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Introduction: Polycystic ovary syndrome is a common chronic condition characterized by insulin resistance and hyperandrogenism, leading to significant health risks and impaired quality of life. Sodium-glucose transporter type 2 inhibitors have shown promise in improving the metabolic profile of women with polycystic ovary syndrome. However, their impact on hormonal parameters and cycle disorders remains uncertain., Methods: This systematic review analyzed randomized clinical trials published up to 1 December 2023, comparing sodium-glucose transporter type 2 inhibitors to metformin, other antidiabetic agents, or placebo in women with polycystic ovary syndrome. The primary outcomes were changes in total testosterone, free androgen index, dehydroepiandrosterone sulfate, delta-4 androstenedione, and cycle disorders., Results: Five randomized studies were included, evaluating canagliflozin, dapagliflozin, licogliflozin, or empagliflozin against metformin, exenatide, or placebo, with a total of 214 participants. Improvements in total testosterone and dehydroepiandrosterone sulfatewere observed in some studies, but the effects were inconsistent across drugs and outcomes. Additionally, two studies reported beneficial effects on cycle disorders., Conclusions: Sodium-glucose transporter type 2 inhibitors appear to have a potential but variable impact on hormonal parameters in women with polycystic ovary syndrome. However, larger and longer-duration studies are needed to fully elucidate their long-term efficacy in addressing hyperandrogenism and improving overall outcomes in these patients., Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© The Author(s) 2024.)

Introduction: The cover letter is a critical component of medical journal submissions, often influencing acceptance decisions. However, authors frequently underestimate its importance. This narrative review aimed to provide guidance for authors on writing effective and succinct cover letters., Methods: We conducted a narrative review of literature on the recommended structure and content for drafting a cover letter., Results: An effective and succinct cover letter should include the names of the editor in chief and journal, submission details, ethical statements, authors' agreement, and contact information. Additional elements such as declarations of conflicts of interest, funding sources, and permissions may also be necessary. The cover letter should emphasize the manuscript's uniqueness without merely duplicating the abstract., Conclusion: Cover letters remain pivotal for manuscript acceptance and must adhere to specific guidelines.

Objective. The hormonal balance is dependent on the internal and external stimuli. The baseline cortisol (BC) and thyroid stimulating hormone (TSH) levels have been observed to vary and have a predictive value in critical illness settings. Few reports have studied their variation in non-severe acute illness. The present study aims to describe the variation of BC and TSH levels and to determine the factors influencing BC and TSH levels in patients admitted with non-severe acute illness. Patients and Methods. This is a cross-sectional study of patients admitted to Infectious Diseases and Endocrinology units at the Department of Endocrinology-Diabetology and Internal Medicine at Tahar Sfar University Hospital between March 15th and September 15th, 2020. BC and TSH levels were obtained during the hospitalization. Results. A total of 143 patients were included in this study with 75 presenting with infection. All infections were community-acquired and predominantly non-severe. The BC levels were higher in patients with infection (p=0.004), especially those admitted via the emergency department (p=0.009) with a fever (p=0.015). The BC positively correlated with the temperature (p=0.002, r'=0.350), CRP levels (p=0.002, r'=0.355), neutrophil to lymphocyte ratio (p=0.045, r'=0.235), and SOFA score (p=0.023, r'=0.262). On the other hand, TSH levels were comparable in the presence of infection (p=0.400). TSH levels did not correlate with the fever, the severity of infection, or inflammation biomarkers. Both BC and TSH did not predict unfavorable outcomes in non-severe infected patients. Conclusion. In patients admitted with critical acute infections, the BC levels seem to indicate a relatively more severe infectious state. On the other hand, TSH levels did not show significant variations in these patients., (© 2024 Houcem Elomma Mrabet et al., published by Sciendo.)

Introduction-Aim: The third cycle of medical studies (TCMS) lasts 3 years for the specialty of family medicine (FM) in Tunisia. The members of the FM committee of the Faculty of Medicine of Monastir (FMM) aimed to detail the learning objectives (LO) of residents in FM., Method: We used the Delphi method in 2 rounds including a group of experts called FM Learning Objectives Writing Group (FMLOWG) at the FMM. The FMLOWG included 74 university hospital physicians and FM internship supervisors. These members actively participated in the 10 meetings held during the month of March 2022. Three points were discussed: the identification of LOs; the development of training titles and the proposal of the teaching methods to be adopted. The writing was subdivided into 5 domains of LO: transversal, public health, typical population and by system., Results: We identified 1359 LOs for FM residency, for which 552 were LOs per system (40.5%). The learning included 618 training session titles. Residents will have an academic training day every 3 weeks during 9 months for each TCMS year., Conclusion: A detailed, MF-specific consensus has been developed by majority of medical specialties. It will be a learning base for learners, a reference for supervisors and TCMS teachers.

