Searchable abstracts of presentations at key conferences in endocrinology

ea0081ep126 | Adrenal and Cardiovascular Endocrinology | ECE2022

Disorders of sexual development due to congenital adrenal hyperplasia

Outtaleb Fatima Zahra , Tazzite Amal , Dehbi Hind

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...

ea0073aep590 | Reproductive and Developmental Endocrinology | ECE2021

Turner syndrome with isochromosome Xq (about two observations)

Outtaleb Fatima Zahra , Nora Imelloul , Hind Dehbi

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...

ea0081ep2 | Adrenal and Cardiovascular Endocrinology | ECE2022

Limb-girdle muscular dystrophy type 2J: case report

Outtaleb Fatima Zahra , Tazzite Amal , Gazzaz Bouchaib , Dehbi Hind

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...

ea0081ep477 | Diabetes, Obesity, Metabolism and Nutrition | ECE2022

Globoid cell leukodystrophy: case report and literature review

Outtaleb Fatima Zahra , Tazzite Amal , Gazzaz Bouchaib , Dehbi Hind

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...

ea0090ep449 | Diabetes, Obesity, Metabolism and Nutrition | ECE2023

Sulfite oxydase deficiency encephalopathy: Description of a new pathogenic mutation in SUOX gene

Outtaleb Fatima Zahra , Amal Tazzite , Bouchaib Gazzaz , Hind Dehbi

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...

ea0063p913 | Diabetes, Obesity and Metabolism 3 | ECE2019

Blood pressure objectives in diabetic patients: about 588 cases

Fennoun Halima , Outtaleb Fatima-Zahra , El Aziz Siham , Chadli Asma

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...

ea0081ep579 | Endocrine-Related Cancer | ECE2022

Bilateral localization of Leydig tumor in the testicles: Case Report

Outtaleb Fatima Zahra , Alami Amin , Bouchbika Zineb , Benchakroun Nadia , Jouhadi Hassan , Tawfiq Nezha , Sahraoui Souha , Benider Abdellatif , Dehbi Hind

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...