Endocrine Abstracts

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: 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: 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...