Endocrine Abstracts

46, XY disorders of sex development are rare diseases secondary to gonadal dysgenesis (GD) and disorders of androgens synthesis or action. Familial forms of GD are very rare; we report here the observations of two siblings with 46, XY GD.The first patient whose parents were relatives, raised as a girl consulted at 3 years for ambiguous genitalia, at clinical exam we found a small phallus, partial fusion of labio-scrotal folds with one orifice at the phal...

Introduction: Multiple endocrine neoplasia (MEN) are rare including MEN1:association of pituitary, pancreatic and parathyroid tumors and MEN 2 regrouping NEM2a: medullary thyroid cancer (MTC), pheochromocytoma and parathyroid tumor and NEM2b with ganglioneuromas. They’re caused by autosomal dominant mutation: MEN1 gene (MEN 1) and RET protooncogen (MEN 2).Aim: Report the phenotypic and evolutionary characteristics of MEN.Popul...

The GH deficiency (GHD) may be congenital with or without cause identified or acquired secondary to organic lesion in the hypothalamic region (HH). In all cases a magnetic resonance imaging is necessary.Aim: Investigate the causes of GHD Population and methodology GHD children were followed at the department of endocrinology. In addition to clinical examination, a testing hypophysiogramme is made with glucagon/propranolol/GH testing insulin on GH/cortiso...

Introduction: The causes of short stature are various and their frequency depends on whether we consult in pediatric or endocrinology.Although endocrine pathology is involved in a little <10% of cases, its recognition is important because it leads to a specific treatment that enhances the stature prognosis.Aim: Search etiologies statural delays observed in endocrinology and assess the frequency of GH deficiency.<p class="ab...

Leucinosis also called Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in urine with an evolution to encephalopathy and central respiratory failure if untreated. When diagnosed at birth, treatment is based on nutrition therapy aiming at rapidly reducing of toxic metabolites through dietary restriction, shifting towards and preventing or min...