RESUMEN
Primary glucocorticoid resistance (OMIM 615962) is a rare endocrinologic condition caused by resistance of the human glucocorticoid receptor (hGR) to glucocorticoids (GR) and characterised by general or partial insensitivity of target organs to GK. Compensatory activation of hypothalamic-pituitary-andrenal axis results in development of a various pathological conditions caused by overstimulation of adrenal glands. Clinical spectrum may range from asymptomatic cases to severe cases of mineralocorticoid and/or androgen excess. At present time, primary generalized glucocorticoid resistance has been exclusively associated with defects in the NR3C1 gene. Here, we present a case report of an adolescent patient with clinical presentation of glucocorticoid resistance confirmed by detailed endocrinologic evaluation but no confirmed mutations in the NR3C1 gene.
Asunto(s)
Errores Innatos del Metabolismo , Receptores de Glucocorticoides , Receptores de Glucocorticoides/deficiencia , Adolescente , Humanos , Receptores de Glucocorticoides/genética , Glucocorticoides/uso terapéutico , Glándulas Suprarrenales , Errores Innatos del Metabolismo/genética , Enfermedades RarasRESUMEN
The structure of the microbial community (the fungal-bacterial ratio) has been assessed by selective inhibition of the substrate-induced respiration (SIR) using streptomycin sulfate and cycloheximide antibiotics in the gray forest soil of eluvial, transite, transite-accumulative, and accumulative (meadow alluvial) facies of slope landscape on the right bank of the Oka River (near Pushchino, Moscow oblast) which represents an abandoned field, small-leaved wood, spruce forest, and meadow. The concentrations of bactericide and fungicide were selected experimentally for each landscape facies which provide the greatest SIR inhibition of the soil upon their individual application and in combination. Fungi were established to be predominant in the contribution to the total SIR which was found to be 82-97%. A dependence between the structure of the microbial community and the C/N ratio and pH of the soil was shown.