ESPE Abstracts

Congenital hyperinsulinism (HI) is the most common cause of hypoglycemia in children and infants. It is characterized by a dysregulation of insulin secretion from pancreatic β-cells and mostly associated with recessive inactivating mutations in the β-cell ATP-sensitive potassium (KATP) channel genes – KCNJ11 and ABCC8. Dominantly inherited mutations in these genes are usually associated with mild forms of diazoxide responsive HI. Rec...

Background: Haemopoietic stem cell transplantation (HSCT) has become the treatment of choice for many inherited and acquired pediatric disorders. Cure is not without consequences, and HSCT survivors are at risk of early mortality and developing endocrine complications. Thyroid is highly susceptible to damage from the conditioning therapy for HSCT. The aim of this study is to evaluate the percentage and risk factors of thyroid dysfunction and risk factors of it...

Background: Persistent Müllerian duct syndrome (PMDS) is a Disorder of Sex Development (DSD) caused by mutations in genes encoding anti-Müllerian hormone (AMH) or its type II receptor (AMHR2) with autosomal recessive transmission. Objective: To report a case of transverse testicular ectopia (TTE), associated with PMDS, initially presented as an obstructed inguinal hernia.Case presentation: An 18- days- old male infant, wi...

Background: The prevalence of MODY2 in the gestational diabetic population has been estimated to be approximately 2%. Risk of macrosomia in GCK/GDM cases depends on maternal glycemic control and fetal mutation status. However, the fetal genotype is unknown before birth. We assessed the effects of insulin therapy on the birth weight of children born to mothers with GCK mutations.Objective and hypotheses: The study included 38 patients with GDM due to GCK ...

Objective: To study structure disorders of sex development (DSD) 46,XY by one center.Subjects and Methods: It was included 60 patients with diagnosis DSD 46,XY at birth to 18 years. For all patients was conducted structural evaluation of the external (by External Masculinization Score, EMS, 0-12) and internal genitalia (by pelvic ultrasound, n=60, laparoscopy, n=20), hormonal research (testoster...

Background: Hetero- and homozygous mutations in Steroidogenic Factor1 (SF1, NR5A1) cause 46,XY and 46,XX disorders of sex development (DSD), azoospermia, and primary ovarian insufficiency. NR5A1 is also involved in embryonic spleen development, by transactivation of T-cell Leukemia Homeobox 1 (TLX1). Hypo- or asplenism have occasionally been observed in DSD patients with NR5A1 mutations.<p clas...

Background: Neonatal diabetes is a rare disease having usually a genetic origin. Defects in KCNJ11, ABCC8, INS, GCK, and PDX1 genes are more frequent and may lead non-transient, non-syndromic neonatal diabetes, whereas defects in PTF1A, FOXP3, EIF2AK3, GLIS3, RFX6, and NEUROD1 genes are very rare and may lead neonatal diabetes as a part of a syndrome.Objective and hypotheses: We present a patient with GLIS3 ge...

Objective: The aim of the study was to describe the etiologic diagnosis, clinical characteristics in children with 46,XY disorder of sexual development (DSD).Methods: The 125 46, XY patients were included the retrospective study. The definitive diagnosis was made by presentations and clinical findings, gonadal morphology and genital anatomy of patients, basal and stimulated hormone results, imaging methods and molecular ...

Traditional medical management of children born with atypical genitals includes genital surgery during early childhood. Young children cannot give informed consent and surgery is usually undertaken after a decision made by the multidisciplinary team with parental input. Long-term outcomes are uncertain and there is scanty research supporting the benefits of surgery on physical or mental well-being. Adult patients clearly describe the distress of multiple genital operations dur...

Background: Differential diagnosis between XY partial (PGD) and mixed gonadal dysgenesis (MGD) was initially established by histological evaluation; however, when there is a 45,X lineage there are differences not only in clinical aspects but also in prognosis.Objective and hypotheses: The aim of this work was to analyze clinical picture of patients with genital ambiguity due to testicular dysgenesis, with and without a 45,X lineage, and compare these con...