ESPE Abstracts

Background: There is no effective adjuvant therapy for patients with advanced ACT. YAP1, a HIPPO pathway effector, interacts with Wtn\beta-catenin pathway and plays a crucial role in the maintenance of postnatal adrenal cortex and regulates cell proliferation and apoptosis in several tissues. We recently showed that overexpression of YAP1 associates with worse prognosis in our cohort of pediatric ACT (pACT).Aim: To analy...

Background: In pediatric patients with adrenocortical tumors (ACT), morbidity and mortality rates have been extensively evaluated. However, there are almost no data on the late consequences of early exposure to high androgen levels on pubertal development and on final height (FH) in these patients.Objective: To investigate the impact of early exposure to androgen excess on gonadotropin-dependent pubertal development and on final height (...

Background: Juvenile Pagets disease (JPD), an ultra-rare, debilitating bone disease stemming from unopposed RANKL action due to loss of functional osteoprotegerin (OPG) is caused by recessive mutations in TNFRSF11B. A genotype-phenotype correlation spanning from mild to very severe forms is described.Objective and hypotheses: To describe the complexity of the human phenotype of OPG deficiency in more detail and to investigate heterozygous mutation carrie...

Background: Telomere length at birth is a major determinant of telomere length in late adulthood. However, the prenatal setting of telomere length is poorly understood. Individuals born large from non-diabetic mothers are at lower risk for later-life disorders than those born small, a feature of their longer health span being a higher lean mass that provides more muscle strength and that is already present in infancy.Objective, hypotheses & methods: ...

Introduction: Childhood obesity is associated with several complications, involving many systems. The prevalence of respiratory problems, such as obstructive sleep apnea syndrome (OSAS), is higher in obese children and adolescents. In fact, OSAS affects 13–59% of obese children and the severity is strongly associated with weight excess. Although overnight pulse oximetry (PO) can be used for diagnosing OSAS, a complete night polysomnography (PSG), which re...

Background: Hypoglycaemia is the most common and threatening complication in diabetic children. Nocturnal hypoglycaemia is mostly unrecognised and asymptomatic, but recurrent mild hypoglycaemia at night can lead to hypoglycaemia unawareness and reduced performance at daytime.Aims: To evaluate frequency and duration of nocturnal hypoglycaemia in type 1 diabetic children and to identify risk factors for such events.Patients/methods: ...

Background: Glibenclamide has proven to be efficient for patients with neonatal diabetes owing to potassium channel mutations. Anyway its pharmaceutical form is not suitable for young children or infants. The tablets dosage is too high for most infants and must be crushed and diluted before administration. We developed a suspension of glibenclamide (EMA Orphean drug designation january 2016) fitting recommendations of drug administration to allow a precise dosage and designed ...

Background: In minipuberty, the male hypothalamic-pituitary-gonadal (HPG) axis is transiently activated triggering a surge in reproductive hormones causing growth of the genitalia. Longitudinal individual growth of the infant penis during minipuberty and associations to the HPG axis and IGF-I have not been thoroughly assessed.Aim: To describe the development of penile length and width as well as their relation to serum c...

Case: A 7-year-old female revealed short bowed femurs and humeri with old fractures and bowed tibias and fibulas. Her height was 97cm and weight was 11kg. Her younger sister had the same phenotype as same as her mother. The Trio WES test showed that they all inherited from their mother's COL1A2 gene mutation (c.928G>A; p.G328S) and diagnosed Osteogenesis Imperfecta, type IV. Unfortunately, the 7-year-old girl also presents coarse face, short neck, limi...

Introduction: Neutropenia is known as a rare adverse event of anti-thyroid drug treatment (ATD) but has also been reported as pre-treatment neutropenia in Graves’ disease (GD). Studies on paediatric patients are rare. To the best of our knowledge, there are no data comparing the effects of methimazole (MMI) and carbimazole (CBZ) treatment in children on the absolute neutrophil count (ANC).Methods: We analyzed retro...