Molecular and clinical assessment of maturity-onset diabetes of the young revealed low mutational rate in Moroccan families.

Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterized by autosomal dominant inheritance. To offer an adequate patient management and therapeutic treatment for MODY patients, in addition to an early efficient diagnosis of their asymptomatic relatives, it is crucial to set an accurate molecular diagnosis. Hence, our aim was to determine the frequency of HNF1A and GCK genes among Moroccan-suspected MODY patients. Methods: Twenty suspected MODY patients were screened for HNF1A and GCK mutations using Sanger sequencing and MLPA methods. Segregation analysis of identified mutations was performed among family members. The pathogenic nature of missense variants was predicted using bioinformatic tools. Results: A total of two mutations were revealed among all patients raising the diagnostic rate to 10%. We identified a large novel GCK deletion (c.209-?_1398+?del) by MLPA in one patient and a previously reported missense substitution (c.92G > A) in HNF1A gene. Conclusion: This is the first investigation to perform the molecular diagnosis of MODY suspected patients. Our findings constitute a primary contribution towards unraveling the genetic landscape involved in the pathogenesis of MODY disease in Morocco.

Insular thyroid carcinoma in a young Moroccan man: Case report and review of the literature.

Introduction: Insular thyroid carcinoma (ITC) was defined as a rare malignant thyroid cancer standing in an intermediate position between the well-differentiated (papillary and follicular) and the anaplastic thyroid carcinomas. The incidence was estimated around <1% and 10% worldwide. Despite its rarity, it remains the main cause of death from non-anaplastic follicular cell-derived thyroid cancers. Case presentation: A 27-year-old single male admitted for a history of a thyroid nodule and intrathoracic extension; with local mass effect, deviating the brachiocephalic trunk to the right. He underwent a total thyroidectomy. Histopathological examination showed a poorly differentiated insular thyroid carcinoma. Radioactive iodine-131 therapy was administred at a dose of 100 mCi, and the patient was maintained on TSH-suppressive therapy. Ultrasensitive Thyroglobulin measurement after thyroxine withdrawal, taken 2 years after radioactive iodine treatment was undetectable as well as thyroid antithyroglobulin antibodies. Conclusion: Our clinical case would enrich the global registry of insular thyroid carcinomas' cases. The main challenge is early detection, aggressive intervention, and close follow-up of affected patients. The advancement in ultra-deep sequencing technologies, will contribute in the development of novel targeted therapies aiming to reduce morbidity and mortality and improve the outcomes in PDTC patients as well.

Flexible insulin therapy improves metabolic control and decreases the risk of hypoglycemia in type 1 diabetic patients.

INTRODUCTION: flexible insulin therapy (FIT) is considered as a crucial turning point in the management of type 1 diabetes. The purpose of this study was to evaluate the impact of this optimum therapeutic approach on improving metabolic control and decreasing hypoglycemic events in patients with type 1 diabetes. METHODS: thirty-seven type 1 diabetic patients were included in a five days training programme of FIT. They had an HbA1c between 7.5 and 10%. Those patients were enrolled in a flexible insulin program and we evaluate clinical and metabolic parameters (glycated haemoglobin (HbA1c), hypoglycemic events, body mass index (BMI) and the rate of blood glucose measurements) before the course of FIT and 3, 6 and 9 months after the course. RESULTS: over a 9 months period of the study, the frequency of mild hypoglycemia decreased from 11.7 to 1.7 episodes/3 months (p = 0.005). The baseline HbA1c value improved by 1% at 3 months with an increase of 0.2% at 6 months, which remained unchanged at 9 months (p = <0.0001). Patients who were poorly controlled (HbA1c ≥ 8%) improved their baseline HbA1c value from 9.2% to 8.0% (p = <0.0001). CONCLUSION: the present study confirms that a structured training programme for FIT improves glycemic control and decreases hypoglycemic events in patients with type 1 diabetes and it can be adopted in countries with weak or intermediate income (e.g. Morocco), which allows those patients to take advantages of this therapeutic approach.

Failure to Thrive Revealing a Pilomyxoid Astrocytoma: An Uncommon Case Report with Literature Review.

Pilomyxoid astrocytoma (PMA) is a freshly described figure of low-grade neoplasms encountered in early childhood. Nevertheless, its precise classification by the World Health Organization (WHO) is still debatable. Making an exact diagnosis relies on histological and immunohistochemical pathognomonic features with specific radiological findings. PMA behaves aggressively with a shorter progression-free survival, and its management is unfortunately still arguable. We describe a rare case of PMA involving the suprasellar region who displays symptoms consistent with diencephalic syndrome. The diagnosis was made by magnetic resonance imaging (MRI) focused on the hypothalamic-pituitary axis, and the patient underwent a subtotal tumor resection combined with chemotherapy. Diagnosis of brain tumors should be kept in mind in young children with generalized and severe unexplained loss of subcutaneous fat with failure to thrive after ruling out classical causes.

Clinical presentation and management of hypophysitis: An observational study of case series.

BACKGROUND: Hypophysitis is described as a rare chronic inflammatory affection of the pituitary gland. However, to date, its pathogenesis has not been completely cleared up. Clinical features are polymorphic, including symptoms related to inflammatory compression and/or hypopituitarism. Laboratory tests determine hormone deficiencies orientating replacement therapy's protocol. MRI of the hypothalamic-pituitary region is crucial in exhibiting major radiological signs such as pituitary homogeneous enlargement and gland stalk's thickening. The etiological diagnosis is still challenging without affecting the management strategy. Corticosteroids have widely been used but a close follow-up without any treatment has also been approved. CASE DESCRIPTION: In this report, seven patients with hypophysitis have been collected over a period of 6 years. The average age of our patients was 32.1 years ± 11.8 with a female predominance (71.4%). Panhypopituitarism was objective in 42.9% of cases, a combined deficiency of the hypothalamic-pituitary thyroid, adrenal and gonadal axes in 28.6% of cases. A central diabetes insipidus was noted in 42.9% of the patients. Idiopathic hypophysitis was the most common etiology. The use of long course corticosteroids was required in 28.6% when compressive signs were reported. CONCLUSION: Hypophysitis remains a rare disease with nonspecific clinical and radiological patterns. Autoimmune origin seems to be the most frequent etiology. No guidelines have been established for hypophysitis management and the evolution is still unpredictable.

Diabetic Ketoacidosis at Onset of Pediatric Type-1 Diabetes Triggered by Covid-19: An Original Case Report.

During the course of this year, scientific research has revolved around coronavirus disease 2019 (COVID-19), with much uncertainty surrounding its pathogenesis, complications, and mortality as well as limited pediatric evidence. The exact relationship between COVID-19 and new-onset type 1 diabetes, especially in children, remains an unresolved issue. Our case exhibited a unique presentation of diabetic ketoacidosis (DKA) triggering COVID-19 diagnosis at this age. A three-year-old Moroccan boy was admitted with a history of acute dyspnea accompanied by vomiting and weight loss, leading to a diagnosis of DKA. However, evident respiratory distress signs did not disappear, even though glycemic levels were normalized and acidosis resolved. The boy subsequently tested positive for SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2), with specific biological and radiological findings. Our clinical case potentially augmented the global registry of COVID-19-related diabetes (CoviDiab project) cases and provides a basis for further studies that seek to elucidate the correlation between new-onset type 1 diabetes and SARS-CoV-2 in the pediatric population.