Hypergonadotrophic hypogonadism in an XX female subject due to 17,20 steroid desmolase deficiency.

A 22 year old XX female patient with primary amenorrhoea and sexual infantilism was studied. Persistently elevated serum LH and FSH concentrations and exaggerated LRH pituitary responsiveness indicated deficient ovarian hormonal production. Serum levels of C21 and C19 steroids measured by specific radioimmunoassays before and after appropriate stimulations demonstrated an impairment of adrenal and ovarian steroid biosynthesis. Baseline levels of androstenedione (delta 4-A), testosterone (T), and oestradiol-17 beta (E2) were persistently below the normal range for healthy women at early follicular phase, whereas progesterone (P) and 17 alpha-OH-progesterone (17-OH-P) serum levels were significantly higher than those observed for normal women. Adrenal and gonadal stimulation with ATCH and hCG, respectively, resulted in a considerable rise in serum P and 17-OH-P without any significant change in circulating levels of delta 4-A, T, and E2. These findings were consistent with the diagnosis of 17,20 steroid desmolase deficiency at both adrenal and ovarian levels. This is the first report of a 17,20 desmolase deficiency in an XX individual, and is in line with previous suggestions that familial occurrence of the disorder would fit an autosomal recessive pattern of inheritance.

Linfomas primarios del intestino delgado. Informe de 18 casos. / Primary lymphomas of the small intestine (report of 18 cases)

Se analizam 18 casos de linfoma primario del intestino delgado. Estos representan el 43% de los linfomas del tubo digestivo vistos en el INNSZ. Las caracteristicas clinicas e histopatologicas muestran tendencia tanto hacia los linfomas de tipos mediterraneo como de tipo occidental, predominando la mezcla de caracteristicas de ambos tipos en la mayoria de nuestros pacientes en cuanto a edad, localizacion, presencia de atrofia de vellosidades intestinales, infiltracion linfoplasmocitaria y sindrome de absorcion intestinal deficiente. La sobrevivencia global a 5 anos calculada mediante el metodo actuarial fue de 29,4% y no se vio afectada por la edad tipo histologico ni estadio de invasion tumoral y si en cambio por la aparicion de complicaciones quirurgicas. Utilizando la clasificacion de Lukes y Collins, el 75% correspondio a linfomas de celulas grandes y pequenas sin muesca. En 13 casos en los que se practico tincion de inmunoglobulinas intracitoplasmicas con la tecnica de inmunoperoxidasa, 8 fueron monoclonales (62%), dos fueron negativos y tres fueron policlonales