Bilateral gonadoblastomas with a left sided dysgerminoma in a true hermaphrodite (disorder of sexual differentiation) with 46, XY karyotype.

Ovotesticular DSD is not an uncommon disorder. The presence of Y chromosome confers a high risk of neoplastic transformation in dysgenetic gonads. The neoplastic development in these patients is associated with the presence of Y chromosome and intra abdominal location of the abnormal gonad. We report histogenetic details of a rare occurrence of bilateral gonadoblastomas and left sided dysgerminoma in a XY ovotestes DSD (disorder of sexual differentiation) in an 18 year old with a female phenotype.

A Case of 46,XY Pure Gonadal Dysgenesis with Loss of the Sex-Determining Region of Y Chromosome / 대한진단검사의학회지

A 23-yr-old phenotypic female was seen for primary amenorrhea. Her pubic hair was relatively well developed and external genitalia showed normal female appearance, but breast development was retarded. Transvaginal ultrasonographic examination showed a small uterus with indistinct streak gonads, but both ovaries were not detected. Cytogenetic study revealed 46,XY. In FISH and PCR, the sex-determining region of Y chromosome (SRY) was not detected. We report here a case of 46,XY pure gonadal dysgenesis with loss of the SRY.

Dermatoglyphics in 46, XY females.

Dermatoglyphics is known to be one of the best available diagnostic tools in genetic disorders. This paper aims to find out the diagnostic characteristic dermatoglyphic features in cytogenetically confirmed 46, XY female patients. The total number of patients studied (46, XY females) were 31 and the control consisted of 30 males and 30 females. Dermatoglyphic features, studied and tabulated, were: (a) Finger pattern frequency, (b) total finger ridge count (TFRC), absolute finger ridge count (AFRC), a-b ridge count, 'atd' angle and (c) palmar patterns eg, simian crease, Sydney line, hypothenar pattern, interdigital patterns. Results confirmed significant differences between the 46, XY females and the control groups: (i) 46, XY females had increased ulnar loops but decreased whorls as compared to control males (overall finger pattern frequency). (ii) The right thumb in 46, XY females had less whorls and more ulnar loops than both male and female control groups (individual finger pattern frequency). (iii) 46, XY females had lowered TFRC, AFRC, a-b ridge count than corresponding control groups (both control males and females). Significant differences were not observed for the 'atd' angle, interdigital patterns, hypothenar pattern, simian crease and Sydney line.

Amenorrea primaria secundaria a disgenesia gonodal pura 46 xy (Síndrome de Swyer). Reporte de una caso / Secondary first amenorrhea a pure gonadal dysgenesis 46XY (Syndrome of Swyer) Report of a case

La disgenesia gonodal pura 46XY (Síndrome de Swyer) es una entidad rara, caracterizada por la presencia de estrías gonodales indiferenciadas en una paciente de fenotipo femenino que posee genitales femeninos hipoplásticos. La etiología no está muy clara, pero con frecuencia involucra trastornos genéticos a nivel de la región determinante del sexo del cromosoma Y. Se reporta el caso de una paciente abordada por amenorrea primaria a quien se le diagnosticó el sindrome de Swyer y se incluye una breve revisión bibliográfica

Disgenesia gonadal pura com cariótipo XY e agenesia de vagina / Pure gonadal dysgenesis with XY karyotype with agenesis of the vagina

Os autores apresentam um caso de paciente com fenótipo feminino, agenesia de vagina, cariótipo 46, XY e presença de gônada rudimentar, calssificam como disgenesia gonadal pura e utilizam a técnica de neovaginoplastia com âmnio, tendo sucesso.

Disgenesia gonadal pura 46,xy / Pure gonadal dysgenesis 46,xy

Os autores relatam um caso de disgenesia gonadal 46,XY, forma incompleta, exporádica, que aos 20 anos de idade näo apresentavam tumor gonadal. Descrevem o tratamento cirurgico e hormonal e chamam a atençäo para o diagnóstico diferencial entre disgenesia gonadal pura e mista