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Kallmann Syndrome 4

MedGen UID:
387893
Concept ID:
C1857720
Disease or Syndrome

Professional guidelines

PubMed

Rey RA, Grinspon RP
Am J Mens Health 2020 May-Jun;14(3):1557988320922443. doi: 10.1177/1557988320922443. PMID: 32448030Free PMC Article
Krausz C, Cioppi F, Riera-Escamilla A
Expert Rev Mol Diagn 2018 Apr;18(4):331-346. Epub 2018 Mar 22 doi: 10.1080/14737159.2018.1453358. PMID: 29540081
Meczekalski B, Podfigurna-Stopa A, Smolarczyk R, Katulski K, Genazzani AR
Gynecol Endocrinol 2013 Apr;29(4):296-300. Epub 2013 Jan 31 doi: 10.3109/09513590.2012.752459. PMID: 23368665

Recent clinical studies

Etiology

Dwyer AA, Stamou MI, Anghel E, Hornstein S, Chen D, Salnikov KB, McDonald IR, Plummer L, Seminara SB, Balasubramanian R
J Clin Endocrinol Metab 2023 Mar 10;108(4):897-908. doi: 10.1210/clinem/dgac615. PMID: 36268624Free PMC Article
Yu B, Chen K, Mao J, Hou B, You H, Wang X, Nie M, Huang Q, Zhang R, Zhu Y, Sun B, Feng F, Zhou W, Wu X
Front Endocrinol (Lausanne) 2022;13:909623. Epub 2022 Sep 16 doi: 10.3389/fendo.2022.909623. PMID: 36187095Free PMC Article
Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Coelingh Bennink HJT, Egberts JFM, Mol JA, Roes KCB, van Diest PJ
J Clin Endocrinol Metab 2020 Sep 1;105(9) doi: 10.1210/clinem/dgaa404. PMID: 32594127
Hauser LJ, Jensen EL, Mirsky DM, Chan KH
Int J Pediatr Otorhinolaryngol 2018 Jul;110:135-139. Epub 2018 May 17 doi: 10.1016/j.ijporl.2018.05.011. PMID: 29859575

Diagnosis

Ben-Mahmoud A, Kishikawa S, Gupta V, Leach NT, Shen Y, Moldovan O, Goel H, Hopper B, Ranguin K, Gruchy N, Maas SM, Lacassie Y, Kim SH, Kim WY, Quade BJ, Morton CC, Kim CH, Layman LC, Kim HG
Sci Rep 2023 Aug 10;13(1):12984. doi: 10.1038/s41598-023-40037-4. PMID: 37563198Free PMC Article
Patil VA, Lila AR, Shah N, Arya S, Sarathi V, Shah R, Jadhav SS, Memon SS, Karlekar M, Bandgar T
Clin Endocrinol (Oxf) 2022 Dec;97(6):804-813. Epub 2022 Sep 30 doi: 10.1111/cen.14822. PMID: 36138264
Swee DS, Quinton R
Expert Rev Endocrinol Metab 2022 Jan;17(1):47-61. Epub 2022 Jan 7 doi: 10.1080/17446651.2022.2023008. PMID: 34994276
Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Meczekalski B, Podfigurna-Stopa A, Smolarczyk R, Katulski K, Genazzani AR
Gynecol Endocrinol 2013 Apr;29(4):296-300. Epub 2013 Jan 31 doi: 10.3109/09513590.2012.752459. PMID: 23368665

Therapy

Swee DS, Quinton R
Expert Rev Endocrinol Metab 2022 Jan;17(1):47-61. Epub 2022 Jan 7 doi: 10.1080/17446651.2022.2023008. PMID: 34994276
Rey RA, Grinspon RP
Am J Mens Health 2020 May-Jun;14(3):1557988320922443. doi: 10.1177/1557988320922443. PMID: 32448030Free PMC Article
Kim JH, Seo GH, Kim GH, Huh J, Hwang IT, Jang JH, Yoo HW, Choi JH
Exp Clin Endocrinol Diabetes 2019 Sep;127(8):538-544. Epub 2018 Sep 14 doi: 10.1055/a-0681-6608. PMID: 30216942
Maione L, Cantone E, Nettore IC, Cerbone G, De Brasi D, Maione N, Young J, Di Somma C, Sinisi AA, Iengo M, Macchia PE, Pivonello R, Colao A
Endocrine 2016 May;52(2):236-43. Epub 2015 Jul 25 doi: 10.1007/s12020-015-0690-y. PMID: 26209039
Matsumoto AM
Endocrinol Metab Clin North Am 1994 Dec;23(4):857-75. PMID: 7705324

Prognosis

Dwyer AA, Stamou MI, Anghel E, Hornstein S, Chen D, Salnikov KB, McDonald IR, Plummer L, Seminara SB, Balasubramanian R
J Clin Endocrinol Metab 2023 Mar 10;108(4):897-908. doi: 10.1210/clinem/dgac615. PMID: 36268624Free PMC Article
Patil VA, Lila AR, Shah N, Arya S, Sarathi V, Shah R, Jadhav SS, Memon SS, Karlekar M, Bandgar T
Clin Endocrinol (Oxf) 2022 Dec;97(6):804-813. Epub 2022 Sep 30 doi: 10.1111/cen.14822. PMID: 36138264
Wang S, Chai X, Yan Z, Zhao S, Yang Y, Li X, Niu Y, Lin G, Su Z, Wu Z, Zhang TJ, Wu N
Genes (Basel) 2021 Jul 24;12(8) doi: 10.3390/genes12081126. PMID: 34440300Free PMC Article
Prior M, Stewart J, McEleny K, Dwyer AA, Quinton R
Clin Endocrinol (Oxf) 2018 Dec;89(6):712-718. Epub 2018 Oct 9 doi: 10.1111/cen.13850. PMID: 30194850
Krausz C, Cioppi F, Riera-Escamilla A
Expert Rev Mol Diagn 2018 Apr;18(4):331-346. Epub 2018 Mar 22 doi: 10.1080/14737159.2018.1453358. PMID: 29540081

Clinical prediction guides

Ben-Mahmoud A, Kishikawa S, Gupta V, Leach NT, Shen Y, Moldovan O, Goel H, Hopper B, Ranguin K, Gruchy N, Maas SM, Lacassie Y, Kim SH, Kim WY, Quade BJ, Morton CC, Kim CH, Layman LC, Kim HG
Sci Rep 2023 Aug 10;13(1):12984. doi: 10.1038/s41598-023-40037-4. PMID: 37563198Free PMC Article
Patil VA, Lila AR, Shah N, Arya S, Sarathi V, Shah R, Jadhav SS, Memon SS, Karlekar M, Bandgar T
Clin Endocrinol (Oxf) 2022 Dec;97(6):804-813. Epub 2022 Sep 30 doi: 10.1111/cen.14822. PMID: 36138264
Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Balasubramanian R, Crowley WF Jr
Am J Med Genet C Semin Med Genet 2017 Dec;175(4):507-515. Epub 2017 Nov 20 doi: 10.1002/ajmg.c.31585. PMID: 29152903Free PMC Article
Topaloglu AK, Kotan LD
Curr Opin Obstet Gynecol 2010 Aug;22(4):264-70. doi: 10.1097/GCO.0b013e32833bb425. PMID: 20543690

Recent systematic reviews

Patil VA, Lila AR, Shah N, Arya S, Sarathi V, Shah R, Jadhav SS, Memon SS, Karlekar M, Bandgar T
Clin Endocrinol (Oxf) 2022 Dec;97(6):804-813. Epub 2022 Sep 30 doi: 10.1111/cen.14822. PMID: 36138264

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