The Drug Rash with Eosinophilia and Systemic Symptoms (DRESS) syndrome can be potentially life-threatening. The diagnosis is sometimes difficult since the clinical manifestations may be incomplete or non-specific. Insulinoma is a rare functioning neuroendocrine tumor (NET) of the pancreas. Medical therapy may be needed when surgery is contraindicated, delayed or refused. Diazoxide is widely used to control hypoglycemia in patients with insulinoma. We report a clinical case of an insulinoma in a 85-year-old patient treated with diazoxide with a fatal outcome due to a delayed diagnosis of a DRESS syndrome. This is the first case of DRESS syndrome reported after using diazoxide for insulinoma treatment in our knowledge., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Lassoued, Alaya, Arfa, Korbi, Lassoued, Amor, Zaouali, Farhat, Chelly and Habib Sfar.)

Summary: Autoimmune polyglandular syndrome (APS) type 2 is characterized by the presence of Addison's disease (AD) along with autoimmune thyroid disease and/or type 1 diabetes. APS type 2 is known as Schmidt's syndrome when autoimmune adrenal insufficiency is associated with chronic lymphocytic thyroiditis. We report a very rare case of a 28-year-old female patient who had Schmidt's syndrome revealed by a thyroid storm (TS) concomitant with an acute adrenal crisis. The onset of AD resulted in a surgical emergency. The patient presented with cardiogenic shock and an acute abdomen. The precipitation factor was Hashitoxicosis presented as TS. This life-threatening condition was successfully reversed with aggressive medical therapy based on antithyroid drugs and intravenous glucocorticoids. This hyperthyroid phase lasted for a period of 8 months. The patient eventually developed hypothyroidism, suggesting that Hashimoto's thyroiditis was the most likely diagnosis. She was started on levothyroxine replacement therapy and remained euthyroid on levothyroxine. The case we describe had several diagnostic pitfalls that are discussed both at the start as well as during the evolution., Learning Points: Autoimmune diseases can appear concomitantly or succeed each other over time. The clinician must be vigilant to detect these diseases in time in order to avoid a misdiagnosis of a life-threatening emergency such as adrenal insufficiency or thyroid storm. Thyroid storm is an uncommon but life-threatening manifestation of hyperthyroidism. Diagnosis is dependent on clinical symptoms, and no specific laboratory tests are available. Glucocorticoids should be used in the treatment of thyroid storm because they have an inhibitory effect on peripheral conversion of T4 to T3. In patients who have severe thyrotoxicosis, especially in conjunction with hypotension, treatment with glucocorticoids has become standard practice because of the possibility of relative adrenal insufficiency or the possibility of undiagnosed Addison's disease. The differential diagnosis of hyperthyroidism can be challenging. Graves' disease can be discussed in view of the severity of the clinical presentation and the prolonged duration of the hyperthyroid phase. Hashitoxicosis is the initial hyperthyroid phase in chronic autoimmune thyroiditis. The hyperthyroid phase is always followed by definitive resolution, with persistent euthyroidism and no hyperthyroid relapses. Synthetic antithyroid drugs may be prescribed during the hyperthyroid phase of Hashimoto thyroiditis if the clinical presentation is severe and the duration of the hyperthyroid phase is prolonged.

One of the difficult challenges in endocrinology is the etiological diagnosis of isolated thickened pituitary stalk (PS). We report the case of a woman in whom a thickened PS was diagnosed following the onset of central diabetes insipidus revealed by polyuria-polydypsia syndrome of late pregnancy and postpartum. The pituitary exploration showed panhypopituitarism with disconnecting hyperprolactinemia. An etiological investigation for an inflammatory, granulomatous or tumour cause was carried out, but was negative. Postpartum lymphocytic hypophysitis was then retained. However, the course was puzzling with a control pituitary MRI showing disappearance of the PS thickening with paradoxical appearance of a supra-pituitary tumour, the biopsy of which concluded of being a Langerhansian histiocytosis. This paradoxical sequence is unusual and has not been reported before. It called into question the autoimmune lymphocytic origin of the thickened PS, initially considered, and raised the likelihood of a causal relationship between this PS thickening and Langerhansian histiocytosis.

