Objective. Multiple endocrine neoplasia type 1 (MEN1) is a very rare genetic disorder characterized by an autosomal dominant inheritance. We aim through this case series to delineate the wide spectrum of its clinical features. Methods. In the present study, we report the clinical and genetic findings of four siblings affected by this disorder. DNA was extracted from patients' blood leukocytes using a phenol-chloroform method and assessed for purity with a NanoDrop spectrophotometer. Ten exons of the MEN1 gene were amplified by PCR, verified by gel electrophoresis, and sequenced using Big Dye Terminator chemistry followed by capillary electrophoresis. The sequences were than analyzed with CHROMAS and compared to reference sequences. As for the variant, interpretation and pathogenicity were assessed using Ensembl, ClinVar, dbSNP, gnomAD, Alamut Visual, and VARSOME. Results. We highlight the wide range of phenotypes encompassing primary hyperparathyroidism, macroprolactinoma, lipomas, papillary thyroid carcinoma, ectopic thyroid, multinodular goiter, and bilateral adrenal nodules observed in this family contrasting with the same pathogenic frameshift mutation. We also pinpoint to a second mutation detected in two of the siblings while discussing its pathogenicity. Finally, we provide an overview of the clinical manifestations of MEN1 and its genetic background. Conclusion. This research sets the stage to further investigate the molecular mechanisms underlying the novel nonsense mutation. Additionally, it incites other research to explore the frequency of this mutation in other populations and finally to conduct functional studies.

INTRODUCTION:Polycystic ovary syndrome (PCOS) is a common endocrine disorder affecting women worldwide, posing a major public health concern. This multifaceted condition significantly impairs quality of life (QOL) across multiple domains. AIM:To assess QOL and eating disorders (EDs) in patients with PCOS. METHODS:A cross-sectional descriptive and comparative study was conducted on women with confirmed PCOS who were followed in the Endocrinology Department of Hedi Chaker Hospital, Sfax, Tunisia, and a targeted group of women with PCOS recruited through Google Forms. The PCOSQ-42 questionnaire for unmarried women, the PCOSQ-47 for married women, and the SCOFF questionnaire were used as assessment tools. Participants were divided into two groups: Group 1, consisting of French participants, and Group 2, consisting of Tunisian participants. RESULTS:A total of 71 French participants (Group 1) and 101 Tunisian participants (Group 2) were included in the study. All participants reported a compromised QOL. Among married women, the psychological well-being domain had the lowest score (2.86 ± 0.7), while the menstrual and fertility disorders domain was the most affected among unmarried women, with an average score of 2.84 ± 0.8. EDs were identified in 70.93% of participants, with a higher prevalence among unmarried women. A better QOL was observed among married women in Group 2 compared to their counterparts in Group 1. CONCLUSION:The findings reveal a high prevalence of impaired QOL and EDs in women with PCOS, with cultural and marital status differences warranting tailored interventions.

INTRODUCTION:Diabetic self-care practices (DSCP) refer to behavioral actions by people with diabetes to manage their condition effectively. This study aimed to determine the prevalence of inadequate DSCP among Tunisian diabetics and identify associated predictors. METHODS:A cross-sectional study was conducted from March to April 2022 at the University Hospital Center of Sfax, covering southern Tunisia. Adults with type 1 or type 2 diabetes attending the Endocrinology outpatient clinic during the study period were included. The validated SCODI questionnaire with a cut-off of 70 was used to assess DSCP. RESULTS:A total of 200 patients were enrolled to the study with a response rate of 93.8%. Median age was 55 years with IQR= [42-63] years. There were 128 females (64%) and 153 married patients (76.5%). The prevalence of inadequate self-care practice was 51 % (N=102 cases). Inadequate self-care maintenance, inadequate self-care monitoring, inadequate self-care management and inadequate self-care confidence were noted in 35 cases (17.5%), 127 cases (63.5%), 155 cases (77.5%) and 73 cases (36.5%), respectively. Independent factors of inadequate DSCP were male gender (AOR=2.8; CI=[1.3-6.1]), low income (AOR=5; CI= [2-10]), irregular physical activity (AOR=4; CI= [2-8]), irregular follow-up (AOR=5; CI= [1.6-16.6]), and irregular blood sugar monitoring (AOR=11.3; CI=[5-25]). Besides, being on insulin (AOR=0.27; CI= [0.1-0.7]) or mixed regimen (AOR=0.35; CI=[0.15-0.9]) was independently associated with better DSCP. CONCLUSION:This study revealed a high prevalence of inadequate DSCP. It highlights the need for targeted interventions to promote healthier lifestyles, improve patient education, and enhance disease self-management among patients with diabetes.