[Non-classical 21-hydroxylase deficiency: clinico-hormonal discrepancies and intrafamilial phenotypic variability]. / Deficiencia no clásica de 21-hidroxilasa: discrepancias clínico-hormonales y variabilidad fenotípica intrafamiliar.

BACKGROUND: We report here two families illustrating the intrafamilial phenotypic variety of the non-classical 21-hydroxylase deficiency and other discrepancies between clinical and hormonal data. PATIENTS, METHODS AND RESULTS: The index case in the first family had a mild hirsutism which appeared peripuberally and basal 17-hydroxyprogesterone over the measurement limit. One of her sister, without hair excess, had the same biochemical abnormality. The index case in the second family was detected at five years because of early appearance of public hair and basal 17-hydroxyprogesterone over the measurement limit. One of her siblings, a 16-year old girl, was also diagnosed of mild hirsutism and increased levels of basal and post-stimulation 17-hydroxyprogesterone. CONCLUSIONS: The association of marked biochemical abnormalities with scarce or no clinical expression in the first family and the different presentation form of both cases in the second family suggest that there is something else than the mutation in the CYP 21B gene in the non-classic deficiency of 21-hydroxylase.

Quality of life and socio-professional rehabilitation: study on patients with chronic mental diseases.

This study describes an inquiry concerning patients (65 in all) who were referred to the Socio-Professional Rehabilitation Department (CHS Le Vinatier, Bron) over 14 months. The aim was to study the influence of occupational therapy on the clinical evolution of psychotic patients, and more specifically on their quality of life. Two evaluations using questionnaires filled out both by the patients and the medical staff were performed. One evaluation was carried out at admission, and the second 3 months later. The studied variables were the patients' symptoms, quality of life and ability to perform a task. Validation studies showed the answers to questionnaires to be reliable indicators. It was found that this group of psychotic patients was anxious rather than depressed, and fairly autonomous; their dissatisfaction mainly concerned material conditions. The initial factors most related to quality of life after 3 months of treatment were mainly connected with their ability to perform a task, and to a lesser extent with the initial gravity of symptoms.