ESPE Abstracts

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disease characterized by mineralocorticoid resistance with subsequent salt wasting, hyperkalemia, metabolic acidosis, and elevated plasma renin and aldosterone levels.Patients and methods: We report a male newborn that presented with failure to thrive and sustained hyponatremia during his early postnatal period. He was conceived after IVF (twin pregnancy) and prematurely born by cesare...

Background: Obesity is characterized by insulin resistance of target tissues, such as skeletal muscle, adipose tissue and liver. Skeletal muscle tissue is responsible for approximately 75% of whole body insulin-stimulated glucose uptake. Previously, it has been shown that skeletal muscle strength is significantly associated with insulin resistance in type-2 diabetics and non-diabetics.Objective and hypotheses: To examine the relationship between insulin ...

Context: Puberty timing is highly heritable. Recent genome-wide association studies, comparing timing of menarche in girls to timing of voice-break and facial hair in boys, revealed a largely overlapping genetic architecture of female and male pubertal timing. However, it is also known that genetic heterogeneity between sexes exists for some loci.Objectives: We hypothesized that self-reported relative parental pubertal t...

Introduction: Cryptorchidism has usually been managed using a surgical approach, with little attention to the underlying pathophysiology.Objectives: To assess gonadal function before treatment in prepubertal boys with cryptorchidism.Methods: In a cross-sectional study we reviewed all clinical charts of patients encoded with the diagnosis of cryptorchidism in the database of a paediatric tertiary hospital, between 2000 and 2017. Inc...

Background: Initiation and progression of puberty requires concerted action of activating and inhibiting factors. Recently, cases of central precocious puberty have been linked to loss-of-function mutations of makorin RING-finger protein 3 (MKRN3) indicating a pivotal inhibitory role of MKRN3 on GnRH secretion.Objective and hypotheses: To investigate peripubertal circulating MKRN3 levels in healthy boys.Method: Healthy boys (n<...

Background: Several lines of evidence suggest that the adult pituitary contains a population of tissue-specific stem cells capable of differentiating into hormone-producing cells. Previously, we have shown that Sox2+ve cells are able to self-renew and differentiate in vitro, suggesting that this population of undifferentiated cells may contain stem cells in vivo. When targeted with oncogenic mutations adult stem cells can become cancer stem cells, able to self-renew and give r...

We have investigated two siblings, a sister and a brother, who presented at the age of 2 years, with central hypothyroidism, short stature and early onset obesity. The older sister presented at the age of 6 months with central hypothyroidism and was started on a low dose of thyroid hormone (25 ug l-thyroxine). Her growth continued to be poor and at the age of 2 years and 6 months her height was −3.98 SDS. She was started on growth hormone followed by a rapid catch-up gro...

Background: Optimal glycemic control in children and adolescents with type 1 diabetes mellitus (T1DM) is often hampered owing to psychologic maladjustment of both patients and their parents. Accumulating evidence suggests that hyperglycemia may be associated with prolonged activation of the stress system.Objective and hypotheses: To pilot test a 12-week intervention program including psychoeducation about stress, healthy lifestyle, diaphragmatic breathin...

Introduction:The incidence of obesity increases unstoppably in all populations and at all ages, and with it, the associated metabolic morbidity and mortality. The promotion of physical activity and a healthy diet are the fundamental elements to alleviate this situation. The objective of this study is to determine the relationship of physical activity and eating patterns with body composition, the degree of adiposity and certain metabolic risk factors.<p cl...

Background: Patients with congenital adrenal hyperplasia (CAH) are at risk of developing an unfavorable cardiovascular risk (CVR) profile. Data on the CVR profile in pediatric CAH patients are scarce.Objective and hypotheses: To evaluate the CVR profile of pediatric CAH patients.Method: A cross-sectional study in CAH patients (8–16 years) was performed (n=27). Blood was taken to evaluate several circulating CVR marker...