Resumen

HERNANDEZ, Evelyn; FUNG, Liliana; PIZZI, Rita  y  NUNEZ, Marina. Trastorno del desarrollo sexual 46, XY tipo ovotesticular por síndrome de Frasier: Caso clínico. Rev Obstet Ginecol Venez [online]. 2016, vol.76, n.1, pp.67-71. ISSN 0048-7732.

Objective: Case report of female patient 27 years old, with stage V chronic kidney disease, and received a living donor kidney transplant at 19 age, who is referred to Endocrine Unit for primary amenorrhea. Case report: Physical examination evidenced: Harmonic female phenotype, normal height, Tanner IV pubic hair and axillary hair present, breast Tanner I, cardiopulmonary: unchanged. Abdomen: Space-occupying lesion in the right iliac fossa, painless, compatible with intrapelvic kidney and space-occupying lesion in the right inguinal canal <1 cm, painless, mobile, without inguinal hernia or space-occupying lesion in lower abdomen. External genitalia: Majora labia with appearance and normal configuration, Prader 1, no palpable tumors. Inguinal and pelvic sonography: intrapelvic kidney, uterus and gonads were not observed. 46, XY karyotype. Genetic study: PCR Amplification DNA of WT1 gene: Amino acid substitution C> T + 4. IVS9. Bilateral gonadectomy was performed, the biopsy reported: Bilateral ovotestis without gonadoblastoma. Conclusion: The presence of disorder of sexual development and ovotestis without gonadoblastoma and germ cell tumor are unusual presentations of this syndrome, is the first case reported in literature.

Palabras clave : Frasier Syndrome; Primary Amenorrhea; Disorder of Sex Development; WT1 Gene.

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