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Hypogonadotropic hypogonadism associated with other endocrinopathies

MedGen UID:
1842814
Concept ID:
C5680475
Disease or Syndrome
Synonym: Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
 
Orphanet: ORPHA181390

Professional guidelines

PubMed

Gaudino R, De Filippo G, Bozzola E, Gasparri M, Bozzola M, Villani A, Radetti G
Ital J Pediatr 2022 Mar 24;48(1):45. doi: 10.1186/s13052-022-01242-5. PMID: 35331309Free PMC Article
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. PMID: 30698671
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article

Recent clinical studies

Etiology

Salonia A, Bettocchi C, Boeri L, Capogrosso P, Carvalho J, Cilesiz NC, Cocci A, Corona G, Dimitropoulos K, Gül M, Hatzichristodoulou G, Jones TH, Kadioglu A, Martínez Salamanca JI, Milenkovic U, Modgil V, Russo GI, Serefoglu EC, Tharakan T, Verze P, Minhas S; EAU Working Group on Male Sexual and Reproductive Health
Eur Urol 2021 Sep;80(3):333-357. Epub 2021 Jun 26 doi: 10.1016/j.eururo.2021.06.007. PMID: 34183196
Zitzmann M
Andrology 2020 Nov;8(6):1598-1605. Epub 2020 Jul 30 doi: 10.1111/andr.12867. PMID: 32657051
Guerri G, Maniscalchi T, Barati S, Dhuli K, Busetto GM, Del Giudice F, De Berardinis E, De Antoni L, Miertus J, Bertelli M
Acta Biomed 2019 Sep 30;90(10-S):75-82. doi: 10.23750/abm.v90i10-S.8764. PMID: 31577259Free PMC Article
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group
Neurology 2014 Nov 18;83(21):1898-905. Epub 2014 Oct 22 doi: 10.1212/WNL.0000000000001002. PMID: 25339210Free PMC Article
Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A
J Clin Endocrinol Metab 2013 Jan;98(1):20-30. Epub 2012 Nov 1 doi: 10.1210/jc.2012-2382. PMID: 23118429

Diagnosis

Salonia A, Bettocchi C, Boeri L, Capogrosso P, Carvalho J, Cilesiz NC, Cocci A, Corona G, Dimitropoulos K, Gül M, Hatzichristodoulou G, Jones TH, Kadioglu A, Martínez Salamanca JI, Milenkovic U, Modgil V, Russo GI, Serefoglu EC, Tharakan T, Verze P, Minhas S; EAU Working Group on Male Sexual and Reproductive Health
Eur Urol 2021 Sep;80(3):333-357. Epub 2021 Jun 26 doi: 10.1016/j.eururo.2021.06.007. PMID: 34183196
Vilar L, Vilar CF, Lyra R, Freitas MDC
Neuroendocrinology 2019;109(1):7-19. Epub 2019 Mar 20 doi: 10.1159/000499694. PMID: 30889571
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. PMID: 30698671
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article
Stein E, Shane E
Endocrinol Metab Clin North Am 2003 Mar;32(1):115-34, vii. doi: 10.1016/s0889-8529(02)00062-2. PMID: 12699295

Therapy

Pencina KM, Travison TG, Artz AS, Lincoff AM, Nissen SE, Flevaris P, Chan A, Li X, Diegel SA, Wannemuehler K, Bhasin S
JAMA Netw Open 2023 Oct 2;6(10):e2340030. doi: 10.1001/jamanetworkopen.2023.40030. PMID: 37889486Free PMC Article
Indirli R, Lanzi V, Arosio M, Mantovani G, Ferrante E
Front Endocrinol (Lausanne) 2023;14:1198437. Epub 2023 Aug 10 doi: 10.3389/fendo.2023.1198437. PMID: 37635965Free PMC Article
Zitzmann M
Andrology 2020 Nov;8(6):1598-1605. Epub 2020 Jul 30 doi: 10.1111/andr.12867. PMID: 32657051
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. PMID: 30698671
Stein E, Shane E
Endocrinol Metab Clin North Am 2003 Mar;32(1):115-34, vii. doi: 10.1016/s0889-8529(02)00062-2. PMID: 12699295

