Female with 46, XY karyotype

Female with 46, XY karyotype

Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders of androgen synthesis/action. Prophylactic gonadectomy should be considered in patients with 46, XY DSD because of the increased risk of gonadal malignancy. We report two rare c...

A prisoner with an unusual karyotype (46,XY,Dq-).

Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype.

To present the new karyotype with mixed gonadal dysgenesis, the aetiologic approach and difficulties in genetic counseling in mosaic sex chromosome disorders. We report a fourteen-year-old boy presented with slightly ambigious genitalia. Cytogenetic and fluorescence in situ hybridization investigations were carried out on his peripheral lymphocytes. As a result, three cell lines, 45,X, 46,X,idi...

The craniofacial complex in karyotype 46,XY females.

The craniofacial cephalometric dimensions, angles and dimensional ratios of five Finnish individuals with complete testicular feminization (CTF) were compared with their first-degree relatives and population female and male controls. The linear and angular measurements were made from standardized lateral cephalograms of patients and normal population controls from the 'Kvantti Study' series. Th...

46, XY female--a case report.

INTRODUCTION We examine a presumptive case of complete androgen insensitivity syndrome (CAIS) with certain unusual features. CLINICAL PICTURE A woman with early onset osteoporosis gave a history of primary amenorrhoea and surgery for intraabdominal gonads. She subsequently defaulted follow-up and hormone replacement therapy. Endocrinological evaluation revealed hypergonadotrophic hypogonadism...