Etiology
Corona G,
Rastrelli G,
Dicuio M,
Concetti S,
Minnetti M,
Pivonello R,
Isidori A,
Sforza A,
Maggi M
Minerva Endocrinol (Torino)
2021 Sep;46(3):252-261.
Epub 2020 Sep 24
doi: 10.23736/S2724-6507.20.03208-3.
PMID: 32969626
Ashrafi MR,
Amanat M,
Garshasbi M,
Kameli R,
Nilipour Y,
Heidari M,
Rezaei Z,
Tavasoli AR
Expert Rev Neurother
2020 Jan;20(1):65-84.
Epub 2019 Dec 12
doi: 10.1080/14737175.2020.1699060.
PMID: 31829048
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
Salonia A,
Rastrelli G,
Hackett G,
Seminara SB,
Huhtaniemi IT,
Rey RA,
Hellstrom WJG,
Palmert MR,
Corona G,
Dohle GR,
Khera M,
Chan YM,
Maggi M
Nat Rev Dis Primers
2019 May 30;5(1):38.
doi: 10.1038/s41572-019-0087-y.
PMID: 31147553Free 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
Diagnosis
Gravholt CH,
Viuff M,
Just J,
Sandahl K,
Brun S,
van der Velden J,
Andersen NH,
Skakkebaek A
Endocr Rev
2023 Jan 12;44(1):33-69.
doi: 10.1210/endrev/bnac016.
PMID: 35695701
Cioppi F,
Rosta V,
Krausz C
Int J Mol Sci
2021 Mar 23;22(6)
doi: 10.3390/ijms22063264.
PMID: 33806855Free PMC Article
Gravholt CH,
Viuff MH,
Brun S,
Stochholm K,
Andersen NH
Nat Rev Endocrinol
2019 Oct;15(10):601-614.
Epub 2019 Jun 18
doi: 10.1038/s41574-019-0224-4.
PMID: 31213699
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
Fraietta R,
Zylberstejn DS,
Esteves SC
Clinics (Sao Paulo)
2013;68 Suppl 1(Suppl 1):81-8.
doi: 10.6061/clinics/2013(sup01)09.
PMID: 23503957Free PMC Article
Therapy
Nordenström A,
Ahmed SF,
van den Akker E,
Blair J,
Bonomi M,
Brachet C,
Broersen LHA,
Claahsen-van der Grinten HL,
Dessens AB,
Gawlik A,
Gravholt CH,
Juul A,
Krausz C,
Raivio T,
Smyth A,
Touraine P,
Vitali D,
Dekkers OM
Eur J Endocrinol
2022 Apr 21;186(6):G9-G49.
doi: 10.1530/EJE-22-0073.
PMID: 35353710Free PMC Article
Corona G,
Rastrelli G,
Dicuio M,
Concetti S,
Minnetti M,
Pivonello R,
Isidori A,
Sforza A,
Maggi M
Minerva Endocrinol (Torino)
2021 Sep;46(3):252-261.
Epub 2020 Sep 24
doi: 10.23736/S2724-6507.20.03208-3.
PMID: 32969626
Boeri L,
Capogrosso P,
Salonia A
Curr Pharm Des
2021;27(24):2775-2783.
doi: 10.2174/1381612826666200523175806.
PMID: 32445446
Gravholt CH,
Viuff MH,
Brun S,
Stochholm K,
Andersen NH
Nat Rev Endocrinol
2019 Oct;15(10):601-614.
Epub 2019 Jun 18
doi: 10.1038/s41574-019-0224-4.
PMID: 31213699
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
Prognosis
Butler G,
Purushothaman P
Minerva Pediatr
2020 Dec;72(6):484-490.
Epub 2020 Aug 4
doi: 10.23736/S0026-4946.20.05968-X.
PMID: 32748610
Meyer EJ,
Wittert G
Asian J Androl
2018 Mar-Apr;20(2):115-119.
doi: 10.4103/aja.aja_70_17.
PMID: 29384142Free PMC Article
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.
Epub 2015 Jul 21
doi: 10.1038/nrendo.2015.112.
PMID: 26194704
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
Kalaydjieva L
Orphanet J Rare Dis
2006 Aug 29;1:32.
doi: 10.1186/1750-1172-1-32.
PMID: 16939648Free PMC Article
Clinical prediction guides
Butler G,
Purushothaman P
Minerva Pediatr
2020 Dec;72(6):484-490.
Epub 2020 Aug 4
doi: 10.23736/S0026-4946.20.05968-X.
PMID: 32748610
Weiss K,
Lazar HP,
Kurolap A,
Martinez AF,
Paperna T,
Cohen L,
Smeland MF,
Whalen S,
Heide S,
Keren B,
Terhal P,
Irving M,
Takaku M,
Roberts JD,
Petrovich RM,
Schrier Vergano SA,
Kenney A,
Hove H,
DeChene E,
Quinonez SC,
Colin E,
Ziegler A,
Rumple M,
Jain M,
Monteil D,
Roeder ER,
Nugent K,
van Haeringen A,
Gambello M,
Santani A,
Medne L,
Krock B,
Skraban CM,
Zackai EH,
Dubbs HA,
Smol T,
Ghoumid J,
Parker MJ,
Wright M,
Turnpenny P,
Clayton-Smith J,
Metcalfe K,
Kurumizaka H,
Gelb BD,
Baris Feldman H,
Campeau PM,
Muenke M,
Wade PA,
Lachlan K
Genet Med
2020 Feb;22(2):389-397.
Epub 2019 Aug 7
doi: 10.1038/s41436-019-0612-0.
PMID: 31388190Free PMC Article
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.
Epub 2015 Jul 21
doi: 10.1038/nrendo.2015.112.
PMID: 26194704
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
Kalaydjieva L
Orphanet J Rare Dis
2006 Aug 29;1:32.
doi: 10.1186/1750-1172-1-32.
PMID: 16939648Free PMC Article