ESPE Abstracts

Background: 16 year old female neonate presented with neonatal diabetes, congenital hypothyroidism and sepsis.Objective and hypotheses: To evaluate the neonate for a common cause of neonatal diabetes, congenital hypothyroidism and sepsis and to explore for the best modality of management, including a possible role for sulphonylureas.Method: The neonate born of 3rd degree consanguinity was admitted and started on insulin infusion an...

Background/Aims: 46,XY gonadal dysgenesis (GD) is classified as complete (CGD) or partial (PGD) depending on gonadal morphology and function. In contrast to the typical female external genitalia in CGD, the phenotype of PGD is variable depending on androgen production. A diagnosis of PGD is based on clinical/biochemical features, gonadal histology and genetic findings. The aim of this study is to characterise these features, particularly histological, in a lar...

Background: Compared to children without the disease, children with food allergy are stunted, which is positively correlated with the amount of food eliminated and the duration of the diet.Objective: To compare the effect of an elimination diet on growth between children with cow milk allergy and those who are healthy as control subjects.Subjects and Methods: This study was carried...

Bardet-Biedl syndrome (BBS) is a multiorgan genetic disease which is a part of ciliopathies. The HAS (Haute Autorité de santé) published in March 2019 a new National Diagnostic and Care Protocol for Bardet Biedl syndrome. However, in practice, we face the difficulties of screening and multidisciplinary care of different complications.We report our experience with siblings composed of an eight-year-old boy and an 18-month-old girl suffering from...

Introduction: In girls, precocious puberty is defined as the sign of secondary sexual characteristics occurring before the age of 8 years in Caucasian girls. Type 1 diabetes (T1D) is a rare association with precocious puberty. We discuss through this case, the involvement of type 1 diabetes mellitus in the onset of early puberty from a review of the literature.Observation: We report the case of precocious puberty in a 6-year-old girl followed for T1D sin...

Background: Continuous Glucose Monitoring (CGMS) is a useful method to detect the variability of glucose fluctuations and offers the opportunity for better assessment of glucose homeostasis in TM patients and response to therapy.Objective and hypotheses: Does real-life monitoring of blood glucose add to the therapeutic approach to patients with TM who have glycemic abnormalities?Method: In two thalassemic adolescents with glycemic ...

Background: Iron deficiency anemia (IDA) causes detrimental effects on physical growth which is attributed to poor appetite, altered endocrinologic profile and neurotransmitter metabolism consequent to iron deficiency.Objective and hypotheses: To investigate the iron status of preschool children with IDA and its association with the degree of growth retardation at presentation, and to detect the effect of iron supplementation on growth velocity (GV) over...

Background: Persistent Müllerian duct syndrome (PMDS) is a relatively rare autosomal recessive disorder of sex development (DSD), characterized by the presence of Müllerian duct derivatives in 46,XY phenotypic males. PMDS is due to mutations in the AMH gene or its type II receptor gene AMHR2. To date; more than 50 different mutations of the anti-Müllerian hormone (AMH) gene have been reported.Case report: Here, we report a novel mutation o...

Background: Polycystic ovary syndrome (PCOS) is a common reproductive endocrinopathy in women of childbearing age, affecting 5–10% women in this age group. Its suggestive cardinal features are hyperandrogenism, ovulatory dysfunction and/or polycystic ovary appearance. The diagnostic gold standard tool is pelvic ultrasound (PUS) which may be limited in overweight and obese adolescent girls.Objective and hypotheses: To evaluate the contribution of pel...

Introduction: Peroxisomal biogenesis disorders - Zellweger Syndrome Spectrum (PBD-ZWS) are rare disorders involving multiple systems including the central nervous system, adrenals, liver and skeleton but hyperinsulinism is not a recognized association. We present a child with PBD-ZWS due to a novel mutation in PEX1 who developed hyperinsulinaemic hypoglycaemia (HH).Case report: A 7 month old boy presented with recurrent hypoglyc...