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: Primary hyperparathyroidism is a frequent pathology, its association with papillary thyroid carcinoma is rare.Case Report: A 53 year old patient was admitted for management of primary hyperparathyroidism. The biological work-up showed a blood calcium level of 120 mg/l, parathyroid hormone (PTH) 4 times the normal range and hypophosphatemia. Cervical ultrasound showed a right parathyroid nodule with thyroid nodules classified Tirads 4, MIBI ...

Introduction: Cushing’s disease is characterized by an endogenous hypercortisolism related to a pituitary adenoma, its association with an empty sella turcica is exceptionally rare.Case report: A 55 year old diabetic patient with hypertension was admitted for investigation of Cushing’s syndrome. Clinical examination found facial and truncal obesity with facial erythrosis, capillary fragility with multiple ecchymoses, proximal amyotrophy of the ...

Introduction: The association of papillary carcinoma with medullary thyroid carcinoma may in rare cases be found in some members of families with multiple endocrine neoplasia type 2a (MEN 2a).Case Report: A 38-year-old patient with a family history of papillary thyroid carcinoma (PTC), operated for multinodular goiter classified Tirads 4 by total thyroidectomy, the anatomopathological examination concluded to a lobar medullary thyroid carcinoma (MTC) of ...

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...