Endocrine Abstracts

Disorders of sexual development are defined as any congenital condition, in which the development of the chromosomal, gonadal, or anatomical sex is atypical. Congenital adrenal hyperplasia is one of the most common etiology of those disorders, whiwh may be responsible for acute adrenal insufficiency in the neonatal period. The objectives of this case report are to underline the interest of the diagnosis and the genetic counseling for this pathology characterized by an autosoma...

IntroductionTurner syndrome is a chromosomal abnormality linked to the total or partial absence of the X chromosome. Its prevalence is 1/2500 female newborns. It constantly associates a stature delay and ovarian failure, with an increased risk of various malformations. The objectives of this study are to show the importance of the cytogenetic study in the management of patients with delayed height and / or primary amenorrhea, and to search for a possible...

Limb-girdle muscular dystrophies are a heterogeneous group of disorders regarding both their phenotypes and their underlying genetic causes. One of these defects is limb-girdle muscular dystrophy type 2J (LGMD2J), which has an unknown prevalence. Our aim is to describe clinical features an evolution of a novel case of this rare condition. Our patient is female, aged 29 from a non-consanguine family bearing features of limb-girdle muscular dystrophy. The first signs of this aff...

Krabbe disease, also known as globoid cell leukodystrophy, is an autonomic recessive genetic disorder caused by GALC mutations. GALC gene codes for galactosylceramidase, which is a lysosomal enzyme. This disorder can occur during early childhood, between the ages of 1 and 8 years old (later onset form) or during adulthood; its prevalence is estimated at 1/100 000. Nevertheless, in most cases, this disorder occurs during childhood. With this case report, our a...

Sulfite oxidase deficiency encephalopathy is a rare genetic disease, secondary to the mutation of the SUOX gene, which codes for the enzyme sulfite oxidase that catalyzes the oxidation of sulfite to sulfate, an essential process for the catabolism of sulfur amino acids. This rare disease is characterized clinically by seizures, progressive encephalopathy and lens dislocation. The objectives of this report are to describe the clinical, paraclinical and evolutionary characterist...

Introduction: Hypertension (HTA) is a common condition in patients with type 2 diabetes and is associated with a high risk of cardiovascular disease. Optimal control is the major goal of clinicians to reduce cardiovascular risk. The objective of this study is to determine the prevalence of blood pressure goals in hypertensive diabetic patients.Methods: Retrospective descriptive study including 588 diabetic patients hospitalized in the endocrinology depar...

Testicular cancer represents 1% of male tumors. The bilateral testicular tumors are very rare (1 to 2% of cases), with a histological predominance of 90–95% of germ cell tumors. The objectives of this case report are to describe the clinical, paraclinical and the management of a rare neoplasic disease of the testicle; the bilateral Leydig tumor of the testicles. It is a 57-year-old patient with a family history of different neoplasms, including ovarian and breast cancer i...