Anomalías de la diferenciación sexual: a propósito de un caso / Anomalies of sexual differentiation: presentation of a case

Las disgenesias gonadales mixtas (DGM) son trastornos de la diferenciación sexual poco frecuentes, pero constituyen una causa importante de infertilidad. Presentan un cariotipo en mosaico con fórmula mos 45,X/46,XY y pueden dar lugar a gran variedad de fenotipos, encontrando desde diferentes grados de ambigüedad sexual en recién nacidos, hasta fenotipos masculinos normales, fenotipos femeninos normales o fenotipos del síndrome de Turner (ST). Se presenta el caso de una paciente diagnosticada de ST desde la pubertad a quien no se le detectó la presencia de fragmentos de cromosoma Y. Teniendo en cuenta que las pacientes diagnosticadas de ST con expresión de cromosoma Y (completo o parcial) tienen mayor riesgo de desarrollar gonadoblastoma, es importante resaltar la importancia de diagnosticar la presencia de cromosoma Y, recomendando incluso realizar de forma sistemática técnicas que aumenten la sensibilidad para detectarlo aunque no se haya detectado en el cariotipo

Mixed gonadal dysgenesis is a group of rare disorders of sexual differentiation and is a major cause of infertility. They show a mosaic karyotype 45,X/46,XY and can give rise to a great variety of phenotypes, finding from different degrees of sexual ambiguity in newborns, up to normal male phenotypes, normal female phenotypes or Turner syndrome (TS) phenotypes. The case is presented of a patient diagnosed with TS from puberty and in whom the presence of fragments of Y chromosome was not detected. Given that patients with a diagnosis of TS with Y chromosome expression (full or partial) are at increased risk of developing gonadoblastoma, it is important to emphasise the importance of diagnosing the presence of the Y chromosome, and even recommending systematically performing techniques that increase the sensitivity in order to detect it, even though it has not been detected in the karyotype

Androgen insensitivity syndrome.

PURPOSE OF REVIEW: Androgen insensitivity syndrome (AIS) can present with a wide range of phenotypes, and its management requires a multidisciplinary approach from diagnosis in infancy to adulthood. This review provides an update on some clinical and genetic aspects in AIS. Additional outcome data on surgical and psychosexual findings are presented, together with a discussion on the risk of development of gonadal tumours in AIS. RECENT FINDINGS: This review covers clinical features of AIS, including recent trends in sex of rearing, aspects of androgen receptor gene mutations and longer term outcomes in both complete and partial forms of AIS. SUMMARY: More follow-up studies are needed to optimize management in AIS, especially in the partial form. Predicting the risk of gonadal tumours is key to determining the timing of gonadectomy or whether to retain the gonads in the long term.