137 related articles for article (PubMed ID: 22578489)
1. 46,XY karyotype in a female phenotype fetus: a challenging diagnosis.
Russo G; di Lascio A; Ferrario M; Meroni S; Hiort O; Chiumello G
J Pediatr Adolesc Gynecol; 2012 Jun; 25(3):e77-9. PubMed ID: 22578489
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. [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]
5. Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene.
Alikaşifoğlu A; Vurallı D; Hiort O; Gönç N; Özön A; Kandemir N
J Clin Res Pediatr Endocrinol; 2015 Sep; 7(3):249-52. PubMed ID: 26831562
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. A novel nonsense mutation in HSD17B3 gene in a Tunisian patient with sexual ambiguity.
Ben Rhouma B; Belguith N; Mnif MF; Kamoun T; Charfi N; Kamoun M; Abdelhedi F; Hachicha M; Kamoun H; Abid M; Fakhfakh F
J Sex Med; 2013 Oct; 10(10):2586-9. PubMed ID: 22594312
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Isolated mild clitoral hypertrophy may reveal 46,XY disorders of sex development in infancy due to 17βHSD-3 defect confirmed by molecular analysis.
George MM; Sinha S; Mamkin I; Philibert P; New MI; Wilson RC; Sultan C; Ten S; Bhangoo A
Gynecol Endocrinol; 2011 Nov; 27(11):890-4. PubMed ID: 21214500
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin.
Galli-Tsinopoulou A; Serbis A; Kotanidou EP; Litou E; Dokousli V; Mouzaki K; Fanis P; Neocleous V; Skordis N
J Clin Res Pediatr Endocrinol; 2018 Mar; 10(1):74-78. PubMed ID: 28739554
[TBL] [Abstract][Full Text] [Related]
12. [Prenatal diagnosis in a familial form of male pseudohermaphroditism due to 17-keto reductase deficiency].
Nivelon JL; Forest MG; Nivelon-Chevallier A; Turc C; Dauvergne M; Tenenbaum D
J Genet Hum; 1985 Jun; 33(2):179-86. PubMed ID: 3860627
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. A study of gender outcome of Egyptian patients with 46,XY disorder of sex development.
Ismail SI; Mazen IA
Sex Dev; 2010 Sep; 4(4-5):285-91. PubMed ID: 20664246
[TBL] [Abstract][Full Text] [Related]
16. Two different patterns of mini-puberty in two 46,XY newborns with 17β-hydroxysteroid dehydrogenase type 3 deficiency.
Demir K; Yıldız M; Elmas ÖN; Korkmaz HA; Tunç S; Olukman Ö; Hazan F; Özkan KU; Özkan B
J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):961-5. PubMed ID: 25879310
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. [Causes of ambiguous external genitalia in neonates].
Zdravković D; Milenković T; Sedlecki K; Guć-Sćekić M; Rajić V; Banićević M
Srp Arh Celok Lek; 2001; 129(3-4):57-60. PubMed ID: 11534268
[TBL] [Abstract][Full Text] [Related]
19. 46,XY Sex Development Defect due to a Novel Homozygous (Splice Site) c.673_1G>C Variation in the
Çiftci N; Kayaş L; Çamtosun E; Akıncı A
J Clin Res Pediatr Endocrinol; 2022 Jun; 14(2):233-238. PubMed ID: 33389920
[TBL] [Abstract][Full Text] [Related]
20. In vivo and in vitro studies in a 46, XY phenotypically female infant with 17-ketosteroid reductase deficiency.
Wit JM; van Hooff CO; Thijssen JH; Van den Brande JL
Horm Metab Res; 1988 Jun; 20(6):367-74. PubMed ID: 2971011
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
