ESPE Abstracts

Background: Adult height prediction (AHP) based on bone age appears as an incomplete procedure – it does not reveal the path from the present to the end-point. Growth charts offer little help in this respect because they average over children with different age of growth spurt (AGS).Objective and hypotheses: To extend AHP by also forecasting AGS and the entire height and velocity trajectories until adulthood and displaying this in a growth chart mad...

Background: Radioactive iodine (RAI) therapy has become the preferred treatment for Graves’ disease in children. Its use has found favour due to the risk of adverse effects in medical management and the invasiveness of thyroidectomy. Side effects of RAI in adults are well-documented and include dry mouth, sore throat, and neck pain. With its relatively recent application to paediatric patients, there is not a complete understanding of adverse effects in the paediatric pop...

Introduction: The evolution of Hashimoto Thyroiditis (HT) has been investigated by several studies both in pediatric and adult age. However, there are limited data on the progression of the disease from childhood to adulthood.Objective: Aim of the study was to describe the evolution of thyroid function in children with HT from childhood to young adulthood.Patients and Methods: The diagnosis of HT was defined by the presence of anti...

Background: Woodhouse-Sakati syndrome (WSS) is an extremely rare autosomal recessive multisystem disease. Ectodermal system findings, such as alopecia and changes in facial skin, endocrinological problems including hypogonadism, hypothyroidism, diabetes mellitus (DM), and decreased levels of insulin-like growth factor I (IGF-I), neurological disorders such as hearing loss and progressive extrapyramidal involvement are the components of this syndrome. The syndr...

Background: Diseases of sex development (DSD) are rare heterogeneous disorders ranging from infertility (an estimated 15% of couples worldwide have difficulty conceiving), to severe cases including ambiguous genitalia, sex reversal, and gonadal dysgenesis. The genetic basis of DSD remains unknown in 50% of the severe cases. To identify novel genetic causes of DSD, we are investigating patients in which known causative genes have been excluded. Identifying new ...

Introduction: Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome is a rare condition characterized by symptomatic ACTH deficiency and primary hypogammaglobulinemia, caused by a heterozygous mutation in the NFKB2 gene (MIM#164012) on chromosome 10q24. We report the novel mutation of the NFKB2 gene in a Korean boy presenting with gait disturbance, calf pain, and abnormal thyroid function test.<s...

Background: Patients with NNT (Nicotinamide Nucleotide Transhydrogenase) gene mutations, a rare cause of glucocorticoid and mineralocorticoid deficiency. Adrenal Rest Tumor (ART) in females, reported so far only in noncompliant patients with congenital adrenal hyperplasia and elevated ACTH levels, is very rare (<20 cases world-wide). This study characterizes the pathophysiology, the molecular ontogeny and methylation analysis of a unique ART in a female wit...

Background: Primary ovarian failure is (POF) characterised by primary amenorrhoea or early menopause in females. Minichromosome maintenance 10 (MCM10) is a gene involved in DNA damage repair, DNA replication and chromatin formation has received attention as a potential genetic etiology for neoplastic disease. Drosophila with mutated MCM10 have subfertility and dysfunction in female germline development. In humans, biallelic mutations of the MCM10 causes NK cel...

Background: Severe XX-DSD and ovarian dysgenesis (OD) are the extreme clinical phenotype of approximately 1% of women that are affected by primary ovarian insufficiency (POI). BMP15 and GDF9 are two members of transforming growth factor ß (TGF-β) superfamily; they share an oocyte-specific expression pattern and play a crucial role in early folliculogenesis. Only XX cases of mutations in BMP15 have been proved to cause human disease. Here we describe...

Background: Thyroglobulin (Tg), a protein synthesized uniquely in the thyroid gland, may be elevated in primary congenital hypothyroidism (CH) due to increased TSH drive, absent in true athyreosis and Tg deficiency, and very elevated in some types of dyshormonogenesis.Hypothesis: Serum Tg at the time of newborn screening may reflect the amount of thyroid tissue present in apparent athyreosis and thyroid ectopia, and henc...