ESPE Abstracts

Introduction: Congenital central hypothyroidism is a rare pathology, whose molecular origin has been identified more frequently since discovery of the role of IGSF1. The natural evolution of central hypothyroidism in patients with mutations is not well known however.Case report: A male infant born at term with a normal birth weight received thyroid function tests in the neonatal period because of symptoms of bra...

Background: Congenital isolated adrenocorticotrophic hormone (ACTH) deficiency (IAD) is a rare condition. It is characterized by low plasma and cortisol levels and preservation of all other pituitary hormones (2 cases described with transient partial growth hormone deficiency). The principal molecular cause is identified as TPIT mutation. We present here the case of a neonate with TPIT mutation and ACTH deficiency associated with probable growth hormone and thyrotropin deficie...

Background and Objectives: N-terminal-pro hormone Brain Natriuretic Peptide (NT-proBNP) and hs-Troponin T (hs-TnT) are commonly used cardiac biomarkers despite lacking a deeper understanding about influencing parameters especially in the healthy pediatric population. We previously found associations between NT-proBNP and hs-TnT and a child´s age, sex, pubertal status, Body Mass Index (BMI) and serum lipid levels. Subsequently, we explored associations wi...

Case presentation: We recently started a 9-year-old girl with hypoparathyroidism due to a mutation in the PTH gene on a pump therapy with 1–34 rhPTH. She has received calcitriol and calcium since the age of 4 months. Bilateral nephrocalcinosis stage II/III was diagnosed at a young age. So far, her renal function remains normal. During the last 18 months symptomatic hypocalcemic episodes have become more frequent despite increased calcium and calcitriol doses. Continuous r...

Objective: The number of heavy newborns is increasing steadily. Often the gestational diabetes (GDM) has not been identified even though an increasing number of pregnant woman are being screened. We examined in a circumscribed area how often the pregnant women passed through an oral glucose tolerance test (oGTT) and had it been realized and interpreted according to the AWMF guidelines.Methods: In this prospective study we analyzed the OGTT results from 1...

Introduction: Thyroid cancer is the most common pediatric endocrine cancer, constituting 0.5%–3% of all childhood malignancies. Cancer can be present in multinodular thyroid disease but the majority of malignant nodules are solitary. Thyroid malignancies in children are almost always well differentiated.Aim: Prevalence, clinical features, pathological profile and therapy of thyroid cancer in children.Patients and method: Retro...

Background: G, male, was born at 39 GW by emergency CS from non-consanguineous parents. Prenatal US showed growth at lower limits of normal from 22 GW, short limbs and polyhydramnios. Amniocentesis karyotype was 46,XY. At birth weight and length were <3rd percentile, head circumference was between 10 and 25th percentile. At physical examination: short limbs, short neck, cryptorchidism, and microphallus. Early the baby presented mild respiratory distress and a severe episod...

Background: Congenital hypopituitarism is a rare disease. Although our understanding of the involved transcription factors is improving, mutations in candidate genes are rarely identified. Extra-pituitary symptoms can point towards new genes of interest. FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), a rare affection that combines congenital alterations of eyelids with ovarian dysgenesis in some families. Moreover, we have previously reported ...

Background: X-linked hypophosphatemia (XLH) is a rare metabolic bone disease which is caused by inactivating mutations in Phosphate-regulating neutral endopeptidase, X-linked (PHEX). Due to dysregulation of Fibroblast growth factor 23 (FGF-23), increased systemic levels of FGF-23 lead to chronic renal phosphate wasting and to impaired activation of 25OH-Vitamin D (25OHD). As a result, patients suffer from multiple musculoskeletal symptoms such as long bone def...

Introduction: The impact of gestational diabetes mellitus (GDM) on fetal development and the future health of the child need further studying. In accordance to the criteria by Hyperglycemia and Adverse Pregnancy Outcome Study, GDM can lead to a number of negative consequences, including the impact on disturbance of metabolic parameters.Aim: To compare the impact of glycemia during pregnancy on the children’s metabolic status.M...