148 related articles for article (PubMed ID: 23375913)
1. Novel mutation among two sisters with 17β hydroxysteroid dehydrogenase type 3 deficiency.
Massanyi EZ; Gearhart JP; Kolp LA; Migeon CJ
Urology; 2013 May; 81(5):1069-71. PubMed ID: 23375913
[TBL] [Abstract][Full Text] [Related]
2. Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls.
Lee YS; Kirk JM; Stanhope RG; Johnston DI; Harland S; Auchus RJ; Andersson S; Hughes IA
Clin Endocrinol (Oxf); 2007 Jul; 67(1):20-8. PubMed ID: 17466011
[TBL] [Abstract][Full Text] [Related]
3. 46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.
Mendonca BB; Gomes NL; Costa EM; Inacio M; Martin RM; Nishi MY; Carvalho FM; Tibor FD; Domenice S
J Steroid Biochem Mol Biol; 2017 Jan; 165(Pt A):79-85. PubMed ID: 27163392
[TBL] [Abstract][Full Text] [Related]
4. A novel missense mutation in HSD17B3 gene in a 46, XY adolescent presenting with primary amenorrhea and virilization at puberty.
Tuhan HU; Anik A; Catli G; Ceylaner S; Dundar B; Bober E; Abaci A
Clin Chim Acta; 2015 Jan; 438():154-6. PubMed ID: 25064799
[TBL] [Abstract][Full Text] [Related]
5. Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development.
Phelan N; Williams EL; Cardamone S; Lee M; Creighton SM; Rumsby G; Conway GS
Eur J Endocrinol; 2015 Jun; 172(6):745-51. PubMed ID: 25740850
[TBL] [Abstract][Full Text] [Related]
6. [Severe 46,XY virilization deficit due to 17beta-hydroxysteroid dehydrogenase deficiency].
Twesten W; Johannisson R; Holterhus PM; Hiort O
Klin Padiatr; 2002; 214(5):314-5. PubMed ID: 12235550
[TBL] [Abstract][Full Text] [Related]
7. 17beta-hydroxysteroid dehydrogenase-3 deficiency: a rare endocrine cause of male-to-female sex reversal.
Bertelloni S; Maggio MC; Federico G; Baroncelli G; Hiort O
Gynecol Endocrinol; 2006 Sep; 22(9):488-94. PubMed ID: 17071532
[TBL] [Abstract][Full Text] [Related]
8. Prepubertal and pubertal gonadal morphology, expression of cell lineage markers and hormonal evaluation in two 46,XY siblings with 17β-hydroxysteroid dehydrogenase 3 deficiency.
von Spreckelsen B; Aksglaede L; Johannsen TH; Nielsen JE; Main KM; Jørgensen A; Jensen RB
J Pediatr Endocrinol Metab; 2022 Jul; 35(7):953-961. PubMed ID: 35411763
[TBL] [Abstract][Full Text] [Related]
9. Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect.
Ben Rhouma B; Kallabi F; Mahfoudh N; Ben Mahmoud A; Engeli RT; Kamoun H; Keskes L; Odermatt A; Belguith N
J Steroid Biochem Mol Biol; 2017 Jan; 165(Pt A):86-94. PubMed ID: 26956191
[TBL] [Abstract][Full Text] [Related]
10. 17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite.
Mains LM; Vakili B; Lacassie Y; Andersson S; Lindqvist A; Rock JA
Fertil Steril; 2008 Jan; 89(1):228.e13-7. PubMed ID: 17509588
[TBL] [Abstract][Full Text] [Related]
11. 17β-hydroxysteroid dehydrogenase type 3 deficiency: female sex assignment and follow-up.
Faienza MF; Baldinotti F; Marrocco G; TyuTyusheva N; Peroni D; Baroncelli GI; Bertelloni S
J Endocrinol Invest; 2020 Dec; 43(12):1711-1716. PubMed ID: 32297288
[TBL] [Abstract][Full Text] [Related]
12. 17-β-hydroxysteroid dehydrogenase type 3 deficiency in three adult Iranian siblings.
Omrani MD; Adamovic T; Grandell U; Saleh-Gargari S; Nordenskjöld A
Sex Dev; 2011; 5(6):273-6. PubMed ID: 22212252
[TBL] [Abstract][Full Text] [Related]
13. 17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations.
Boehmer AL; Brinkmann AO; Sandkuijl LA; Halley DJ; Niermeijer MF; Andersson S; de Jong FH; Kayserili H; de Vroede MA; Otten BJ; Rouwé CW; Mendonça BB; Rodrigues C; Bode HH; de Ruiter PE; Delemarre-van de Waal HA; Drop SL
J Clin Endocrinol Metab; 1999 Dec; 84(12):4713-21. PubMed ID: 10599740
[TBL] [Abstract][Full Text] [Related]
14. Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency.
Khattab A; Yuen T; Yau M; Domenice S; Frade Costa EM; Diya K; Muhuri D; Pina CE; Nishi MY; Yang AC; de Mendonça BB; New MI
J Pediatr Endocrinol Metab; 2015 May; 28(5-6):623-8. PubMed ID: 25536660
[TBL] [Abstract][Full Text] [Related]
15. Pubertal Development in
17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency
.
Hiort O; Marshall L; Birnbaum W; Wünsch L; Holterhus PM; Döhnert U; Werner R
Horm Res Paediatr; 2017; 87(5):354-358. PubMed ID: 27951541
[TBL] [Abstract][Full Text] [Related]
16. Duplication of exons 3-10 of the HSD17B3 gene: a novel type of genetic defect underlying 17β-HSD-3 deficiency.
Neocleous V; Sismani C; Shammas C; Efstathiou E; Alexandrou A; Ioannides M; Argyrou M; Patsalis PC; Phylactou LA; Skordis N
Gene; 2012 May; 499(2):250-5. PubMed ID: 22445608
[TBL] [Abstract][Full Text] [Related]
17. Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency.
Castro CC; Guaragna-Filho G; Calais FL; Coeli FB; Leal IR; Cavalcante-Junior EF; Monlleó IL; Pereira SR; Silva RB; Gabiatti JR; Marques-de-Faria AP; Maciel-Guerra AT; Mello MP; Guerra-Junior G
Arq Bras Endocrinol Metabol; 2012 Nov; 56(8):533-9. PubMed ID: 23295294
[TBL] [Abstract][Full Text] [Related]
18. A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.
Bilbao JR; Loridan L; Audí L; Gonzalo E; Castaño L
Eur J Endocrinol; 1998 Sep; 139(3):330-3. PubMed ID: 9758445
[TBL] [Abstract][Full Text] [Related]
19. Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development.
Engeli RT; Rhouma BB; Sager CP; Tsachaki M; Birk J; Fakhfakh F; Keskes L; Belguith N; Odermatt A
J Steroid Biochem Mol Biol; 2016 Jan; 155(Pt A):147-54. PubMed ID: 26545797
[TBL] [Abstract][Full Text] [Related]
20. Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients.
Engeli RT; Tsachaki M; Hassan HA; Sager CP; Essawi ML; Gad YZ; Kamel AK; Mazen I; Odermatt A
J Sex Med; 2017 Sep; 14(9):1165-1174. PubMed ID: 28859874
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
