ESPE Abstracts

Background: There is wide geographic variation in the frequency of diabetic ketoacidosis (DKA) at onset of diabetes from ~15–70% in Europe and North America.Objective and hypotheses: To evaluate the frequency of DKA at the onset of type 1 diabetes (T1D) in the paediatric population seen in the Department of Pediatric Diabetology of Turin (Italy) from 1/1/2008 to 31/12/2013.Method: Data (venous pH and HCO3, season at the onset)...

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...

McCune-Albright syndrome is a rare, sporadic disorder defined by the triad of café-au-lait spots, fibrous bone dysplasia, and endocrinopathy. The diagnosis is often made on bone or endocrine involvement, but must be suspected on the particular morphology of café-au-lait spots. We report a case of McCune-Albright syndrome diagnosed on these cutaneous signs and precocious puberty. This is a 4.5-year-old girl referred by a gynecologist for a pediatric endocrinology ...

Introduction: Metabolic syndrome (MS) is a known complication of obesity. It is still unclear whether gender and puberty influence the prevalence of MS in children and adolescents.Objective: Aim of the study was to evaluate the effect of gender and puberty on the prevalence of MS and on cardiovascular risk factors (CVRF) in obese children and adolescents.Patients and Methods: 1437 obese patients (age 9.7 (2.2–17.9) ys; 660 Mal...

SHOX haploinsufficiency (SHOX-D) is a cause of disharmonic short stature and a possible genetic cause of idiopathic short stature also in familial cases. We describe clinical, hormonal and genetic characteristics of patients with SHOX-D haploinsufficiency, followed and treated in the period 2014–2017, in a single Italian centre. The Rappold score was used to screen short children, to select those who needed a genetic analysis of SHOX gene by MLPA and sequencing. We select...

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...