Etiology
Petersenn S,
Fleseriu M,
Casanueva FF,
Giustina A,
Biermasz N,
Biller BMK,
Bronstein M,
Chanson P,
Fukuoka H,
Gadelha M,
Greenman Y,
Gurnell M,
Ho KKY,
Honegger J,
Ioachimescu AG,
Kaiser UB,
Karavitaki N,
Katznelson L,
Lodish M,
Maiter D,
Marcus HJ,
McCormack A,
Molitch M,
Muir CA,
Neggers S,
Pereira AM,
Pivonello R,
Post K,
Raverot G,
Salvatori R,
Samson SL,
Shimon I,
Spencer-Segal J,
Vila G,
Wass J,
Melmed S
Nat Rev Endocrinol
2023 Dec;19(12):722-740.
Epub 2023 Sep 5
doi: 10.1038/s41574-023-00886-5.
PMID: 37670148
Claahsen-van der Grinten HL,
Speiser PW,
Ahmed SF,
Arlt W,
Auchus RJ,
Falhammar H,
Flück CE,
Guasti L,
Huebner A,
Kortmann BBM,
Krone N,
Merke DP,
Miller WL,
Nordenström A,
Reisch N,
Sandberg DE,
Stikkelbroeck NMML,
Touraine P,
Utari A,
Wudy SA,
White PC
Endocr Rev
2022 Jan 12;43(1):91-159.
doi: 10.1210/endrev/bnab016.
PMID: 33961029Free PMC Article
Birnkrant DJ,
Bushby K,
Bann CM,
Apkon SD,
Blackwell A,
Brumbaugh D,
Case LE,
Clemens PR,
Hadjiyannakis S,
Pandya S,
Street N,
Tomezsko J,
Wagner KR,
Ward LM,
Weber DR;
DMD Care Considerations Working Group
Lancet Neurol
2018 Mar;17(3):251-267.
Epub 2018 Feb 3
doi: 10.1016/S1474-4422(18)30024-3.
PMID: 29395989Free PMC Article
Gravholt CH,
Andersen NH,
Conway GS,
Dekkers OM,
Geffner ME,
Klein KO,
Lin AE,
Mauras N,
Quigley CA,
Rubin K,
Sandberg DE,
Sas TCJ,
Silberbach M,
Söderström-Anttila V,
Stochholm K,
van Alfen-van derVelden JA,
Woelfle J,
Backeljauw PF;
International Turner Syndrome Consensus Group
Eur J Endocrinol
2017 Sep;177(3):G1-G70.
doi: 10.1530/EJE-17-0430.
PMID: 28705803
Galanello R,
Origa R
Orphanet J Rare Dis
2010 May 21;5:11.
doi: 10.1186/1750-1172-5-11.
PMID: 20492708Free PMC Article
Diagnosis
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
Mantovani G,
Bastepe M,
Monk D,
de Sanctis L,
Thiele S,
Usardi A,
Ahmed SF,
Bufo R,
Choplin T,
De Filippo G,
Devernois G,
Eggermann T,
Elli FM,
Freson K,
García Ramirez A,
Germain-Lee EL,
Groussin L,
Hamdy N,
Hanna P,
Hiort O,
Jüppner H,
Kamenický P,
Knight N,
Kottler ML,
Le Norcy E,
Lecumberri B,
Levine MA,
Mäkitie O,
Martin R,
Martos-Moreno GÁ,
Minagawa M,
Murray P,
Pereda A,
Pignolo R,
Rejnmark L,
Rodado R,
Rothenbuhler A,
Saraff V,
Shoemaker AH,
Shore EM,
Silve C,
Turan S,
Woods P,
Zillikens MC,
Perez de Nanclares G,
Linglart A
Nat Rev Endocrinol
2018 Aug;14(8):476-500.
doi: 10.1038/s41574-018-0042-0.
