ESPE Abstracts

Background: Maternal autoimmune hypothyroidism can have negative consequences on the fetus: on the one hand, maternal hypothyrosinemia might affect the fetal brain development in the early stages of pregnancy; on the other, thyroid inhibiting antibodies can pass through the placenta. It is currently unclear if these antibodies may affect the newborn’s thyroid function. Consequently, there are no certain indications regarding the management of newborns bor...

A 8 years and 7 months old male presented with short stature related to his target height. No history of bones fractures. The patient was 120.7 cm (- 1.77 SDS). Physical exam demonstrated peculiar facies, relative macrocephaly, delayed tooth eruption and pectus carinatum. He referred during the clinical evaluation diffuse bone pain and weakness, mostly exacerbated by sport activity. A first diagnostic investigation had already been made showing low serum alkaline phosphatase a...

Background: Childhood onset growth hormone deficiency (CO-GHD) may contribute to low bone mass and alterations of body composition. However, the mechanisms by which CO-GHD effects bone health are not yet clearly defined.Objective and hypotheses: To evaluate musculoskeletal health in CO-GHD subjects at initial evaluation and retesting after final height.Method: A cross-sectional study of assessing bone health and body composition by...

Background: Turner syndrome (TS) is one of the most common genetic disorders in females and occurs in phenotypic females who are missing all or part of one sex chromosome. While the most common mosaic forms of the disorder are 45,X/46,XX and 45,X/46,Xiq, mosaicism for cells containing Y chromosome material is well documented.Objective and hypotheses: Owing to increased risk of gonadoblastoma (GB), current recommendations are for elective gonadectomy foll...

Background: Secondary pseudohypoaldosteronism (PHA) type 1 is an uncommon salt losing condition of infancy caused by transient resistance of the mineralocorticoid receptors (MR) of the renal tubule to aldosterone. This can be secondary to urinary tract infection (UTI), urinary tract malformation (UTM) or obstructive uropathy. Ninety percent of reported cases present before 3 months and nearly all are under 7 months of age.Objective and hypotheses: The co...

Background: Ireland has a high incidence of type 1 diabetes in childhood (16.8/100, 000 per year (1). A small percentage of children with diabetes have maturity onset diabetes of the young (MODY) (2). Establishing the correct diagnosis is critical to optimal therapy and future genetic counselling (3).Objective and hypothesis: To review the cohort of children attending our tertiary diabetes service and describe the clinical features of those where MODY wa...

For the brain tumor committee of SFCE (Société Française des Cancers de l’Enfant).Objective: Therapeutic approach favors chemotherapy as the first-line-treatment in progressing OPG. There are few data on long term endocrine outcomes of aggressive OPG treated by upfront chemotherapy. Our main objective was to describe the long-term endocrine sequelae in these patients and to identify potential early predictors of the endocrine involvem...

Background: overexpression of the oncogene Yes-associated protein 1 (YAP1), a Hippo pathway target, associates with increased cell proliferation in some human cancers. There is not data on adrenocortical tumors (ACT). YAP1 is a potential target of Wnt/β-catenin pathway, which plays an important role in ACTs.Objective and hypotheses: to evaluate the role of YAP1 and its interaction with the Wnt/β-catenin pathway in ACT.Met...

Background: 16p11.2 microdeletion is most common chromosomal anomaly associated with syndromic obesity. The presence of a large number of flanking segmental duplications/low-copy repeat sequences with a high degree of sequence identity in the short arm of chromosome 16 (16p) leads to recurrent deletions and duplications as a consequence of non-allelic homologous recombination. A recurrent 600kb microdeletion is one of the most frequent genomic imbalances in 16...

Introduction: McCune Albright Syndrome consists of at least 2 of the following 3 features: (1) polyostotic fibrous dysplasia (PFD), (2) Café au lait macules and (3) autonomous endocrine hyperfunction (eg, gonadotropin-independent precocious puberty). Other endocrine syndromes include hyperthyroidism, acromegaly, and Cushing syndrome.Case: 2 year old girl presented with severe hip pain, inability to walk and progressive deformity of right lower limb....