Etiology
Jayasena CN,
Devine K,
Barber K,
Comninos AN,
Conway GS,
Crown A,
Davies MC,
Ewart A,
Seal LJ,
Smyth A,
Turner HE,
Webber L,
Anderson RA,
Quinton R
Clin Endocrinol (Oxf)
2024 Nov;101(5):409-442.
Epub 2024 Jun 21
doi: 10.1111/cen.15097.
PMID: 39031660
Mills EG,
Yang L,
Nielsen MF,
Kassem M,
Dhillo WS,
Comninos AN
Endocr Rev
2021 Nov 16;42(6):691-719.
doi: 10.1210/endrev/bnab015.
PMID: 33901271Free PMC Article
Thakker S,
Persily J,
Najari BB
Best Pract Res Clin Endocrinol Metab
2020 Dec;34(6):101475.
Epub 2020 Dec 1
doi: 10.1016/j.beem.2020.101475.
PMID: 33419659
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
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
Cioppi F,
Rosta V,
Krausz C
Int J Mol Sci
2021 Mar 23;22(6)
doi: 10.3390/ijms22063264.
PMID: 33806855Free PMC Article
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
Raivio T,
Miettinen PJ
Best Pract Res Clin Endocrinol Metab
2019 Jun;33(3):101316.
Epub 2019 Sep 5
doi: 10.1016/j.beem.2019.101316.
PMID: 31522908
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
Patel B,
Koysombat K,
Mills EG,
Tsoutsouki J,
Comninos AN,
Abbara A,
Dhillo WS
Endocr Rev
2024 Jan 4;45(1):30-68.
doi: 10.1210/endrev/bnad023.
PMID: 37467734Free PMC Article
Naseem H,
Lokman M,
Fitzgerald C
Hum Fertil (Camb)
2023 Jul;26(3):622-631.
Epub 2021 Nov 9
doi: 10.1080/14647273.2021.1998929.
PMID: 34753367
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
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
Ulloa-Aguirre A,
Lira-Albarrán S
Prog Mol Biol Transl Sci
2016;143:121-174.
Epub 2016 Sep 13
doi: 10.1016/bs.pmbts.2016.08.003.
PMID: 27697201
Prognosis
Cangiano B,
Swee DS,
Quinton R,
Bonomi M
Hum Genet
2021 Jan;140(1):77-111.
Epub 2020 Mar 21
doi: 10.1007/s00439-020-02147-1.
PMID: 32200437
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
Dwyer AA,
Raivio T,
Pitteloud N
Eur J Endocrinol
2016 Jun;174(6):R267-74.
Epub 2016 Jan 20
doi: 10.1530/EJE-15-1033.
PMID: 26792935
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
Clinical prediction guides
Liu Y,
Zhi X
Reprod Sci
2022 Jun;29(6):1697-1709.
Epub 2021 Jul 6
doi: 10.1007/s43032-021-00638-8.
PMID: 34231173Free PMC Article
Cangiano B,
Swee DS,
Quinton R,
Bonomi M
Hum Genet
2021 Jan;140(1):77-111.
Epub 2020 Mar 21
doi: 10.1007/s00439-020-02147-1.
PMID: 32200437
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
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