Etiology
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
Eggers S,
Sadedin S,
van den Bergen JA,
Robevska G,
Ohnesorg T,
Hewitt J,
Lambeth L,
Bouty A,
Knarston IM,
Tan TY,
Cameron F,
Werther G,
Hutson J,
O'Connell M,
Grover SR,
Heloury Y,
Zacharin M,
Bergman P,
Kimber C,
Brown J,
Webb N,
Hunter MF,
Srinivasan S,
Titmuss A,
Verge CF,
Mowat D,
Smith G,
Smith J,
Ewans L,
Shalhoub C,
Crock P,
Cowell C,
Leong GM,
Ono M,
Lafferty AR,
Huynh T,
Visser U,
Choong CS,
McKenzie F,
Pachter N,
Thompson EM,
Couper J,
Baxendale A,
Gecz J,
Wheeler BJ,
Jefferies C,
MacKenzie K,
Hofman P,
Carter P,
King RI,
Krausz C,
van Ravenswaaij-Arts CM,
Looijenga L,
Drop S,
Riedl S,
Cools M,
Dawson A,
Juniarto AZ,
Khadilkar V,
Khadilkar A,
Bhatia V,
Dũng VC,
Atta I,
Raza J,
Thi Diem Chi N,
Hao TK,
Harley V,
Koopman P,
Warne G,
Faradz S,
Oshlack A,
Ayers KL,
Sinclair AH
Genome Biol
2016 Nov 29;17(1):243.
doi: 10.1186/s13059-016-1105-y.
PMID: 27899157Free PMC Article
Rodriguez-Buritica D
Curr Opin Pediatr
2015 Dec;27(6):675-84.
doi: 10.1097/MOP.0000000000000275.
PMID: 26335769
King TF,
Conway GS
Curr Opin Endocrinol Diabetes Obes
2014 Dec;21(6):504-10.
doi: 10.1097/MED.0000000000000113.
PMID: 25314337
Zenteno-Ruiz JC,
Kofman-Alfaro S,
Méndez JP
Arch Med Res
2001 Nov-Dec;32(6):559-66.
doi: 10.1016/s0188-4409(01)00322-8.
PMID: 11750731
Diagnosis
Reyes AP,
León NY,
Frost ER,
Harley VR
Nat Rev Urol
2023 Jul;20(7):434-451.
Epub 2023 Apr 5
doi: 10.1038/s41585-023-00754-x.
PMID: 37020056
McElreavey K,
Bashamboo A
Horm Res Paediatr
2023;96(2):144-168.
Epub 2021 Dec 28
doi: 10.1159/000521381.
PMID: 34963118
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
Eggers S,
Sadedin S,
van den Bergen JA,
Robevska G,
Ohnesorg T,
Hewitt J,
Lambeth L,
Bouty A,
Knarston IM,
Tan TY,
Cameron F,
Werther G,
Hutson J,
O'Connell M,
Grover SR,
Heloury Y,
Zacharin M,
Bergman P,
Kimber C,
Brown J,
Webb N,
Hunter MF,
Srinivasan S,
Titmuss A,
Verge CF,
Mowat D,
Smith G,
Smith J,
Ewans L,
Shalhoub C,
Crock P,
Cowell C,
Leong GM,
Ono M,
Lafferty AR,
Huynh T,
Visser U,
Choong CS,
McKenzie F,
Pachter N,
Thompson EM,
Couper J,
Baxendale A,
Gecz J,
Wheeler BJ,
Jefferies C,
MacKenzie K,
Hofman P,
Carter P,
King RI,
Krausz C,
van Ravenswaaij-Arts CM,
Looijenga L,
Drop S,
Riedl S,
Cools M,
Dawson A,
Juniarto AZ,
Khadilkar V,
Khadilkar A,
Bhatia V,
Dũng VC,
Atta I,
Raza J,
Thi Diem Chi N,
Hao TK,
Harley V,
Koopman P,
Warne G,
Faradz S,
Oshlack A,
Ayers KL,
Sinclair AH
Genome Biol
2016 Nov 29;17(1):243.
doi: 10.1186/s13059-016-1105-y.
PMID: 27899157Free PMC Article
King TF,
Conway GS
Curr Opin Endocrinol Diabetes Obes
2014 Dec;21(6):504-10.
doi: 10.1097/MED.0000000000000113.
PMID: 25314337
Therapy
García-Acero M,
Moreno-Niño O,
Suárez-Obando F,
Molina M,
Manotas MC,
Prieto JC,
Forero C,
Céspedes C,
Pérez J,
Fernandez N,
Rojas A
Mol Med Rep
2020 Jan;21(1):97-106.
Epub 2019 Nov 12
doi: 10.3892/mmr.2019.10819.