Introduction: The clinical requirements and the indication of the Synacthen test are increasing. The objective of our study is to determine a baseline cortisol level that reliably predicts the response to Synacthen test in a low-risk group of patients., Materials and Methods: We performed a cross-sectional analysis of all Synacthen tests conducted between January 2017 and June 2018. The diagnostic accuracy of basal cortisol levels as a predictor of an adequate response to Synacthen test was evaluated by ROC curve analysis., Results: One hundred and fifty-three patients were included. A baseline cortisol level <40 ng/mL had a sensitivity of 100% but a specificity of 5.8% for the failure of the Synacthen test, while a baseline cortisol level> 147.5 ng/mL showed a specificity of 100% but a sensitivity of 1.2% for an adequate response to the Synacthen test. According to the ROC curve, the optimal baseline cortisol level for predicting an adequate response to the Synacthen test was 85 ng/mL with an AUC of 0.808 (95% CI [0.738-0.877])., Conclusion: We propose a basal cortisol level assay as a first step in the evaluation of patients with suspected adrenal insufficiency., Competing Interests: The authors declare no conflict of interest., (© 2022 The Author(s).)

Introduction: Graves' disease (GD) is a common autoimmune disorder. Graves'orbitopathy (GO) is its most common extrathyroidal manifestation. It is rare but may reveal the disease., Aim: To describe the demographic, clinical and therapeutic features of GO., Methods: We carried out a retrospective and descriptive analysis of 82 patients with GO. This study was conducted in Ophthalmology and Endocrinology departments of Taher Sfar University Hospital in Mahdia, between January 2010 and December 2017. GD patients diagnosed with GO were included., Results: The mean age was 36.17 years ± 12.81. Patients aged 19-40 years had the highest rate of GO. The male-to-female ratio was 0.49. Family history of autoimmune thyroid disease was present in 15% and associated autoimmune disease in 4% of cases. Smoking was seen in 71% of patients. The onset of GO was simultaneous with onset of GD in 45%, before in 21% and after the onset of GD in 34% of cases. GO was bilateral in 76% of patients. The most common ocular symptoms were prominent eyes (55% of patients), ocular pain (11%) and diplopia (41%). Proptosis and upper eyelid retraction were the most common clinical signs (93% and 90% respectively). Dysthyroid optic neuropathy was present in one eye, keratitis in one eye and glaucoma in five eyes. Severe disease was noted in 11% and active disease was present in 7% of patients. CT-scan and magnetic resonance imaging scan (MRI) were performed in 48% and 42% of cases respectively. Proptosis was the most common radiological sign. Thyroid dysfunction was managed with anti-thyroid medication only (59%), thyroxine replacement (37%), radioactive iodine (35%) and thyroidectomy (6%). 20% of patients received corticosteroids. One patient required immunosuppressive therapy., Conclusion: GO is a complex disease, which is associated with impaired quality of life and can potentially result in sight-threatening complications. Appropriate diagnosis, convenient therapy and a regular follow-up are necessary to improve results and avoid the aesthetic and functional sequelae.

Background: Diabetic foot is an underestimated and redoubtable diabetes complication. The aims of our study were to assess diabetic foot ulcer risk factors according to International Working Group on the Diabetic Foot (IWGDF) classification, stratify patients into risk categories and identify factors associated with higher-risk grade., Methods: Cross-sectional setting over a period of 07 months, patients were randomly selected from the diabetic outpatients attending our unit of diabetology. Questionnaire and clinical examination were made by the same physician. Patients free of active foot ulcer were included., Results: Among 230 patients evaluated, 10 had an active foot ulcer and were excluded. Five patients (2.27%) had a history of foot ulcer and 3(1.36%) had a lower-limb amputation. Sensory neuropathy, as measured by the 5.07(10 g) Semmes-Weinstein monofilament testing, was present in 23.63% of patients, whereas 36.82% had a peripheral arterial disease based on clinical findings, and 43.63% had foot deformities. According to the IWGDF classification, Group 0: 72.72%, Group 1: 5.9%, Group 2: 17.73% and Group 3: 3.63%. After univariate analysis, patients in higher-risk groups were significantly more often female, had higher age and BMI, longer diabetes duration, elevated waist circumference, low school level, retinopathy and hyperkeratosis. Multivariate logistic regression analysis identified 3 significant independent factors associated with high-risk groups: retinopathy (OR = 2.529, CI95 [1.131-5.655], p = 0.024), hyperkeratosis (OR = 2.658, CI95 [1.222-5.783], p = 0.014) and school level (OR = 0.489, CI95 [0.253-9.44], p = 0.033)., Conclusions: Risk factors for foot ulceration were rather common in outpatients with diabetes. The screening of patients at risk for foot ulceration should start early, integrated with sustainable patient education.

