Etiology
Arts P,
Garland J,
Byrne AB,
Hardy TSE,
Babic M,
Feng J,
Wang P,
Ha T,
King-Smith SL,
Schreiber AW,
Crawford A,
Manton N,
Moore L,
Barnett CP,
Scott HS
Am J Med Genet A
2020 May;182(5):1273-1277.
Epub 2020 Mar 6
doi: 10.1002/ajmg.a.61541.
PMID: 32141698Free PMC Article
Gui B,
Song Y,
Su Z,
Luo FH,
Chen L,
Wang X,
Chen R,
Yang Y,
Wang J,
Zhao X,
Fan L,
Liu X,
Wang Y,
Chen S,
Gong C
J Med Genet
2019 Oct;56(10):685-692.
Epub 2019 Jun 11
doi: 10.1136/jmedgenet-2018-105915.
PMID: 31186340
Chan AO,
But WM,
Lee CY,
Lam YY,
Ng KL,
Loung PY,
Lam A,
Cheng CW,
Shek CC,
Wong WS,
Wong KF,
Wong MY,
Tse WY
Hong Kong Med J
2015 Dec;21(6):499-510.
Epub 2015 Oct 16
doi: 10.12809/hkmj144402.
PMID: 26492835
Ismail SI,
Mazen IA
Sex Dev
2010 Sep;4(4-5):285-91.
Epub 2010 Jul 24
doi: 10.1159/000317120.
PMID: 20664246
Michel-Calemard L,
Lesca G,
Morel Y,
Boggio D,
Plauchu H,
Attia-Sobol J
Prenat Diagn
2004 Jul;24(7):519-23.
doi: 10.1002/pd.935.
PMID: 15300742
Diagnosis
Croft B,
Bird AD,
Ono M,
Eggers S,
Bagheri-Fam S,
Ryan JM,
Reyes AP,
van den Bergen J,
Baxendale A,
Thompson EM,
Kueh AJ,
Stanton P,
Thomas T,
Sinclair AH,
Harley VR
Clin Genet
2023 Mar;103(3):277-287.
Epub 2022 Nov 28
doi: 10.1111/cge.14261.
PMID: 36349847Free PMC Article
Gui B,
Song Y,
Su Z,
Luo FH,
Chen L,
Wang X,
Chen R,
Yang Y,
Wang J,
Zhao X,
Fan L,
Liu X,
Wang Y,
Chen S,
Gong C
J Med Genet
2019 Oct;56(10):685-692.
Epub 2019 Jun 11
doi: 10.1136/jmedgenet-2018-105915.
PMID: 31186340
Saranya B,
Bhavani G,
Arumugam B,
Jayashankar M,
Santhiya ST
J Genet
2016 Dec;95(4):911-921.
doi: 10.1007/s12041-016-0716-0.
PMID: 27994190
Berra M,
Williams EL,
Muroni B,
Creighton SM,
Honour JW,
Rumsby G,
Conway GS
Eur J Endocrinol
2011 Jun;164(6):1019-25.
Epub 2011 Mar 14
doi: 10.1530/EJE-10-0930.
PMID: 21402750
Galani A,
Sofocleous C,
Karahaliou F,
Papathanasiou A,
Kitsiou-Tzeli S,
Kalpini-Mavrou A
Fertil Steril
2008 Nov;90(5):2008.e1-4.
Epub 2008 Mar 14
doi: 10.1016/j.fertnstert.2008.01.030.
PMID: 18342859
Therapy
Birnbacher R,
Marberger M,
Weissenbacher G,
Schober E,
Frisch H
J Pediatr Endocrinol Metab
1999 Sep-Oct;12(5):687-90.
doi: 10.1515/jpem.1999.12.5.687.
PMID: 10703543
Kim MR,
Qazi QH,
Anderson VM,
Valencia GB
Am J Obstet Gynecol
1995 Mar;172(3):1042-3.
doi: 10.1016/0002-9378(95)90042-x.
PMID: 7892846
Prognosis
Kırkgöz T,
Gürsoy S,
Acar S,
Köprülü Ö,
Özkaya B,
Arslan G,
Nalbantoğlu Ö,
Hazan F,
Özkan B
J Pediatr Endocrinol Metab
2024 Jun 25;37(6):575-579.
Epub 2024 Apr 23
doi: 10.1515/jpem-2023-0551.
PMID: 38650427
Ambulkar PS,
Waghmare JE,
Verma Shivkumar P,
Narang P,
Pal AK
Andrologia
2021 Jun;53(5):e14011.
Epub 2021 Feb 11
doi: 10.1111/and.14011.
PMID: 33570214
Känsäkoski J,
Jääskeläinen J,
Jääskeläinen T,
Tommiska J,
Saarinen L,
Lehtonen R,
Hautaniemi S,
Frilander MJ,
Palvimo JJ,
Toppari J,
Raivio T
Sci Rep
2016 Sep 9;6:32819.
doi: 10.1038/srep32819.
PMID: 27609317Free PMC Article
Clinical prediction guides
Ambulkar PS,
Waghmare JE,
Verma Shivkumar P,
Narang P,
Pal AK
Andrologia
2021 Jun;53(5):e14011.
Epub 2021 Feb 11
doi: 10.1111/and.14011.
PMID: 33570214
Wang N,
Zhu W,
Han B,
Wang H,
Zhu H,
Chen Y,
Chen Y,
Liu J,
Liu Y,
Zhao S,
Song H,
Qiao J
J Clin Endocrinol Metab
2020 May 1;105(5)
doi: 10.1210/clinem/dgaa109.
PMID: 32140723
Saranya B,
Bhavani G,
Arumugam B,
Jayashankar M,
Santhiya ST
J Genet
2016 Dec;95(4):911-921.
doi: 10.1007/s12041-016-0716-0.
PMID: 27994190
Joshi R,
Das D,
Tamhankar P,
Shaikh S
Indian Pediatr
2014 May;51(5):399-400.
PMID: 24953586
Rajender S,
Thangaraj K,
Gupta NJ,
Leelavathy N,
Rani DS,
Nambiar RG,
Kalavathy V,
Santhiya ST,
Rajangam S,
Gopinath PM,
Chakravarty B,
Singh L
J Clin Endocrinol Metab
2006 Oct;91(10):4028-36.
Epub 2006 Jul 25
doi: 10.1210/jc.2006-0950.
PMID: 16868052