ESPE Abstracts

Background: Type 1 diabetes may have an influence on concentration, attention and behaviour. These effects are relevant, as they may affect school performance and later career options for paediatric diabetes patients.Objective and hypotheses: This study examined attention, concentration and behavioural difficulties in diabetic children aged 5–13 years and their association with hypoglycaemic episodes and HbA1c.Method: 48 child...

Introduction: Acromegaly is a rare disorder, developed by overproduction of growth hormone (GH) and insulin-growth factor 1 (IGF-1), in most cases based on a pituitary adenoma. The increased IGF-1 and GH levels lead to the growth of acres and organs as well as metabolic changes. When manifesting before epiphyseal closure, a giant growth develops.Case Report: A Ukrainian girl presented at the age of 14 years with enlargem...

Background: Septo-optic dysplasia (SOD) is a rare congenital anomaly, clinically heterogeneous, combining optic nerve and pituitary gland hypoplasia, midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. The diagnosis is made when two or more features of the classic triad are present. HESX1, SOX2, SOX3, FGF8, FGFR1, PROKR1, SHH, are implicated in the etiology of SOD.Objective and hypotheses: Description of a ...

Background: Congenital pituitary hormone deficiency is etiologically heterogeneous and occurs in 1:4000 live births. Of those, isolated GH deficiency (IGHD) is the most common, followed by combined pituitary hormone deficiency with or without extrapituitary anomalies.Objective and hypotheses: Description of a patient with IGHD, associated with multiple additional organ anomalies.Method: Case report, Sequencing of HESX1, SOX2</e...

Multiple Endocrine Neoplasia Type 1 (MEN1) is an inherited autosomal dominant disorder caused by mutations in the MEN1 tumor suppressor gene. Penetrance increases with age. It combines mainly hyperparathyroidism, adenomas of the pancreas and pituitary gland. The prevalence is about 2/100 000. Diagnosis in children is rare except in the case of family screening. We report the diagnosis of a familial MEN1 whose index case was an adolescent girl investigated because of hypoglycae...

Background: 46,XY patients with SF-1 mutations have sex reversal or ambiguous genitalia (with or adrenal insufficiency) due to dysgenetic testis. In most cases, a severe defect in testosterone (T) production has been found. We described here 3 cases showing the variability in T production.Results: Case 1: A was seen at the age of 17 years for primary amenorrhea. Tanner stage was B2PH3. External genitalia were normal. FSH was 55 IU/l, LH 17 IU/l,...

Background: Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infants and children.Objective and hypotheses: Recently, mutations in genes usually involved in MODY 1 and 3 have been described in HI.Method: We present here six cases of hyperinsulinism associated with MODY1 (one case) and MODY3 (four cases) and one case of HI associated with MODY5 mutation.Results: Case 1...

Background: Congenital isolated adrenocorticotrophic hormone (ACTH) deficiency (IAD) is a rare condition. It is characterized by low plasma and cortisol levels and preservation of all other pituitary hormones (2 cases described with transient partial growth hormone deficiency). The principal molecular cause is identified as TPIT mutation. We present here the case of a neonate with TPIT mutation and ACTH deficiency associated with probable growth hormone and thyrotropin deficie...

Introduction: Primary Congenital Hypothyroidism (CH) is an abnormal function of the thyroid gland present at birth. Anomalies of thyroid function are usually classified between thyroid dysgenesis, corresponding to an abnormal embryological development of the thyroid, and CH with gland-in-situ (GIS), resulting from mutations in genes involved in thyroid hormone synthesis. We report 105 patients with CH with GIS that have been referred to Angers University Hospi...

Background: Pituitary insufficiency and severe obesity are common sequelae of craniopharyngioma and its treatment. Once weekly glucagon-like Peptide 1 (GLP1) analog’s semaglutide has recently shown efficacy in adults with common obesity.Objective: We evaluated the efficacy and safety of Semaglutide, a once-weekly GLP-1 analog, in 6 children with craniopharyngioma and morbid obesity.Subjects an...