Prognosis

Venou TM, Barmpageorgopoulou F, Peppa M, Vlachaki E
Hormones (Athens) 2024 Jun;23(2):205-216. Epub 2023 Dec 16 doi: 10.1007/s42000-023-00515-w. PMID: 38103163
Rochira V
Andrology 2020 Nov;8(6):1539-1550. Epub 2020 Jun 17 doi: 10.1111/andr.12827. PMID: 32469467
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group
Neurology 2014 Nov 18;83(21):1898-905. Epub 2014 Oct 22 doi: 10.1212/WNL.0000000000001002. PMID: 25339210Free PMC Article
Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N
Am J Hum Genet 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008. PMID: 23643382Free PMC Article
Clayton RN
Baillieres Clin Endocrinol Metab 1996 Jan;10(1):1-8. doi: 10.1016/s0950-351x(96)80250-3. PMID: 8734448

Clinical prediction guides

Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group
Neurology 2014 Nov 18;83(21):1898-905. Epub 2014 Oct 22 doi: 10.1212/WNL.0000000000001002. PMID: 25339210Free PMC Article
Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N
Am J Hum Genet 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008. PMID: 23643382Free PMC Article
Goswami D, Conway GS
Hum Reprod Update 2005 Jul-Aug;11(4):391-410. Epub 2005 May 26 doi: 10.1093/humupd/dmi012. PMID: 15919682
Harman SM, Metter EJ, Tobin JD, Pearson J, Blackman MR; Baltimore Longitudinal Study of Aging
J Clin Endocrinol Metab 2001 Feb;86(2):724-31. doi: 10.1210/jcem.86.2.7219. PMID: 11158037
Clayton RN
Baillieres Clin Endocrinol Metab 1996 Jan;10(1):1-8. doi: 10.1016/s0950-351x(96)80250-3. PMID: 8734448

Recent systematic reviews

Gonzalez-Daza SJ, Díaz-Hung AM, García-Perdomo HA
Actas Urol Esp (Engl Ed) 2024 Dec;48(10):751-759. Epub 2024 Jul 1 doi: 10.1016/j.acuroe.2024.06.006. PMID: 38960064
Arefhosseini S, Ebrahimi-Mameghani M, Najafipour F, Tutunchi H
Front Endocrinol (Lausanne) 2022;13:1032361. Epub 2022 Nov 7 doi: 10.3389/fendo.2022.1032361. PMID: 36419770Free PMC Article
Salonia A, Bettocchi C, Boeri L, Capogrosso P, Carvalho J, Cilesiz NC, Cocci A, Corona G, Dimitropoulos K, Gül M, Hatzichristodoulou G, Jones TH, Kadioglu A, Martínez Salamanca JI, Milenkovic U, Modgil V, Russo GI, Serefoglu EC, Tharakan T, Verze P, Minhas S; EAU Working Group on Male Sexual and Reproductive Health
Eur Urol 2021 Sep;80(3):333-357. Epub 2021 Jun 26 doi: 10.1016/j.eururo.2021.06.007. PMID: 34183196
Deebel NA, Galdon G, Zarandi NP, Stogner-Underwood K, Howards S, Lovato J, Kogan S, Atala A, Lue Y, Sadri-Ardekani H
Hum Reprod Update 2020 Jan 1;26(1):58-72. doi: 10.1093/humupd/dmz038. PMID: 31822886
Vandekerckhove P, Lilford R, Vail A, Hughes E
Cochrane Database Syst Rev 2000;1996(2):CD000152. doi: 10.1002/14651858.CD000152. PMID: 10796498Free PMC Article

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