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We report a case of a very rare association of adrenal adenoma, unilateral adrenal hyperplasia, and bilateral renal artery stenosis. A 61-year-old man with a remarkable history of two severe strokes was admitted to the Nephrology department with hypertension associated with severe hypokalemia and metabolic alkalosis. Doppler of renal arteries was not conclusive, so contrast-enhanced scanning was done revealing a left adrenal adenoma, right adrenal hyperplasia, and bilateral moderate renal artery stenosis. After control of blood pressure with central anti-hypertensive drugs and calcium channel blockers and normalization of kalemia under potassium supplementation, the hormonal analysis was done showing an elevated plasma aldosterone concentration at 1,568 pmol/L, with a direct renin concentration below the detection level. Primary aldosteronism was confirmed and the prescription of an anti-aldosterone agent led to the control of blood pressure and potassium plasmatic levels. In front of arterial hypertension with hypokalemia, we recommend the assessment of secondary and primary hyperaldosteronism in a systematic way since the association of two or even three etiologies of hyperaldosteronism is possible and an appropriate diagnosis is essential for adequate treatment.

Abstract Background In Tunisia, the prevalence of diabetes mellitus increased from 15.5% on 2016 to 23% by 2023. While Chronic Kidney Disease (CKD) stills the most dreaded complications of diabetes, studies on the prevalence of chronic kidney disease non-dialysis diet are scarce. The aim of this study was to assess the prevalence of chronic kidney disease among the Tunisian diabetic population based on investigators’ specialty, demographic criteria (gender, age, duration of diabetes and geographic distribution) and diagnosis criteria (albuminuria and/or eGFR). Methods This observational, multicentric, and cross-sectional study enrolled all diabetic subjects from all regions of Tunisia with at least 3 months of follow-up before the inclusion date, from 09 January to 08 February 2023. CKD diagnosis was established based on the KDIGO guidelines. The study was carried out at medical departments and ambulatory clinics of different healthcare providers. Baseline data were collected by investigators using an electronic case report form (eCRF). Continuous variables were described by means, median, standard deviation, and quartiles. Categorical data were tabulated in frequencies and percentages. Results The overall prevalence of CKD among the 10,145 enrolled patients with diabetes mellitus was 38.7% with a 95%CI [37.8-39.6%]. 50.9% were male, with a mean age of 67.5 (± 11.3) years. The mean diabetes duration was 16.1 years (± 8.9). The highest CKD prevalence was noted among nephrologists (82.2%), while it was similar between the cardiologists and the primary care physicians (30.0%). CKD prevalence was highest among males (43.0% versus 35.1%) and increased proportionally with patients’ age and diabetes duration. CKD was more frequent in the Mid-East Area when compared to other regions (49.9% versus 25.3 to 40.1% in other regions). Albuminuria was present within 6.6% of subjects with CKD, and it was found an estimated glomerular filtration rate (eGFR)

Introduction: Growth Hormone Deficiency (GHD) is a rare disease marked by a complete or partial reduction in the production of growth hormone. Vitamin D deficiency is frequent and may be associated with several pathologies. However, the association between GHD and vitamin D deficiency has not been extensively studied. This study aimed to analyse VDR gene polymorphisms related to vitamin D status to ensure better care for patients with GHD. Material and methods: A case-control study was conducted at the Children's Hospital of Tunis in collaboration with the Farhat Hached's Hospital of Sousse, including patients with GHD and healthy subjects. Genetic analysis of the VDR gene polymorphisms was performed using PCR-RFLP technique. Haplotypes were examined with Haploview software, while statistical analyses were carried out using SPSS and R programming language. Results: Our study revealed significant differences in vitamin D (p = 0, 049) and calcium concentrations between patients and healthy subjects, which were lower in the GHD group (p = 0,018). A comparison of allelic and genotypic frequencies of the five polymorphisms indicated an association between the FokI polymorphism and GHD. Furthermore, significant difference was observed between the ApaI genotypes and PTH (p = 0,019) and ALP (p = 0,035). FokI genotypes were associated with phosphorus (p = 0,021). Additionally, One haplotype, CTAGT, exhibited a significant difference between the patients and healthy subjects (p = 0,002). Conclusion: Our study findings indicate that hypovitaminosis D is common among patients with GHD, even when undergoing treatment with rhGH. This underscores the critical importance of vitamin D supplementation during treatment.