PMID: 29959430Free PMC Article
Birnkrant DJ,
Bushby K,
Bann CM,
Apkon SD,
Blackwell A,
Brumbaugh D,
Case LE,
Clemens PR,
Hadjiyannakis S,
Pandya S,
Street N,
Tomezsko J,
Wagner KR,
Ward LM,
Weber DR;
DMD Care Considerations Working Group
Lancet Neurol
2018 Mar;17(3):251-267.
Epub 2018 Feb 3
doi: 10.1016/S1474-4422(18)30024-3.
PMID: 29395989Free PMC Article
Gravholt CH,
Andersen NH,
Conway GS,
Dekkers OM,
Geffner ME,
Klein KO,
Lin AE,
Mauras N,
Quigley CA,
Rubin K,
Sandberg DE,
Sas TCJ,
Silberbach M,
Söderström-Anttila V,
Stochholm K,
van Alfen-van derVelden JA,
Woelfle J,
Backeljauw PF;
International Turner Syndrome Consensus Group
Eur J Endocrinol
2017 Sep;177(3):G1-G70.
doi: 10.1530/EJE-17-0430.
PMID: 28705803
Galanello R,
Origa R
Orphanet J Rare Dis
2010 May 21;5:11.
doi: 10.1186/1750-1172-5-11.
PMID: 20492708Free PMC Article
Therapy
Petersenn S,
Fleseriu M,
Casanueva FF,
Giustina A,
Biermasz N,
Biller BMK,
Bronstein M,
Chanson P,
Fukuoka H,
Gadelha M,
Greenman Y,
Gurnell M,
Ho KKY,
Honegger J,
Ioachimescu AG,
Kaiser UB,
Karavitaki N,
Katznelson L,
Lodish M,
Maiter D,
Marcus HJ,
McCormack A,
Molitch M,
Muir CA,
Neggers S,
Pereira AM,
Pivonello R,
Post K,
Raverot G,
Salvatori R,
Samson SL,
Shimon I,
Spencer-Segal J,
Vila G,
Wass J,
Melmed S
Nat Rev Endocrinol
2023 Dec;19(12):722-740.
Epub 2023 Sep 5
doi: 10.1038/s41574-023-00886-5.
PMID: 37670148
Merke DP,
Mallappa A,
Arlt W,
Brac de la Perriere A,
Lindén Hirschberg A,
Juul A,
Newell-Price J,
Perry CG,
Prete A,
Rees DA,
Reisch N,
Stikkelbroeck N,
Touraine P,
Maltby K,
Treasure FP,
Porter J,
Ross RJ
J Clin Endocrinol Metab
2021 Apr 23;106(5):e2063-e2077.
doi: 10.1210/clinem/dgab051.
PMID: 33527139Free 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
Colao A,
Grasso LFS,
Giustina A,
Melmed S,
Chanson P,
Pereira AM,
Pivonello R
Nat Rev Dis Primers
2019 Mar 21;5(1):20.
doi: 10.1038/s41572-019-0071-6.
PMID: 30899019
Kenkre JS,
Bassett J
Ann Clin Biochem
2018 May;55(3):308-327.
Epub 2018 Mar 4
doi: 10.1177/0004563218759371.
PMID: 29368538
Prognosis
Merke DP,
Mallappa A,
Arlt W,
Brac de la Perriere A,
Lindén Hirschberg A,
Juul A,
Newell-Price J,
Perry CG,
Prete A,
Rees DA,
Reisch N,
Stikkelbroeck N,
Touraine P,
Maltby K,
Treasure FP,
Porter J,
Ross RJ
J Clin Endocrinol Metab
2021 Apr 23;106(5):e2063-e2077.
doi: 10.1210/clinem/dgab051.
PMID: 33527139Free PMC Article
Colao A,
Grasso LFS,
Giustina A,
Melmed S,
Chanson P,
Pereira AM,
Pivonello R
Nat Rev Dis Primers
2019 Mar 21;5(1):20.
doi: 10.1038/s41572-019-0071-6.
