ESPE Abstracts

Background: Aldosterone synthase deficiency (ASD) is caused by biallelic inactivating CYP11B2 variants. Infants mainly present with failure to thrive and salt wasting in early infancy. Moreover, different factors may cause downregulation of aldosterone synthase and secondary deficiency.Objective and Hypotheses: We present a toddler with polyuria and polydipsia and steroid hormone precursors suggestive of ASD, bu...

Background: Normal function of the thyroid gland is essential for adequate neurological development of the fetus and child. In previous studies, associations between reduced birth weight and overt maternal and fetal thyroid dysfunction have been described. We hypothesize that also variations within the normal range of fetal thyroid function have an impact on fetal and neonatal growth.Objective: The aim of this study is to investigate whether thyroid horm...

Introduction: An optimized replacement regimen with glucocorticoids and mineralocorticoids in subjects with congenital adrenal hyperplasia (CAH) aims at preventing life-threatening salt wasting and adrenal crises, virilization and pubertal precocity, and at enabling normal linear growth.Aims: We investigated puberty and its impact on final height in children and adolescents with CAH.Patients and Methods: In a cohort of post-pubesce...

Background/aim: Sorafenib® is a multi-kinase inhibitor and one of the few systemic treatment options for patients with advanced hepatocellular carcinomas (HCCs). Resistance to Sorafenib® develops frequently and could be mediated by the NAD dependent deacetylase sirtuin (SIRT) 1, a master regulator of cellular energy metabolism and stress responses. We aimed to find out if Sorafenib® treatment depends on changes in cellular NAD le...

Background: Early growth trajectories are associated with childhood BMI and fat distribution as well as adulthood type 2 diabetes. Mechanisms by which early growth determines later adiposity remain unclear, but the effect may be mediated through adipocytokines.Objective and hypotheses: We describe the association between infant growth, adolescent fat distribution and serum adipocytokines. We hypothesize that poor or rapid early growth is associated with ...

Objective and hypotheses: The objective was to use whole-genome RNA profiling of testicular biopsies by DNA strand-specific RNA-sequencing to explore the causative role of isolated congenital cryptorchidism in azoospermia and/or infertility.Method: Fifteen cryptorchid patients, aged 7 months to 5 years, were enrolled in this study and underwent orchidopexy. During surgery, testicular tissue biopsies were collected and split in half for histological exami...

Background: Difficulties in transition of adolescent Turner Syndrome (TS) patients to adult health care has been reported in many studies.Objective and hypotheses: We conducted a medical and psychological follow-up of adult patients with Turner Syndrome which had been treated at our tertiary pediatric endocrine centre.Method: We screened for expected comorbidities and provided a questionnaire asking for current medical care. Furthe...

Background: T1DM may influence growth and pubertal development and vice versa. Delayed pubertal development and reduced final height are known to be associated with inadequate metabolic control. Many factors including insulin resistance during puberty and insufficient adherence may be responsible for increasing HbA1c.Objective: Is pubertal growth spurt associated with an increase of HbA1c? Are there gender differences in metabolic control during...

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: Since the late 1960’s, pubertal breast staging has been based on Tanner’s classification. Appearance of glandular breast tissue may be difficult to distinguish by palpation from the surrounding subcutaneous fat tissue, especially in obese girls. To our knowledge, validation of the clinical assessment of pubertal stages by MRI quantification of glandular breast tissue has never been performed.Objective and hypotheses: i) To report no...