RESUMO
Nonclassic congenital adrenal hyperplasia (NCAH) is a genetic disorder characterized by mutations in the genes encoding enzymes involved in cortisol production, most commonly the 21-hydroxylase enzyme. Unlike classic congenital adrenal hyperplasia (CAH), NCAH typically presents later in life with milder symptoms. The diagnosis of NCAH can be challenging due to its nonspecific symptoms and variable presentation. Early detection is crucial for timely intervention and management, particularly in families with a history of the condition. We report a case of NCAH in a patient from the Central-East Region of Tunisia, in whom the subsequent genetic testing revealed a Val281Leu (V281L) mutation in the CYP21A2 gene. A 26-year-old female presented with facial hirsutism and irregular menstrual cycles. Physical examination revealed mild hirsutism and laboratory tests showed elevated levels of testosterone and 17-hydroxyprogesterone (17-OHP). A provisional diagnosis of NCAH was made, subsequently confirmed by an adrenocorticotropic hormone (ACTH) stimulation test demonstrating an exaggerated 17-OHP response. Genetic testing revealed heterozygosity for the V281L mutation. Family testing showed the patient's mother to be homozygous and the father heterozygous for the mutation. This report highlights the importance of recognizing subtle symptoms of NCAH for early diagnosis and management. Genetic testing aids in confirming the diagnosis and identifying carriers within families. Treatment with glucocorticoids aims to suppress adrenal androgen production and manage symptoms. Regular follow-up is essential to monitor treatment response and adjust medication as needed. NCAH can present with subtle symptoms, necessitating a high index of suspicion for a proper diagnosis. Genetic testing plays a crucial role in confirming the diagnosis and identifying carriers within families. Early intervention and regular follow-up improve outcomes in affected individuals. This report also underscores the significance of genetic testing in the management of NCAH and highlights the need for increased awareness about this condition among healthcare providers.
RESUMO
OBJECTIVE: To determine the incidence and risk factors of adverse events (AE) in a Tunisian university hospital. METHOD: We carried out a longitudinal observational study in 2016 over a period of 3 months in the Sahloul university hospital of Sousse, Tunisia. Data were collected using a pretested form filled by doctors previously trained in the collection methodology, upon each visit to all hospitalized patients. RESULTS: Overall, 1,357 patients were eligible. We identified 168 AEs in 131 patients with AEs incidence of 12.4% (95% CI: [7.41 - 17.38]), and patient incidence of 9.7% (95% CI: [4.63 - 14.76]). The incidence density of AEs was 1.8 events per 100 days of hospitalization. Hospital acquired infection and unplanned readmission related to previous healthcare management were the most common AEs (43.4 and 12.5% respectively). Multivariate analysis revealed as independent factors of AEs: surgery (P = 0.013; RR = 1.68; CI: [1.11-2.54]), the use of central-venous-catheter (P < 10-3; RR = 4.1 ; CI: [2.1-8]), tracheotomy (P = 0.001; RR = 21.8; CI: [3.7-127.8]), transfusion (P = 0.014; RR = 2.1; CI: [1.16-3.87]) and drug intake (P = 0.04; RR = 2.2; CI: [1.04-4.7]). CONCLUSION: The present study showed a high incidence of AEs and the involvement of invasive devices in their occurrence. Thus, targeted interventions are needed.
