Fusarium species have emerged as one of the more outstanding groups of clinically important filamentous fungi, causing localized and life-threatening invasive infections with high morbidity and mortality. The ability to produce different types of hydrolytic enzymes is thought to be an important virulence mechanism of fungal pathogens and could be associated with the environment of the microorganism. Here, we have measured the production of two distinct lipolytic enzymes, phospholipase and esterase, by sixteen Fusarium isolates recovered from the hospital environment, immunocompromised patients’ blood cultures, foot interdigital space scrapings from immunocompromised patients, and foot interdigital space scrapings from immunocompetent patients (4 isolates each). Fourteen of these 16 isolates were identified asFusarium solani species complex (FSSC) and two were identified as F. oxysporum species complex (FOSC). Some relevant genus characteristics were visualized by light and electron microscopy such as curved and multicelled macroconidia with 3 or 4 septa, microconidia, phialides, and abundant chlamydospores. All Fusarium isolates were able to produce esterase and phospholipase under the experimental conditions. However, a negative correlation was observed between these two enzymes, indicating that a Fusarium isolate with high phospholipase activity has low esterase activity and vice versa. In addition, Fusarium isolated from clinical material produced more phospholipases, while environmental strains produced more esterases. These observations may be correlated with the different types of substrates that these fungi need to degrade during their nutrition processes.

Primary Ovarian Insufficiency (POI) is a clinical condition characterized by ovarian dysfunction before 40 years of age. In 8-9 % of patients, both familial and sporadic chromosome abnormalities have been reported. These include numerical abnormalities such as monosomy or trisomy X, partial aneuploidies, such as deletions or isochromosomes, and structural abnormalities such as X;autosomal translocation (XAT). We report the case of a patient diagnosed with hypergonadotropic hypogonadism at the age of 18, whose cytogenetic study revealed a formula 46,X,t(X;11)(q23;q22), interpreted as an X;autosome balanced translocation with breakpoint in the critical region for normal ovarian differentiation. At the age of 25, under hormone replacement therapy, the patient became pregnant. She gave birth to a girl with normal growth and development, with thelarche and menarche at 11 years old. At the age of 13 years and 3 months, because of an arrest of pubertal development, she was diagnosed with hypergonadotropic hypogonadism. The cytogenetic study detected the X;autosome balanced translocation inherited from her mother. Women with X;autosome balanced translocation frequently develop premature ovarian failure because of breakpoints in the critical region of the X chromosome from Xq13 to Xq27. In conclusion, we report the case of two patients (mother and daughter) with a diagnosis of XAT, and discuss molecular genetics issues related to alterations of X chromosome segments involved in ovarian function, as well as the consequences for potential offspring.

La insuficiencia ovárica primaria (IOP) es una condición clínica que describe un estado de disfunción ovárica que se presenta antes de los 40 años. En el 8-9 % de las pacientes se han descripto anomalías del cromosoma X, tanto familiares como esporádicas. Estas incluyen anomalías numéricas como la monosomía o trisomía X, aneuploidías parciales como deleciones o isocromosomas, y anomalías estructurales como las translocaciones X;autosoma (TXA). Presentamos una paciente con diagnóstico de hipogonadismo hipergonadotrófico efectuado a los 18 años, en la que el estudio citogenético reveló un cariotipo 46,X,t(X;11)(q23;q22), interpretándose como una translocación X;autosoma balanceada con punto de ruptura en la región crítica para la función ovárica normal. A los 25 años de edad, bajo tratamiento hormonal sustitutivo cursó un embarazo. Nació una niña con crecimiento y desarrollo normales, con telarca y pubarca a los 11 años. A los 13 años y 3 meses, debido a una detención en el desarrollo puberal, se le diagnosticó un hipogonadismo hipergonadotrófico. El estudio citogenético detectó la traslocación X;autosoma balanceada heredada de su madre. Las mujeres con translocaciones X;autosoma balanceadas frecuentemente desarrollan falla ovárica prematura por interrupción de la región crítica del cromosoma X que se extiende entre Xq13 a Xq27. En conclusión, presentamos dos pacientes (madre e hija) con diagnóstico de una TXA balanceada, y discutimos los aspectos vinculados con las alteraciones de los segmentos del cromosoma X involucrados en el funcionamiento ovárico, así como las consecuencias para su eventual descendencia.