ESPE Abstracts

Background: Mirror movements (MM) are frequently associated to Kallmann syndrome (KS). They are mainly observed in patients with ANOS1 (KAL1) mutations. MM have never been reported in ANOS1 mutated females. A defect in the contralateral inhibition of the pyramidal tract has been proposed as the mechanism of MM in KS but never demonstrated.Objective and hypotheses: To investigate the molecular mechanism of a familial case of gonadotropic deficiency in whi...

Background: P450 oxidoreductase deficiency (PORD) is characterised by glucocorticoid and sex steroid deficiency and skeletal malformations, resembling Antley–Bixler syndrome (ABS, MIM 124015), a skeletal malformaton phenotype also present in patients with fibroblast growth factor receptor 2 mutations (FGFR2, MIM 176943). While genetic testing confirms both conditions, establishing the exact diagnosis on clinical grounds can be challenging.Objective ...

Background: Patients with congenital adrenal hyperplasia (CAH) are treated with life-long glucocorticoid (GC) replacement therapy. Negative effects on cognition, brain structure and function during working memory tasks have been identified. To date, no studies on functional connectivity during rest have been performed in patients with CAH. One study conducted on patients with Cushing’s syndrome, another disorder of cortisol imbalance, suggests that long-t...

Background: Recently, the first patients with resistance to thyroid hormone (RTHα) due to inactivating mutations in TRα1 have been identified. These patients are characterized by growth retardation, delayed bone development, mild cognitive defects, delayed motor development and abnormal thyroid function tests.Objective and hypotheses: We hypothesized that the phenotype of a TRα mutation depends on its location, e.g. if it is present only i...

Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. Typical features include pre-/postnatal growth impairment, hyperinsulinaemic hyperglycaemia with fasting hypoglycaemia, nephrocalcinosis, recurrent sepsis, little adipose tissue, soft tissue overgrowth, hirsutism, acanthosis nigricans and facial dysmorphism. However, additional comorbidities may be present, affecting prognosis.<...

Background: In premature neonates hypothyroidism or thyroid sick syndrome is frequently diagnosed, which is a result of the immaturity of the gland itself and the hypothalamic–pituitary–thyroid axis. The necessity of rapid adaptation to extrauterine life, generation of high thermal energy, and accelerated development of the central nervous system is the cause of the increased demand for thyroid hormone.Objective and hypotheses: The aim of our s...

Background: A mutation in EIF2S3 (NM_001415; Xp22.11) was previously associated with microcephaly and developmental delay in a single pedigree. EIF2S3 encodes the eukaryotic translation initiation factor 2 subunit 3 (eIF2γ), the largest of three EIF2 subunits. EIF2 initiates protein synthesis by forming a ternary complex with GTP and initiator methionyl-tRNA which then binds to the 40S ribosomal subunit, enabling scanning of mRNA from the 5′ end to...

Background: Natural killer cells are a type of cytotoxic lymphocyte critical to the innate immune system. NK cells from patients with type 1 diabetes (DM1) have numeric and functional abnormalities. However, little is known about the number of NK cells in healthy siblings of children with DM1.Objective and hypotheses: The aim of the study is to compare the population of NK cells and the correlation between NK cells and beta cells autoantibody in healthy ...

Objective and hypotheses: The aim of the study is comparison of the occurrence of islet autoantibodies in healthy siblings of children with T1DM to healthy children from non-diabetic families.Method: Determination of anti-decarboxylase of the glutamic acid antibodies (anti GAD-Ab), anti-protein tyrosine phosphatase (anti IA2), and antibodies against zinc transporter eight (anti ZnT8) in 75 children with T1DM, their siblings – 105, and 77 healthy chi...

Background: The development of the Hashimoto’s thyroiditis is the result of the damage to thyrocytes, apoptosis, and autoimmune cytotoxic action of lymphocytes.Objective and Hypotheses: The aim of the study is to present ultrastructural changes in thyroid cells in the course of damage in Hashimoto’s thyroiditis.Method: The study involved 40 children: 20 children with Hashimoto’s thyroiditis and 20 children as a contr...