Ten cases with 46, XX testicular disorder of sex development: single center experience
Int. braz. j. urol
;
43(4): 770-775, July-Aug. 2017. tab, graf
Artigo
em Inglês
| LILACS
| ID: biblio-892858
ABSTRACT
ABSTRACT Objective To present clinical, chromosomal and hormonal features of ten cases with SRY-positive 46,XX testicular disorder of sex development who were admitted to our infertility clinic. Cases and Methods Records of the cases who were admitted to our infertility clinic between 2004 and 2015 were investigated. Ten 46,XX testicular disorder of sex development cases were detected. Clinical, hormonal and chromosomal assessments were analized. Results Mean age at diagnosis was 30.4, mean body height was 166.9cm. Hormonal data indicated that the patients had a higher FSH, LH levels, lower TT level and normal E2, PRL levels. Karyotype analysis of all patients confirmed 46,XX karyotype, and FISH analysis showed that SRY gene was positive and translocated to Xp. The AZFa, AZFb and AZFc regions were absent in 8 cases. In one case AZFb and AZFc incomplete deletion and normal AZFa region was present. In the other one all AZF regions were present. Conclusion Gonadal development disorders such as SRY-positive 46,XX testicular disorder of sex development can be diagnosed in infertility clinics during infertility work-up. Although these cases had no chance of bearing a child, they should be protected from negative effects of testosterone deficiency by replacement therapies.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Transtornos Testiculares 46, XX do Desenvolvimento Sexual
/
Infertilidade Masculina
Tipo de estudo:
Estudo observacional
Limite:
Adulto
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Int. braz. j. urol
Assunto da revista:
Urologia
Ano de publicação:
2017
Tipo de documento:
Artigo
País de afiliação:
Turquia
Instituição/País de afiliação:
Erciyes University/TR
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