Etiology
Bouhouche A,
Albaroudi N,
El Alaoui MA,
Askander O,
Habbadi Z,
El Hassani A,
Iraqi H,
El Fahime E,
Belmekki M
Exp Eye Res
2021 Aug;209:108671.
Epub 2021 Jun 13
doi: 10.1016/j.exer.2021.108671.
PMID: 34133966
Lourenço D,
Brauner R,
Rybczynska M,
Nihoul-Fékété C,
McElreavey K,
Bashamboo A
Proc Natl Acad Sci U S A
2011 Jan 25;108(4):1597-602.
Epub 2011 Jan 10
doi: 10.1073/pnas.1010257108.
PMID: 21220346Free PMC Article
Maciel-Guerra AT,
de Mello MP,
Coeli FB,
Ribeiro ML,
Miranda ML,
Marques-de-Faria AP,
Baptista MT,
Moraes SG,
Guerra-Júnior G
J Clin Endocrinol Metab
2008 Feb;93(2):339-43.
Epub 2007 Dec 4
doi: 10.1210/jc.2007-1115.
PMID: 18056774
Rosler A
Pediatr Endocrinol Rev
2006 Aug;3 Suppl 3:455-61.
PMID: 17551466
Diagnosis
Cheng D,
Lu CF,
Gong F,
Du J,
Yuan S,
Luo KL,
Tan YQ,
Lu GX,
Lin G
Hum Reprod
2024 Apr 3;39(4):849-855.
doi: 10.1093/humrep/deae026.
PMID: 38420683
Makiyan Z
Organogenesis
2016 Oct;12(4):169-182.
Epub 2016 Jul 8
doi: 10.1080/15476278.2016.1210749.
PMID: 27391116Free PMC Article
Dutta D,
Shivaprasad KS,
Das RN,
Ghosh S,
Chatterjee U,
Chowdhury S,
Dasgupta R
Andrologia
2014 Mar;46(2):191-3.
Epub 2012 Nov 19
doi: 10.1111/and.12048.
PMID: 23163819
Stuchi-Perez EG,
Lukas-Croisier C,
De Castro M,
Baptista MT,
Ribeiro Scolfaro M,
Marques-De-Faria AP,
Hackel C,
Maciel-Guerra AT,
Guerra Júnior G
J Pediatr Endocrinol Metab
2000 Jun;13(6):605-12.
doi: 10.1515/jpem.2000.13.6.605.
PMID: 10905384
Krob G,
Braun A,
Kuhnle U
Eur J Pediatr
1994 Jan;153(1):2-10.
doi: 10.1007/BF02000779.
PMID: 8313919
Therapy
Juul A,
Almstrup K,
Andersson AM,
Jensen TK,
Jørgensen N,
Main KM,
Rajpert-De Meyts E,
Toppari J,
Skakkebæk NE
Nat Rev Endocrinol
2014 Sep;10(9):553-62.
Epub 2014 Jun 17
doi: 10.1038/nrendo.2014.97.
PMID: 24935122
Prognosis
Bouhouche A,
Albaroudi N,
El Alaoui MA,
Askander O,
Habbadi Z,
El Hassani A,
Iraqi H,
El Fahime E,
Belmekki M
Exp Eye Res
2021 Aug;209:108671.
Epub 2021 Jun 13
doi: 10.1016/j.exer.2021.108671.
PMID: 34133966
Winge SB,
Dalgaard MD,
Belling KG,
Jensen JM,
Nielsen JE,
Aksglaede L,
Schierup MH,
Brunak S,
Skakkebæk NE,
Juul A,
Rajpert-De Meyts E,
Almstrup K
Cell Death Dis
2018 May 22;9(6):586.
doi: 10.1038/s41419-018-0671-1.
PMID: 29789566Free PMC Article
Lourenço D,
Brauner R,
Rybczynska M,
Nihoul-Fékété C,
McElreavey K,
Bashamboo A
Proc Natl Acad Sci U S A
2011 Jan 25;108(4):1597-602.
Epub 2011 Jan 10
doi: 10.1073/pnas.1010257108.
PMID: 21220346Free PMC Article
Fernández-Cancio M,
Nistal M,
Gracia R,
Molina MA,
Tovar JA,
Esteban C,
Carrascosa A,
Audí L
J Androl
2004 May-Jun;25(3):412-6.
doi: 10.1002/j.1939-4640.2004.tb02808.x.
PMID: 15064320
Clinical prediction guides
Livermore C,
Simon M,
Reeves R,
Stévant I,
Nef S,
Pope M,
Mallon AM,
Wells S,
Warr N,
Greenfield A
Genetics
2020 Feb;214(2):467-477.
Epub 2019 Dec 13
doi: 10.1534/genetics.119.302786.
PMID: 31836612Free PMC Article
Winge SB,
Dalgaard MD,
Belling KG,
Jensen JM,
Nielsen JE,
Aksglaede L,
Schierup MH,
Brunak S,
Skakkebæk NE,
Juul A,
Rajpert-De Meyts E,
Almstrup K
Cell Death Dis
2018 May 22;9(6):586.
doi: 10.1038/s41419-018-0671-1.
PMID: 29789566Free PMC Article
van Bever Y,
Wolffenbuttel KP,
Brüggenwirth HT,
Blom E,
de Klein A,
Eussen BHJ,
van der Windt F,
Hannema SE,
Dessens AB,
Dorssers LCJ,
Biermann K,
Hersmus R,
de Rijke YB,
Looijenga LHJ
Sex Dev
2018;12(1-3):145-154.
Epub 2017 Sep 20
doi: 10.1159/000479946.
PMID: 28926831Free PMC Article
Juul A,
Almstrup K,
Andersson AM,
Jensen TK,
Jørgensen N,
Main KM,
Rajpert-De Meyts E,
Toppari J,
Skakkebæk NE
Nat Rev Endocrinol
2014 Sep;10(9):553-62.
Epub 2014 Jun 17
doi: 10.1038/nrendo.2014.97.
PMID: 24935122
Shammas C,
Neocleous V,
Toumba M,
Costi C,
Phedonos AA,
Efstathiou E,
Kyriakou A,
Phylactou LA,
Skordis N
Genet Test Mol Biomarkers
2012 Sep;16(9):1073-9.
Epub 2012 Aug 2
doi: 10.1089/gtmb.2011.0381.
PMID: 22857144