Corticosurrenaloma is a rare malignant tumor of the adrenal gland that often secretes corticosteroids, sex steroids and precursors. Aldosterone-producing corticosurrenaloma is very rare, accounting for 1 case/10million inhabitants. We report the case of a 38-year old man presenting with severe arterial hypertension associated with deep hypokalaemia (2.2 mmol/L). Exploration showed primary hyperaldosteronism (aldosterone = 2645 pmol/l, aldosterone/renin ratio = 327 pmol/MUI), with hypersecretion of glucocorticoids. Abdominopelvic CT scan revealed left poorly differentiated and heterogeneous adrenal mass measuring 9cm, infiltrating into the surrounding adipose tissue and the diaphragm, extending into the left renal vein, with regional adenopathy and hepatic nodule measuring 4cm. The patient underwent radical nephrectomy followed by right hepatectomy two months after resulting in remission. A year after the patient developed lung metastases. This study highlights that corticosurrenaloma should be suspected in patients with primary aldosteronism despite its rarity., Competing Interests: Les auteurs ne déclarent aucun conflit d'intérêts.

The Erdheim Chester disease is a rare form of non Langerhans cell histiocytosis. Its rarity and its unspecific clinical presentation, make that its diagnosis is often delayed. We report the case of a 50 years old female who has an Erdheim Chester disease, revealed by a central diabetes insipidus with thickening of the pituitary stalk, with associated gonadotropin deficiency. The Erdheim Chester disease was suspected because of the association with other evocative systemic lesions: eyelid xanthelasmas and bone lesions in metaphyseal-diaphyseal region of the upper and lower ends of both femurs and tibias on bone scan. Confirmation of the diagnosis was initially difficult and delayed, with initially inconclusive cutaneous and bone biopsies. It is the histological re-reading with immunohistochemical study of the bone biopsies which allowed the diagnosis by showing histiocytes positive for the CD68 and negative for the CD1a and the protein S100. The diagnosis was made with a delay of 3 years. In conclusion, although rare, Erdheim Chester disease should be suspected in front of a set of clinical and radiological arguments. Diagnostic confirmation is based on histological and especially immunohistochemical studies.

Competing Interests: Les auteurs ne déclarent aucun conflit d'intérêts.

Various endocrine manifestations are commonly described in myotonic dystrophy (MD), including primary hypogonadism, diabetes mellitus, and thyroid and parathyroid dysfunction. We describe a 46-year-old woman with a family history of MD with her son. She was diagnosed with cardiac arrhythmia and required the implantation of a pacemaker. She was noted to have a bilateral cataract. She complained of muscle weakness, diffuse myalgia, and palpitation. The electromyography (EMG) showed myotonic discharges. Laboratory tests showed high serum calcium 2.83 mmol/L, serum phosphate 1.2 mmol/L, parathormone 362.5 pg/mL, thyroid stimulating hormone TSH 0.02 mIU/L (normal range: 0.34-5.6 mIU/L), FT4 21.17 ng/mL, and negative anti-thyroperoxidase antibodies. Cervical ultrasound revealed a multinodular goiter. The 99mTc-MIBI scintigraphy localized a lower right parathyroid adenoma. The clinical data, the family history of MD, EMG data, and endocrine disturbances were strongly suggestive of MD associated with hyperthyroidism and primary hyperparathyroidism.

Background: Non-ketotic hyperglycemia (NKHG) may increase the probability of seizures and movement disorders., Methods: We describe a series of 14 elders admitted for seizures and movement disorders linked to NKHG., Results: Twelve patients developed motor seizures and two others movement disorders. Glucose levels varied 9.28 to 32 mmol/l, while osmolarity values varied from 302.28 to 328 mosmol/l. All patients responded well to insulin therapy and four of them needed anti-epileptic drugs., Conclusion: Seizures or movement disorders in elderly with NKHG could be misdiagnosed as neurological diseases. Blood glucose must be audited whenever patients with seizures or movement disorders are encountered, as the condition may quickly resolve when NKHG is controlled.

Diabetic muscle infarction (DMI) is a rare complication of long-standing poorly controlled diabetes mellitus. We herein describe the case of a 56-year-old man with a 10-year history of poorly controlled type 2 diabetes mellitus with multiple microvascular and macrovascular complications who presented with the sudden onset of left thigh pain and swelling. MRI suggested muscle infarction. A muscle biopsy demonstrated coagulation necrosis in the skeletal muscle with inflammation and infarction in the walls of small blood vessels. Physicians should consider DMI in the differential diagnosis of patients with diabetes who present with painful, swollen muscles without systemic signs of infection.