We report the case of a patient who exhibits a concurrent diagnosis of type 1 diabetes mellitus, Gitelman syndrome and Cacci-Ricci disease. A 27-year-old male patient was diagnosed with Gitelman syndrome at the age of 3 years. Fourteen years later, he developed an autoantibody-negative type 1 diabetes mellitus. Cacci-Ricci’s disease was revealed by terminal hematuria and considered in view of the appearance found on the computed tomography (CT) scan. The finger-prick blood glucose level was 6 g/dl with no acetonuria. Creatinine clearance was 60 ml/min. Thyroid function tests were normal. Calcium, phosphorus and parathormone (PTH) levels were normal. Discussion: Gitelman syndrome is a rare disorder. The association between Gitelman syndrome and type 1 diabetes mellitus has been reported in the literature in two patients. Authors have investigated the association between Gitelman syndrome and type 2 diabetes mellitus. Several pathophysiological explanations have been put forward. Cacci-ricci disease is a rare, benign congenital anomaly. No association between type 1 diabetes mellitus, Gitelman syndrome and Cacci-Ricci disease has been reported in the literature. To our knowledge, this is the first case described in the literature.

Abstract Background Forty-six ,XY Differences/Disorders of Sex Development (DSD) are characterized by a broad phenotypic spectrum ranging from typical female to male with undervirilized external genitalia, or more rarely testicular regression with a typical male phenotype. Despite progress in the genetic diagnosis of DSD, most 46,XY DSD cases remain idiopathic. Methods To determine the genetic causes of 46,XY DSD, we studied 165 patients of Tunisian ancestry, who presented a wide range of DSD phenotypes. Karyotyping, candidate gene sequencing, and whole-exome sequencing (WES) were performed. Results Cytogenetic abnormalities, including a high frequency of sex chromosomal anomalies (85.4%), explained the phenotype in 30.9% (51/165) of the cohort. Sanger sequencing of candidate genes identified a novel pathogenic variant in the SRY gene in a patient with 46,XY gonadal dysgenesis. An exome screen of a sub-group of 44 patients with 46,XY DSD revealed pathogenic or likely pathogenic variants in 38.6% (17/44) of patients. Conclusion Rare or novel pathogenic variants were identified in the AR, SRD5A2, ZNRF3, SOX8, SOX9 and HHAT genes. Overall our data indicate a genetic diagnosis rate of 41.2% (68/165) in the group of 46,XY DSD.

Globularia alypum L. (GA) belonging to the Globulariaceae family is a Mediterranean plant which is widely used in traditional Tunisian medicine. The aim of this study was to investigate the phytochemical composition, antioxidant, anti-arthritic, antiproliferative, antibacterial and antibiofilm potential of aqueous GA leaf extracts (AGAL). Quantitative analyses of the different constituents of extracts were evaluated by high-performance liquid chromatography with photodiode-array detection (HPLC-DAD). Spectrophotometric methods and chemical tests were used for antioxidant and anti-arthritic activities. The antiproliferative study was evaluated using colorectal cancer SW620 cells, while the antibacterial assessment and analysis of the antibiofilm effects were determined by the microdilution method and the crystal violet assay, respectively. AGAL extracts presented several components, mainly Nepetin-7-Glucoside and trans-ferrulic acid. The results showed that they had an important antioxidant (IC50 = 0.34; 0.38 and 1.20 mg/mL) and anti-arthritic (IC50 = 2.94 mg/mL) properties, and these effects are displayed in a dose-dependent manner. In addition, this extract demonstrated significant antiproliferative (IC50 = 50 µg/mL), antibacterial (MIC = 6.25 mg/mL and MBC = 6.25 mg/mL), and antibiofilm (59.70% at 25 mg/mL) properties especially against S. aureus. The results achieved confirm the important role of this plant as a source of therapeutic activities.

Abstract The presence of prostatic tissue, in addition to uterus and adrenal tumors, is possible in 46XX patients with CAH. Lesions of these organs are usually benign. However, complications including prostate and adrenal cancer were also reported.

Acromegaly is, in most cases, caused by growth hormone secreting pituitary adenomas. Those patients often develop different pathologies of the thyroid gland, however, the occurrence of Grave´s disease is quite a rare situation. We report a case of a 64-year-old female patient who presented with signs of hyperthyroidism and imbalance of her diabetes mellitus. On physical examination, she had facial features of acromegaly. Biochemical testing confirmed the suspicion of acromegaly and Grave´s disease, with an elevated insulin-like growth factor-1 and a suppressed thyroid stimulation hormone with positive TSH-receptor antibodies. A pituitary Magnetic Resonance Imaging was performed, revealing a macro-adenoma and an empty sella. The patient successfully underwent a transsphenoidal surgery and obtained a remission of her hyperthyroidism under anti-thyroid drugs.

