Endocrine Abstracts

Introduction: DiGeorge syndrome is a genetic abnormality caused by a microdeletion of chromosome 22. Chromosome 22q1 1.2 microdeletion was first identified in 1992 as the common genetic anomaly associated with a range of conditions previously known as DiGeorge or velocardiofacial syndrome.Case report: A 17-year-old Moroccan male was mildly mentally challenged and had seizures from the age of 9 years. He had dysmorphic facial features, and mild tortuosity...

DiGeorge syndrome is a genetic abnormality caused by a microdeletion of chromosome 22. Chromosome 22q1 1.2 microdeletion was first identified in 1992 [1-3] as the common genetic anomaly associated with a range of conditions previously known as DiGeorge or velocardiofacial syndrome, usually presents later in childhood, often leading to hypernasal speech caused by cleft palate, submucous cleft palate, or velopharyngeal insufficiency. Both disorders share similar clinical feature...

Introduction: Pheochromocytomas are rare neuroendocrine tumors producing catecholamines, they are usually unilateral. However, they can be located bilaterally. They still pose several problems in their diagnosis if they are associated with an adrenal cyst, which is the case in our patient.Case Report: A 34-years-old male patient, his medical and family histories were non specific, admitted to the emergency room for lumbar pain, with no other associated s...

Introduction: Prader Willi syndrome is a rare and complex genetic disease, with numerous implications on metabolic, endocrine, neurologic systems, with behavior and intellectual difficulties. Many patients with PWS manifest short stature due to growth hormone deficiency. These individuals also present with hypothalamic dysfunction, leading to several endocrinopathies such as hypogonadism, hypothyroidism, central adrenal insufficiency, with reduced bone mineral density. Our cas...

Introduction: DiGeorge syndrome is a genetic abnormality caused by a microdeletion of chromosome 22. Chromosome 22q1 1.2 microdeletion was first identified in 1992 as the common genetic anomaly associated with a range of conditions previously known as DiGeorge or velocardiofacial syndrome.Case report: A 17-year-old Moroccan male was mildly mentally challenged and had seizures from the age of 9 years. He had dysmorphic facial features, and mild tortuosity...

Introduction: Ovarian steroid cell tumors are very rare, and are endowed with steroid-secreting capacity. Most often, they are virilizing. Ovarian steroid cell tumours NOS, even if are rare, should be considered in any case of hyperandrogenism and excluded if elevated androgens levels are present. Our case illustrates this exceptional entity.Case report: A 47-year-old female presented with virilism associated with severe hirsutism, frontotemporal baldnes...

Introduction: Dysgonosomies are abnormalities of the number of gonosomes X and Y. They have fewer Phenotypic repercussions than the aneuploidies involving autosomes, and are mostly viable. The 47 XYY are generally boys with normal phenotype. The prevalence is around 1 per 1000 birth boy but undoubtedly under diagnosed given the often normal phenotype associated with this chromosomal formula, in addition to the lack of large-scale studies. There is no gonadal dysgenesis and oft...

Introduction: Ectopic thyroid tissue can be found anywhere along the normal path of thyroid descent, but is most commonly found at the base of the tongue, in which case it may be referred to as a lingual thyroid. Although the patients are usually asymptomatic, it can lead to symptoms such as dysphonia and dysphagia. We present a child patient with a lingual thyroid resulting in severe dysphagia that was cured surgically.Case reports: An 4-year-old male c...

Background and aims: The diabetic hand infection is less reported in the literature. Therefore, it is easily ignored and underestimated resulting in increased morbidity among the diabetic population. The aim is to determine the clinical and therapeutic characteristics in our hospitalized patients.Materials and methods: All hand infection patients admitted to the Department of Diabetes and Endocrinology at Oran University Hospital center during 10 years w...

Aim: Egypt is among the world’s top 10 countries in terms of the highest number of people with diabetes. Charcot foot is a serious complication that affect bones, joints, and soft tissues of the foot or ankle. Although the etiology is linked to different inflammatory markers, yet not clear. Recently, an association between two polymorphisms (1181G > C and 245T > G) of the osteoprotegerin (OPG) gene and Charcot was suggested. The aim of this study was to explore p...