ESPE Abstracts

Great controversy exists in regard to the timing and technical alternatives to perform feminizing genitoplasty in children. Opponents to an early approach argue that the reconstruction can be risky in terms of clitoral/vaginal function therefore surgery should be postponed until the patient herself can sign an informed consent and be aware of potential risks as well as confirms the desire to undergo the procedures. Such negative feelings in regard to early reconstruction are b...

Background: Treatment with GH of children born SGA allows an increase in growth velocity (GV) and improves adult height. Increased insulin resistance has been described in these patients, which reverts after interrupting GH administration. However, long-term metabolic consequences are not clearly established.Objective and hypotheses: Describe insulin resistance (HOMA-IR index) and auxological development (GV and height) in SGA children treated with GH fo...

Background: Birth weight (BW) is often used as a proxy for gestational age (GA) by studies on preterm birth. Recent data indicate that the terms very-low-birth-weight (VLBW; BW <1500 g) and very preterm (VP; GA <32 weeks) birth are not equivalent with regard to perinatal outcomes and postnatal growth up until final height. It is unknown whether the differences between these terms could be extended to long-term neurodevelopmental outcomes.Objectiv...

Introduction: Hypoferraemia is the most common nutritional deficiency worldwide and a leading cause of potential developmental disorders in children. Obesity seems to be associated with this condition, but it is still unclear if it is caused either by depleted iron stores, diminished availability, or both.Aim: To analyse the relationships between childhood obesity, iron metabolism and inflammation....

Congenital hyperinsulinism (CHI) is rare disease which prevalence is estimated as 1:2500 to 1:50000 born newborns. Main reason of the disease are genetic mutations in genes responsible for regulation of insulin secretion. First line treatment is diazoxide therapy.Our patient was diagnosed with CHI at the age of 2 months. Biochemical tests prooved diagnosis of CHI. He presented lack of negative feedback and secreted pathologic amount of insulin – dur...

Background: In boys with suspected delayed puberty, serum testosterone is used for the evaluation of gonadal function. It is known that early in puberty testosterone levels show a sleep wake rhythm, with nocturnal levels increasing ahead of daytime levels. To evaluate the onset of puberty, the use of salivary testosterone would be an appealing alternative to serum analysis as it is non-invasive and allows multiple nocturnal sampling. Moreover, it is thought that salivary testo...

Background: Silver Russell syndrome (SRS) is characterized by low birth weight, severe postnatal short stature and distinctive facies. In ~50% of patients, (epi)genetic alterations can be detected (~40% hypomethylation of H19 on chromosome 11, ~10% maternal uniparental disomy (UPD) 7). As SRS patients are usually born small for gestational age (SGA), they are treated with GH to improve height. However, data on long-term effects of GH treatment in SRS patients are very limited....

Background: Preterm birth is associated with hypertension and increased fat contents in later life. Salt sensitivity (SS) could be a mechanism underlying this relationship. In adults SS has been recognised as a cause of hypertension that is related to low birth weight and obesity.Objective and hypotheses: We studied the prevalence of SS in 7–8-year old children born <32 weeks of gestation and/or with a birth weight <1500 g as well as its rel...

Background: Inappropriate management of illness/stress, accidental or deliberate insulin omission are some of the causes of Diabetes ketoacidosis (DKA) in patients with established diabetes. During illness, patients with type 1 diabetes are advised to monitor for hyperglycaemia and ketosis, maintain fluid intake and if required, to administer supplemental insulin. Previous studies have confirmed that comprehensive diabetes self- management education (DSME) programs on manageme...

Background: Dyshormonogenic hypothyroidism is classically a monogenic disease with recessive inheritance. Thyroid dysgenesis showed a multigenic origin in a mouse model of double-heterozygous deletions of Nkx2.1/Pax8 transcription factor genes, suggesting a possible polygenic nature of certain cases of human hypothyroidism.Objective and Hypotheses: To investigate genetic traits of polygenic involvement in dyshormonogenic hypothyroidism,...