PMID: 30899019
Mantovani G,
Bastepe M,
Monk D,
de Sanctis L,
Thiele S,
Usardi A,
Ahmed SF,
Bufo R,
Choplin T,
De Filippo G,
Devernois G,
Eggermann T,
Elli FM,
Freson K,
García Ramirez A,
Germain-Lee EL,
Groussin L,
Hamdy N,
Hanna P,
Hiort O,
Jüppner H,
Kamenický P,
Knight N,
Kottler ML,
Le Norcy E,
Lecumberri B,
Levine MA,
Mäkitie O,
Martin R,
Martos-Moreno GÁ,
Minagawa M,
Murray P,
Pereda A,
Pignolo R,
Rejnmark L,
Rodado R,
Rothenbuhler A,
Saraff V,
Shoemaker AH,
Shore EM,
Silve C,
Turan S,
Woods P,
Zillikens MC,
Perez de Nanclares G,
Linglart A
Nat Rev Endocrinol
2018 Aug;14(8):476-500.
doi: 10.1038/s41574-018-0042-0.
PMID: 29959430Free PMC Article
Chanson P,
Salenave S,
Kamenicky P
Handb Clin Neurol
2014;124:197-219.
doi: 10.1016/B978-0-444-59602-4.00014-9.
PMID: 25248589
Galanello R,
Origa R
Orphanet J Rare Dis
2010 May 21;5:11.
doi: 10.1186/1750-1172-5-11.
PMID: 20492708Free PMC Article
Clinical prediction guides
Fiot E,
Alauze B,
Donadille B,
Samara-Boustani D,
Houang M,
De Filippo G,
Bachelot A,
Delcour C,
Beyler C,
Bois E,
Bourrat E,
Bui Quoc E,
Bourcigaux N,
Chaussain C,
Cohen A,
Cohen-Solal M,
Da Costa S,
Dossier C,
Ederhy S,
Elmaleh M,
Iserin L,
Lengliné H,
Poujol-Robert A,
Roulot D,
Viala J,
Albarel F,
Bismuth E,
Bernard V,
Bouvattier C,
Brac A,
Bretones P,
Chabbert-Buffet N,
Chanson P,
Coutant R,
de Warren M,
Demaret B,
Duranteau L,
Eustache F,
Gautheret L,
Gelwane G,
Gourbesville C,
Grynberg M,
Gueniche K,
Jorgensen C,
Kerlan V,
Lebrun C,
Lefevre C,
Lorenzini F,
Manouvrier S,
Pienkowski C,
Reynaud R,
Reznik Y,
Siffroi JP,
Tabet AC,
Tauber M,
Vautier V,
Tauveron I,
Wambre S,
Zenaty D,
Netchine I,
Polak M,
Touraine P,
Carel JC,
Christin-Maitre S,
Léger J
Orphanet J Rare Dis
2022 Jul 12;17(Suppl 1):261.
doi: 10.1186/s13023-022-02423-5.
PMID: 35821070Free PMC Article
Tauber M,
Hoybye C
Lancet Diabetes Endocrinol
2021 Apr;9(4):235-246.
Epub 2021 Feb 26
doi: 10.1016/S2213-8587(21)00002-4.
PMID: 33647242
Merke DP,
Mallappa A,
Arlt W,
Brac de la Perriere A,
Lindén Hirschberg A,
Juul A,
Newell-Price J,
Perry CG,
Prete A,
Rees DA,
Reisch N,
Stikkelbroeck N,
Touraine P,
Maltby K,
Treasure FP,
Porter J,
Ross RJ
J Clin Endocrinol Metab
2021 Apr 23;106(5):e2063-e2077.
doi: 10.1210/clinem/dgab051.
PMID: 33527139Free PMC Article
Christov M,
Jüppner H
Best Pract Res Clin Endocrinol Metab
2018 Oct;32(5):685-706.
Epub 2018 Jun 18
doi: 10.1016/j.beem.2018.06.004.
PMID: 30449549
Hall JE,
Granger JP,
do Carmo JM,
da Silva AA,
Dubinion J,
George E,
Hamza S,
Speed J,
Hall ME
Compr Physiol
2012 Oct;2(4):2393-442.
doi: 10.1002/cphy.c110058.
PMID: 23720252