L, Purnell J, Rebar R, Singer F, Trence DL, Vinik A, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-.
2013 Nov 25.

36.

Mid-gut ACTH-secreting neuroendocrine tumor unmasked with (18)F-dihydroxyphenylalanine-positron emission tomography.

Ducry J, Gomez F, Prior JO, Boubaker A, Matter M, Monti M, Pu Y, Pitteloud N, Portmann L.

Endocrinol Diabetes Metab Case Rep. 2015;2015:140104. doi: 10.1530/EDM-14-0104. Epub 2015 Mar 1.

37.

Psychosexual development in men with congenital hypogonadotropic hypogonadism on long-term treatment: a mixed methods study.

Dwyer AA, Quinton R, Pitteloud N, Morin D.

Sex Med. 2015 Mar;3(1):32-41. doi: 10.1002/sm2.50.

38.

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies.

Correa FA, Trarbach EB, Tusset C, Latronico AC, Montenegro LR, Carvalho LR, Franca MM, Otto AP, Costalonga EF, Brito VN, Abreu AP, Nishi MY, Jorge AA, Arnhold IJ, Sidis Y, Pitteloud N, Mendonca BB.

Endocr Connect. 2015 Jun;4(2):100-7. doi: 10.1530/EC-15-0015. Epub 2015 Mar 10.

39.

Natural history of growth hormone deficiency in a pediatric cohort.

Deillon E, Hauschild M, Faouzi M, Stoppa-Vaucher S, Elowe-Gruau E, Dwyer A, Theintz GE, Dubuis JM, Mullis PE, Pitteloud N, Phan-Hug F.

Horm Res Paediatr. 2015;83(4):252-61. doi: 10.1159/000369392. Epub 2015 Feb 11.

40.

TRANSITION IN ENDOCRINOLOGY: Hypogonadism in adolescence.

Dwyer AA, Phan-Hug F, Hauschild M, Elowe-Gruau E, Pitteloud N.

Eur J Endocrinol. 2015 Jul;173(1):R15-24. doi: 10.1530/EJE-14-0947. Epub 2015 Feb 4. Review.

PMID:
25653257
41.

Gonadotrophin replacement for induction of fertility in hypogonadal men.

Dwyer AA, Raivio T, Pitteloud N.

Best Pract Res Clin Endocrinol Metab. 2015 Jan;29(1):91-103. doi: 10.1016/j.beem.2014.10.005. Epub 2014 Oct 27. Review.

PMID:
25617175
42.

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.

Villanueva C, Jacobson-Dickman E, Xu C, Manouvrier S, Dwyer AA, Sykiotis GP, Beenken A, Liu Y, Tommiska J, Hu Y, Tiosano D, Gerard M, Leger J, Drouin-Garraud V, Lefebvre H, Polak M, Carel JC, Phan-Hug F, Hauschild M, Plummer L, Rey JP, Raivio T, Bouloux P, Sidis Y, Mohammadi M, de Roux N, Pitteloud N.

Genet Med. 2015 Aug;17(8):651-9. doi: 10.1038/gim.2014.166. Epub 2014 Nov 13.

44.

Hormonal control of spermatogenesis in men: therapeutic aspects in hypogonadotropic hypogonadism.

Pitteloud N, Dwyer A.

Ann Endocrinol (Paris). 2014 May;75(2):98-100. doi: 10.1016/j.ando.2014.04.002. Epub 2014 Apr 29. Review.

PMID:
24793994
45.

[How do Swiss family physicians treat subclinical hypothyroidism?].

Virgini V, Baumgartner C, Bischoff T, Haller DM, Frey P, Rosemann T, Collet TH, Sykiotis G, Pitteloud N, Rodondi N.

Rev Med Suisse. 2014 Mar 5;10(420):526-9. French.

PMID:
24701670
46.

[Follow-up and management of children born small for gestational age a endocrine and metabolic aspects].

Elowe-Gruau E, Phan-Hug F, Stoppa-Vaucher S, Pitteloud N, Hauschild M.

Rev Med Suisse. 2014 Feb 19;10(418):424, 426-9. French.

PMID:
24640277
47.

Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism.

Känsäkoski J, Fagerholm R, Laitinen EM, Vaaralahti K, Hackman P, Pitteloud N, Raivio T, Tommiska J.

Pediatr Res. 2014 May;75(5):641-4. doi: 10.1038/pr.2014.23. Epub 2014 Feb 12.

PMID:
24522099
48.

Absence of central circadian pacemaker abnormalities in humans with loss of function mutation in prokineticin 2.

Balasubramanian R, Cohen DA, Klerman EB, Pignatelli D, Hall JE, Dwyer AA, Czeisler CA, Pitteloud N, Crowley WF.

J Clin Endocrinol Metab. 2014 Mar;99(3):E561-6. doi: 10.1210/jc.2013-2096. Epub 2014 Jan 1.

49.

Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.

Sidhoum VF, Chan YM, Lippincott MF, Balasubramanian R, Quinton R, Plummer L, Dwyer A, Pitteloud N, Hayes FJ, Hall JE, Martin KA, Boepple PA, Seminara SB.

J Clin Endocrinol Metab. 2014 Mar;99(3):861-70. doi: 10.1210/jc.2013-2809. Epub 2013 Jan 1.

50.

Trial of recombinant follicle-stimulating hormone pretreatment for GnRH-induced fertility in patients with congenital hypogonadotropic hypogonadism.

Dwyer AA, Sykiotis GP, Hayes FJ, Boepple PA, Lee H, Loughlin KR, Dym M, Sluss PM, Crowley WF Jr, Pitteloud N.

J Clin Endocrinol Metab. 2013 Nov;98(11):E1790-5. doi: 10.1210/jc.2013-2518. Epub 2013 Sep 13.

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