ESPE Abstracts

Background: Attention-deficit/hyperactivity disorder (ADHD) is the most common neurobehavioral disorder of childhood. Type 1 diabetes (T1DM) is the most common metabolic disease in children. The treatment of T1DM requires high executive functions and requires very intensive treatment that could be an obstacle for patients with ADHD. Dual diagnosis of T1DM and ADHD might affect treatment, control and complications of T1DM. In order to prevent long-term complica...

Background: Mutations in the gene HSD17B3 encoding the 17-beta hydroxysteroid dehydrogenase 3 enzyme cause testosterone insufficiency leading to XY DSD. In this study the clinical characteristics and molecular etiology of 3 new severe XY DSD cases from consanguineous families are elucidated.Clinical report: Three female patients (2 sisters and a single unrelated female) presented at ages 0.1, 8 and 0.7 years with ambiguo...

Background: The C19MC locus microRNA gene cluster is imprinted in the placenta. Imprinted genes control prenatal development and placental functions, and are epigenetically regulated. The factors that affect the DNA methylation status of C19MC regulatory region are unknown, as is the impact of this differential methylation on the offspring’s body size.Objectives: To study in humans 1) the association of placental C19MC DNA...

Background: Puberty is reported to be impaired in children with Sickle cell Anemia (SCA). Studies about this topic are rare in Sub-Saharan regionObjective and hypotheses: Assessment of pubertal development of children with SCA compared to healthy children in Mother and Child Center, CHANTAL BIYA Foundation.Method: We matched a group of 64 children with SCA (26 males, 38 females) with 94 healthy controls aged of 8–17 years old....

Background: Timing of puberty is associated with height, cardiovascular health and cancer risk, with a significant public health impact. Previous studies estimate that 60–80% of variation in the timing of pubertal onset is genetically determined. Self-limited delayed puberty (DP) often segregates in an autosomal dominant pattern, but the underlying genetic background is unknown.Methods: We performed whole exome sequencing in 52 members of 7 families...

Background: Congenital diabetes insipidus (DI) can be due to mutations in the arginine vasopressin (AVP) gene (familial neurohypophyseal DI), the AVP receptor type 2 (AVPR2) or aquaporin 2 (AQP2) genes (congenital nephrogenic DI, NDI). The clinical manifestation of congenital NDI, especially the response to AVP, can vary greatly depending on the functional effect of the AVPR2 mutation. Here we present two male siblings with NDI and partial response to ddAVP.<p class="abste...

Objective: To describe clinical, laboratory and genetic characteristics of 42 short children from 34 consanguineous Turkish families.Design: Descriptive case series.Methods: After collecting clinical information, DNA samples were analysed in three European laboratories. In 18 children (12 families) suspected of a genetic defect in the growth hormone (GH)-insulin-like growth factor ...

Background: Paracetamol is the preferred analgesic and antipyretic during pregnancy. Experimental studies suggest that in-utero exposure to paracetamol disrupts ovarian follicle formation and future ovarian function. This may secondarily affect uterine growth. Female minipuberty is characterized by HPG activity and follicle maturation, however individual levels of reproductive hormones fluctuate considerably.Primary Aim:...

Background and Objectives: Offspring born to obese mothers are at an increased risk of chronic disease including type 2 diabetes (T2D), obesity, hypertension, cardiovascular disease (CVD), non-alcoholic fatty liver disease (NAFLD) and chronic kidney disease (CKD). This metabolic programming is produced, in part, by epigenetic changes such us DNA methylation. We postulated that obesity exposure impacts the offspring's methylome and used an epigenomic approa...

Background: Lipodystrophy syndromes comprise a large group of extremely rare diseases characterized by loss or dysfunction of adipose tissue. Due to their extreme rarity and variability, research in the field of lipodystrophy is difficult for single centres warranting larger co-operations.Methods: Therefore, the European Consortium of Lipodystrophies decided to found an international registry in 2016. This registry is ba...