Congenital adrenal hyperplasia refers to a group of rare genetic disorders affecting the adrenal glands. 21-hydroxylase deficiency is the most prevalent and the most studied cause while the remaining enzymatic defects are less common, accounting for less than 10% of cases. We herein described the clinical, biological and molecular characteristics and outcome of patients of the same family diagnosed with 11-Beta-hydroxylase deficiency. The disorder was revealed by peripheral precocious puberty between the age of 2-3 years in males and by the virilization of the external genitalia in females. Genetics finding a homozygous p.Gly379Val mutation in the CYP11B1 gene. All patients received hydrocortisone supplementation therapy and mineralocorticoid-receptor antagonist. The females underwent a surgical correction of the ambiguous genitalia at the neonatal age. Long term follow-up revealed metabolic syndrome, obesity and hypertension in the first two patients, an impaired final height in the two females and hypokalemia in three patients.

Studies evaluating the metabolic profiles of ENSs are scarce and presented controversial conclusions. This study aimed to compare the metabolic profiles of ENSs’ and AHNSs’ groups. Males aged 25–45 years and free from a known history of metabolic and/or cardiovascular diseases were included. According to the smoking status, two groups of ENSs and AHNSs were identified. Body mass index (BMI, kg/m 2 ), waist circumference (WC, cm), systolic and diastolic blood pressures (SBP, DBP, mmHg), fasting blood data in mmol/L (blood glycemia [FBG], triglycerides [TG], total cholesterol [TC], high- and low- density lipoprotein cholesterol [HDL-C, LDL-C]) and obesity status were evaluated. The metabolic syndrome (MetS) was defined according to the 2006 International Diabetes Federation (IDF) recommendations. Data were expressed as mean ± standard deviation ( SD ) or percentages. Compared to the AHNSs’ group ( n = 29), the ENSs’ one ( n = 29) had (a) higher values of BMI (26.5 ± 2.3 vs. 28.2 ± 3.6), WC (95 ± 7 vs. 100 ± 10), and TG (1.22 ± 0.40 vs. 1.87 ± 0.85); and (b) included a lower percentage of males having low HDL-C (82.7% vs. 62.0%), and higher percentages of males having obesity (6.9% vs. 37.9%) or hypertriglyceridemia (10.7% vs. 51.7%). Both the ENSs’ and AHNSs’ groups: (a) had similar values of FBG (5.38 ± 0.58 vs. 5.60 ± 0.37), TC (4.87 ± 1.16 vs. 4.36 ± 0.74), HDL-C (0.92 ± 0.30 vs. 0.82 ± 0.21), LDL-C (3.09 ± 0.98 vs. 2.92 ± 0.77), SBP (117 ± 9 vs. 115 ± 8), and DBP (76 ± 6 vs. 73 ± 7); and (b) included similar percentages of males having normal weight (17.2% vs. 31.0%); overweight (44.8% vs. 62.1%); android obesity (79.3% vs. 59.6%), hypertension (10.3% vs. 10.3%), hyperglycemia (37.9% vs. 48.2%), and MetS (51.7% vs. 34.5%). There is a need to monitor narghile use among male metabolic patients since it alters some components of the MetS.

La cétose est une complication aiguë du diabète qui consiste en une accumulation de corps cétoniques sanguins. Malgré la haute prévalence du diabète cétosique décrite, il existe très peu d’informations concernant l’épidémiologie de cette complication inaugurale du diabète en Tunisie. L’objectif était de déterminer les caractéristiques épidémiologiques et clinico-biologiques des cétoses inaugurales dans un hôpital du Centre-Est tunisien. Il s’agit d’une étude rétrospective, transversale et exhaustive, à propos de patients admis pour une cétose inaugurale sur une période allant de janvier 2010 à août 2016. La population d’étude a été divisée en 2 groupes selon la présence ou pas d’une auto-immunité anti pancréatique: groupe DAI (diabète de type 1 auto-immun) regroupe tous les patients avec une auto-immunité, et le groupe DNAI (diabète cétosique non auto-immuns) sans auto-immunité. Il s’agit de 391 patients, de sex ratio 266 hommes/125 femmes, d’âge moyen de 34±14,33 ans. La prédominance masculine était nette: 68% dans la population générale. L’âge de la cétose était significativement plus précoce dans le groupe DAI. Un facteur précipitant la cétose était retrouvé chez 77,7% de la population globale d’étude, significativement plus fréquent dans le groupe DAI que dans le groupe DNAI. Le facteur le plus retrouvé était les infections virales. Les Anticorps anti thyroïdiens étaient significativement importants dans le groupe DAI. La cétose est un facteur de décompensation inaugurale fréquent du diabète en Tunisie. La population la plus importante a été décrite chez l’adulte jeune masculin, avec l’absence d’une auto-immunité, et un profil clinique du diabète de type 2.

