ESPE Abstracts

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: Thyroid autoimmunity in chronic urticaria is a growing process and maybe manifested before concomitant with, or several years after the appearance of the urticaria. The association of chronic urticaria with autoimmune thyroid disease has frequently been reported in adults. Limited cases have been reported in children.Case Report: Here we describe an eleven years old girl. Who was born to non-consanguineous ...

Introduction: Growth without growth hormone (GWGH) is a rare phenomenon described in patients with hypothalamic structural pathology who present a normal growth rate in spite of growth hormone (GH) deficiency and low concentrations of insulin-like growth factor-1 (IGF-1). Possible aetiologies involve hyperinsulinaemia, hyperprolactinaemia or hyperleptinaemia; however, the exact mechanism is still unknown.Objective: We ai...

Objective: Somatic mutations in the USP8 gene were discovered as the most common genetic defects in corticotropinomas with a frequency of 30 to 60% in adult patients. With regard to pediatric patients, establishing prevalence of USP8 mutations is still challenging due to the rarity of CD incidence in childhood.Aim: To determine the frequency of somatic genetic drivers of CD in a cohort of pediatric patients.<p class=...

Background: Klinefelter Syndrome (KS) is the most common chromosomal anomaly in males associated with infertility. Advances in assisted reproductive medicine have made conception possible for some men with KS, with increasing scientific interest gathered around semen cryopreservation and testicular biopsy for sperm extraction (TESE).Objectives: This project aims to examine the current practice in a paediatric tertiary ho...

Neonatal thyrotoxicosis is rare and most of the cases are secondary to maternal Graves’ disease. It is usually transient, but can be associated with significant morbidity and mortality if not recognized promptly and treated adequately. We report a case of a 20-day-old female infant who developed thyrotoxicosis with irritability, tachycardia, and relatively poor weight gain. She was born to a mother who took levothyroxine during pregnancy after undergoing a thyroidectomy ...

Introduction: Gonadectomy may be indicated in people with differences or disorders of sex development (DSD). Based on historical data from the International-DSD (I-DSD) Registry that showed considerable practice variation, this I-DSD care quality improvement project seeks to determine, through prospective surveillance, the frequency of gonadectomy in individuals with DSD internationally.Methods: All existing I-DSD centre...

Recent years have seen significant progress towards defining the genetic aetiology of neonatal diabetes with >20 subtypes identified. It is likely that all cases of neonatal diabetes result from a single gene disorder since markers of autoimmunity associated with type 1 diabetes are rare in patients diagnosed before 6 months.Heterozygous activating mutations in the KCNJ11 and ABCC8 genes encoding the Kir6.2 and SUR1 subunits of the ...

Induced overexpression of defined transcription factors has been shown to have a directing effect on the differentiation of embryonic stem cells (ESCs) into specific cell types. Nevertheless, protocols promoting coordinated self-assembly of differentiated cells into distinct morphological units with functional properties reminiscent of organs and tissues in vivo are still very sparse. Our group recently reported efficient rescue of hypothyroidism in athyroid mice tran...

6q24 methylation defects are the most common cause of Transient Neonatal Diabetes Mellitus (TNDM). The clinical picture is one of impaired insulin secretion, small for gestational age and diabetes mellitus aged <6 months. This case illustrates the fluctuation between both hyper- and hypoglycaemia that can been seen in 6q24 methylation defects. A term, small for gestational age baby boy was noted to have hypoglycaemia (BSL 1.8 mmol/l) at 1.5 h of life which resolved with or...