Introduction: Vasculitis associated to antineutrophil cytoplasmic antibodies is a rare complication of therapy with antithyroid medication. They were mainly reported in patients treated with propylthiouracil and rarely with benzylthiouracil., Case Report: We report a 22-year-old woman treated with benzylthiouracil for Graves' disease, who developed a vasculitic skin involvement. The presence of antineutrophil cytoplasmic antibodies with anti-myeloperoxidase specificity was documented. The discontinuation of benzylthiouracil was followed by a complete disappearance of skin lesions and of antineutrophil cytoplasmic antibodies., Conclusion: To our knowledge, only ten cases of antineutrophil cytoplasmic antibodies vasculitis induced by benzylthiouracil have been previously reported in the literature. Our patient was characterized by the occurrence of isolated cutaneous vasculitis, without renal involvement. Early discontinuation of benzylthiouracil may have prevented the occurrence of severe visceral complication., (Copyright © 2013 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.)

We report the case of a 27 year-old man with symptoms of severe hypothyroidism that have evolved since his adolescence. He was found to have an 11 mm right lobe thyroid nodule. On thyroid ultrasound, the nodule was solid, heterogeneous with markedly atrophic hypoechoic surrounding tissue. Thyroid scintigraphy revealed increased (99m)Tc pertechnetate and (131)I uptake, with persistence of (131)I hyperfixation after 24 h. There was no fixation of the radiotracer in the remaining tissue. Thyroid function tests found TSH > 100 mIU/l, free thyroxine level 0.9 pmol/l (normal values 11.5-21.8), anti-thyroid peroxydase antibodies strongly positive > 1,000 IU/ml, and anti-thyroglobulin antibodies negative. One year after levothyroxine therapy, the nodule decreased to 40% of its original size. Hashimoto's thyroiditis may present as a single hot nodule and severe hypothyroidism. Data of reported cases suggest that the hot nodule corresponds to a localized hyperplasia of the less diseased portions of the thyroid. Chronic stimulation by TSH may have promoted nodular growth and isotopes uptake., (Copyright © 2010 Elsevier España, S.L. and SEMNIM. All rights reserved.)

A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, metabolic syndrome, unilateral renal aplasia, and hypergonadotropic hypogonadism, and ruled out mitochondrial cytopathy and leucodystrophy. Karyotype study showed a 48XXYY chromosomal type. Renal aplasia and pigmentary retinitis have not been described in 48XXYY patients. They may be related to the chromosomal sex aneuploidy, or caused by other genetic aberrations in light of the high consanguinity rate in the patient's family.

We carried out a protein and genetic investigation of the factor H gene mutations within two families presenting with a diagnostic suspicion of atypical hemolytic uremic syndrome (aHUS). The results within the patients of the first family revealed a factor H-deficiency. Direct sequencing allowed the detection of a 4-nucleotide deletion in the factor H gene. This deletion was found as the homozygote form in the proband and as the heterozygote form in the parents. Protein and functional analyses of the complement system were normal in all members of the second family. However, the molecular investigation for the father showed the presence of an amino acid substitution in the FH gene. Unfortunately, his two affected children died without being investigated for mutations. The functional consequences of these abnormal proteins are still to be demonstrated., (2010 Halvorson et al, publisher and licensee Dove Medical Press Ltd.)

Background/aim: To investigate the possible association between the polymorphism of the CTLA-4 exon 1 +49 A/G and susceptibility to Crohn's disease (CD) and ulcerative colitis (UC) in the Tunisian population., Methods: The +49 A/G dimorphism was analyzed in 119 patients with CD, 65 patients with UC, and 100 controls by the polymerase chain reaction-restriction fragment length polymorphism method., Results: Significantly higher frequencies of the CTLA-4 +49A allele and A/A homozygous individuals were observed in patients with CD when compared with controls (pc = 0.0023 and pc = 0.0003, respectively). Analysis of CTLA-4 A/G polymorphism with respect to sex in CD showed a significant difference in A/A genotypes between female patients and controls (pc = 0.0001 and pc = 0.038, respectively). There were no differences in the subgroups of patients with CD., Conclusions: Forty-nine A alleles and AA genotype are associated with CD susceptibility in Tunisians. Other genes involved in the T-cell regulation remain strong candidates for IBD susceptibility and require further investigation.