L'influence du stress comme facteur précipitant l'apparition du diabète de type 1 est un sujet largement étudié dans la littérature. La relation entre les traumatismes physiques et psychologiques et le diabète ont été un sujet rarement étudié en milieu militaire. Le diabète post-traumatique reste toujours un sujet controversé. Nous rapportons le cas d'un soldat tunisien, sans antécédents personnels ou familiaux d'auto-immunité, qui a été diagnostiqué pour un diabète de type 1 au décours d'une agression physique lors de conflits sociaux entre les forces de l'ordre et les citoyens.

Introduction. Brown tumors of hyperparathyroidism are locally destructive bone lesions. They are the late clinical consequence of the disease. They can occur in primary, secondary, and rarely tertiary forms. They affect usually long bones and less frequently those of the maxilla. Case Report. Our 45-year-old female patient presented with a mandibular tumor next to the first right lower molar. At first, we have chosen tooth extraction and tumor excision. When the histological report showed the giant cell tumor we suspected a metabolic bone disorder. Biochemical tests screened hyperparathyroidism and severe vitamin D deficiency, and parathyroid scintiscan revealed parathyroid adenoma. Discussion. The association of hyperparathyroidism and vitamin D deficiency leads to diagnostic uncertainty. First, secondary hyperparathyroidism can be due vitamin D deficiency. Second, data available show that vitamin D deficiency is more prevalent in patients with primary hyperparathyroidism than in general population. Hyperparathyroidism management is based on correct and precise diagnosis. Furthermore, the resolution of brown tumors depends on the cure of hyperparathyroidism. In fact, bone lesions should regress after biological tests’ normalization. Conclusion. Clinicians should be aware of such rare and complicated presentation. They must consider the diagnosis of the brown tumor to avoid extensive surgical excision and teeth extractions.

Macroprolactinemia is a polymeric form of prolactin-release, causing mildly symptomatic clinical pictures. The former can be isolated or associated with other causes of hyperprolactinemia. The association with an empty sella syndrome is rare. We report a case of a female patient discovered with this association. It's about a female patient 47 years old, followed up since the age of 31 years for bilateral galactorrhea and a spaniomenorrhea. There has been no associated drug intake. Her exploration has showed a serum prolactin level of 635 mIU/L. Thyroid test results were normal T4 = 10,2ng/L and TSH = 1.76 mIU/L. A brain scan has showed an empty sella turcica. Despite the unchanged levels of prolactinemia, the evolution under dopaminergic 5 mg /D has been marked by the occurrence of a pregnancy with persistent moderate hyperprolactinemia in the postpartum. Chromatography has showed a predominance of the macroprolactin form with: Prolactin monomer at 4.8%, Big Prolactin at 5% and Big Big Prolactin at 83%, thus stopping bromocriptine. Our observation suggests that macroprolactinemia can be associated with conventional etiologies of moderate hyperprolactinemia as the empty sella syndrome. Its detection would prevent the use of dopaminergic therapy which seems not useful.

Background Each year, over 340,000 diabetic patients across the world travel to Saudi Arabia for the Hajj pilgrimage. As they carried out important rituals, several complications might be encountered, particularly foot lesions. We’ve been therefore interested, through this study, in the assessment of podiatric risk in diabetic pilgrims. Methods A prospective longitudinal study was conducted in the region of Sousse, Tunisia. The evaluation of diabetic patients preparing for the pilgrimage was conducted in two phases, before and after the pilgrimage. Results Forty-three diabetic patients planning to perform pilgrimage were included in the study. Post-pilgrimage clinical exams revealed hyperkeratosis (96.8%) and superficial fungal infections (61.3%) as the most common podiatric lesions. Foot ulcers attributed to trauma from walking were found in 7% of patients. Our data showed a significant association between foot ulcer risk and lower total cholesterol (p=0.02), HDL cholesterol (p=0.02), LDL cholesterol (p=0.01), as well as higher triglyceride levels (p=0.04) only in univariate analysis. Other diabetes-related risk factors did not show significant correlations. Conclusion Given the increased risk of foot lesions in diabetic pilgrims, a thorough assessment and tailored management based on individual risk levels are essential before, during, and after the pilgrimage.