ESPE Abstracts

Aggrecan, encoded by the ACAN gene, is the main proteoglycan component in the extracellular cartilage matrix. A heterozygous ACAN mutation has been reported as a major cause of idiopathic short stature, it causes an accelerated bone age maturation and premature growth cessation. Recently, the effectiveness of GH treatment for achieving an appropriate adult height has been reported in several cases with ACAN mutations. We report the case of a 3 years and 2 months old boy, with ...

Introduction: Endocrine complications observed in patients with thalassemia major (TM) are mainly secondary to martial overload. Hypoparathyroidism (HPT) is a late and rare complication, typical of the 2nd decade of life in transfusion-dependent thalassemia patients (TDT). It is usually associated with other iron overload conditions (diabetes, hypogonadism, heart failure, etc.). The incidence of PTH varies from 1.2% to 20% depending on the center. Men are more...

Introduction: Beta thalassemia major (BTM), a hereditary haemoglobinopathy due to a deficiency in the synthesis of beta-globin, leads in the homozygous state to severe anemia requiring regular transfusions associated with chelator treatment. The endocrine complications encountered in BTM, secondary to martial overload by direct damage to the glandular parenchyma, continue to be observed in our consultations, although early and well-managed chelation can reduce...

Introduction: Patients with Turner syndrome (TS) diagnosed beyond the age of 12 years present a real challenge for therapeutic management. Indeed, compromises must be made between the progressive induction of puberty and an efficient treatment with growth hormone to have the best possible results.Patients and methods: Our study concerns 18 cases of patients followed for ST in endocrinology consultation (CHU Constantine-A...

Introduction: Turner Syndrom (TS) is one of the most common chromosomic abnormalities. It associates almost constantly an ovarian dysgenesis and a growth delay (GD). The GD is often secondary to a peripheral resistance to the growth hormone (GH). The GH deficiency (GHD) is a rare cause of growth delay, the association between these two condition is even rarer.Patients and methods: We describe here the cases of 4 patients...

Introduction: Congenital adrenal hyperplasia due to 11 beta hydroxylase deficiency, is an autosomal recessive pathology that represents 5 to 8% of congenital adrenal hyperplasia. The predominant symptoms of this disorder are androgen excess’ features, including masculinization of female newborns and precocious puberty in male children. Approximately, two thirds of patients also have hypertension, which may or may not be associated with mineralocorticoid excess, hypokale...