PMID: 31746433Free PMC Article
AlSiraj Y,
Chen X,
Thatcher SE,
Temel RE,
Cai L,
Blalock E,
Katz W,
Ali HM,
Petriello M,
Deng P,
Morris AJ,
Wang X,
Lusis AJ,
Arnold AP,
Reue K,
Thompson K,
Tso P,
Cassis LA
Nat Commun
2019 Jun 14;10(1):2631.
doi: 10.1038/s41467-019-10462-z.
PMID: 31201301Free PMC Article
King TF,
Conway GS
Curr Opin Endocrinol Diabetes Obes
2014 Dec;21(6):504-10.
doi: 10.1097/MED.0000000000000113.
PMID: 25314337
Hiort O
Ann Endocrinol (Paris)
2014 May;75(2):64-6.
Epub 2014 Apr 17
doi: 10.1016/j.ando.2014.03.008.
PMID: 24746403
Parada-Bustamante A,
Ríos R,
Ebensperger M,
Lardone MC,
Piottante A,
Castro A
Fertil Steril
2010 Nov;94(6):2330.e13-6.
Epub 2010 May 7
doi: 10.1016/j.fertnstert.2010.03.066.
PMID: 20451191
Prognosis
Hagen CP,
Fischer MB,
Mola G,
Mikkelsen TB,
Cleemann LH,
Gravholt CH,
Viuff MH,
Juul A,
Pedersen AT,
Main KM
Front Endocrinol (Lausanne)
2023;14:1173600.
Epub 2023 Jun 29
doi: 10.3389/fendo.2023.1173600.
PMID: 37455919Free PMC Article
Miyado M,
Fukami M,
Ogata T
Sex Dev
2022;16(2-3):126-137.
Epub 2021 Oct 25
doi: 10.1159/000519298.
PMID: 34695834
Wong YS,
Tam YH,
Pang KKY,
Yau HC
J Pediatr Surg
2018 Dec;53(12):2498-2501.
Epub 2018 Sep 1
doi: 10.1016/j.jpedsurg.2018.08.010.
PMID: 30224237
King TF,
Conway GS
Curr Opin Endocrinol Diabetes Obes
2014 Dec;21(6):504-10.
doi: 10.1097/MED.0000000000000113.
PMID: 25314337
Hiort O
Ann Endocrinol (Paris)
2014 May;75(2):64-6.
Epub 2014 Apr 17
doi: 10.1016/j.ando.2014.03.008.
PMID: 24746403
Clinical prediction guides
Hiort M,
Rohayem J,
Knaf R,
Laurentino S,
Berglund A,
Gravholt CH,
Gromoll J,
Wistuba J
Sex Dev
2023;17(1):32-42.
Epub 2023 Feb 6
doi: 10.1159/000528955.
PMID: 36746123
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
Miyado M,
Fukami M,
Ogata T
Sex Dev
2022;16(2-3):126-137.
Epub 2021 Oct 25
doi: 10.1159/000519298.
PMID: 34695834
Eggers S,
Sadedin S,
van den Bergen JA,
Robevska G,
Ohnesorg T,
Hewitt J,
Lambeth L,
Bouty A,
Knarston IM,
Tan TY,
Cameron F,
Werther G,
Hutson J,
O'Connell M,
Grover SR,
Heloury Y,
Zacharin M,
Bergman P,
Kimber C,
Brown J,
Webb N,
Hunter MF,
Srinivasan S,
Titmuss A,
Verge CF,
Mowat D,
Smith G,
Smith J,
Ewans L,
Shalhoub C,
Crock P,
Cowell C,
Leong GM,
Ono M,
Lafferty AR,
Huynh T,
Visser U,
Choong CS,
McKenzie F,
Pachter N,
Thompson EM,
Couper J,
Baxendale A,
Gecz J,
Wheeler BJ,
Jefferies C,
MacKenzie K,
Hofman P,
Carter P,
King RI,
Krausz C,
van Ravenswaaij-Arts CM,
Looijenga L,
Drop S,
Riedl S,
Cools M,
Dawson A,
Juniarto AZ,
Khadilkar V,
Khadilkar A,
Bhatia V,
Dũng VC,
Atta I,
Raza J,
Thi Diem Chi N,
Hao TK,
Harley V,
Koopman P,
Warne G,
Faradz S,
Oshlack A,
Ayers KL,
Sinclair AH
Genome Biol
2016 Nov 29;17(1):243.
doi: 10.1186/s13059-016-1105-y.
PMID: 27899157Free PMC Article
Zenteno-Ruiz JC,
Kofman-Alfaro S,
Méndez JP
Arch Med Res
2001 Nov-Dec;32(6):559-66.
doi: 10.1016/s0188-4409(01)00322-8.
PMID: 11750731