Disgerminoma en un adolescente con síndrome de Down: Reporte de Caso / Dysgerminoma in an adolescent with Down's syndrome: A case report

Introducción: Los tumores de las células germinales son la neoplasia maligna del ovario más pre-valente en adolescentes y niñas, son detectados generalmente en estadios iniciales. No se conoce la asociación con el síndrome de Down, motivo de presentación del presente caso. Caso Clínico: Se presenta el caso de una niña de 13 años de edad con síndrome de Down, referida por una masa supra púbica dolorosa de dos meses de evolución. Taller diagnóstico: Los estudios de extensión detectaron un tumor a nivel pélvico dependiente de ovario izquierdo, por lo que se planificó una tumorectomía. El estudio histopatológico determinó la presencia de un tumor germinal con componente de disgerminoma y trofoblástico. Evolución: La paciente fue prescrita con tratamiento quimioterápico, con una evolución favorable a los 16 meses de seguimiento. Conclusión: la clínica clásica de tumores de células germinales en el síndrome de Down es poco indicativa; en la mayoría de los casos se trata de preservar la fertilidad, inclusive siendo niñas porta-doras de Síndrome de Down. El seguimiento en el presente caso ha sido favorable a 16 meses.

Introduction: Germ cell tumors are the most prevalent ovarian malignancy in adolescents and girls; they are generally detected in early stages. The association with Down syndrome, the reason for presenting this case, is unknown. Clinical Case: We present the case of a 13-year-old girl with Down syndrome, referred by a painful suprapubic mass with two months of evolution. Diagnostic workshop: The extension studies detected a tumor at the pelvic level dependent on the left ovary, for which a lumpectomy was planned. The histopathological examination determined the presence of a germ cell tumor with a dysgerminoma and trophoblastic component. Evolution: The patient was prescribed chemotherapy treatment, with favorable development at 16 months of follow-up. Conclusion: The classic symptoms of germ cell tumors in Down syndrome are not very indicative; In most cases, it is about preserving fertility, even when girls are carriers of Down Syndrome. Follow-up, in this case, has been favorable for 16 months.

Functional analyses of three acyl-CoA synthetases involved in bile acid degradation in Pseudomonas putida†DOC21.

Pseudomonas putida DOC21, a soil-dwelling proteobacterium, catabolizes a variety of steroids and bile acids. Transposon mutagenesis and bioinformatics analyses identified four clusters of steroid degradation (std) genes encoding a single catabolic pathway. The latter includes three predicted acyl-CoA synthetases encoded by stdA1, stdA2 and stdA3 respectively. The ΔstdA1 and ΔstdA2 deletion mutants were unable to assimilate cholate or other bile acids but grew well on testosterone or 4-androstene-3,17-dione (AD). In contrast, a ΔstdA3 mutant grew poorly in media containing either testosterone or AD. When cells were grown with succinate in the presence of cholate, ΔstdA1 accumulated Δ(1/4) -3-ketocholate and Δ(1,4) -3-ketocholate, whereas ΔstdA2 only accumulated 7α,12α-dihydroxy-3-oxopregna-1,4-diene-20-carboxylate (DHOPDC). When incubated with testosterone or bile acids, ΔstdA3 accumulated 3aα-H-4α(3'propanoate)-7aß-methylhexahydro-1,5-indanedione (HIP) or the corresponding hydroxylated derivative. Biochemical analyses revealed that StdA1 converted cholate, 3-ketocholate, Δ(1/4) -3-ketocholate, and Δ(1,4) -3-ketocholate to their CoA thioesters, while StdA2 transformed DHOPDC to DHOPDC-CoA. In contrast, purified StdA3 catalysed the CoA thioesterification of HIP and its hydroxylated derivatives. Overall, StdA1, StdA2 and StdA3 are acyl-CoA synthetases required for the complete degradation of bile acids: StdA1 and StdA2 are involved in degrading the C-17 acyl chain, whereas StdA3 initiates degradation of the last two steroid rings. The study highlights differences in steroid catabolism between Proteobacteria and Actinobacteria.