ESPE Abstracts

Background: Childhood adrenocortical tumours (ACT) are rare and have well been described as part of familial cancer susceptibility syndromes which are caused by single gene mutations including P53, MEN1, PRKAR1A, CTNNB1 and APC. Adenomas are the most common ACT, but adrenocortical carcinomas (ACC) occur as well. Childhood ACC can be part of the Li-Fraumeni Syndrome and Beckwith-Wiedemann syndrome. ACC can also occur in familial adenomatous polyposis coli (FAP). FAP is a colon ...

Background: Nutrition is an important factor to regulate reproductive function. Some studies showed that high fat diet (HFD) may influence to puberty onset and irregular estrous cycles in the female rats. However, underlying regulation mechanism of nutrition on pubertal maturation and reproductive function is not well-known. Kisspeptin and neurokinin B (NKB) are an essential factor for regulation of pubertal development.Objective and hypotheses: In this ...

Background: Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies, affecting 5–10% of population. Insulin resistance, apolipoprotein B:apolipoprotein A1 ratio, and BMI commonly increases in obese PCOS patients and are among the indicators of the disease. On the other hand, metformin and cinnamon are generally believed to control these.Objective and hypotheses: To compare the effects of cinnamon with those of the metformin on in...

Background: Intermittent breast budding (girls entering stage B2 and then subsequently regressing to B1) in healthy girls is a frequent phenomenon observed by most clinicians. However, little is known of normal progression of female puberty, and the phenomenon of transient breast development has, to our knowledge, never been studied in details.Objective and hypotheses: We present and validate the female Puberty Nomogram indicating age specific SD<...

Introduction: After contact with the antigen, lymphocytes require activation for proliferation and differentiation into effector cells. Activation of lymphocytes results in the expression of activation markers. The CD69 antigen appears first on the surface of lymphocytes. This occurs one hour after receiving the activation signal. The CD69 molecule acts as a cellular stimulating signal, causing further activation and proliferation of cells, stimulating the syn...

Introduction: Human ovary is commonly the target of an autoimmune attack in cases of organ- or non-organ-specific autoimmune disorders. Hashimoto’s thyroiditis (HT) is likely to be associated with ovarian dysfunction and diminished ovarian reserve. The classical hormonal test assessing ovarian reserve as early follicular phase serum levels of FSH, inhibin B and estradiol (E2), which are interdependent, and the calculation of the number of antral follicles by transvaginal ...

Background: Branchio-oto-renal (BOR) syndrome is a rare inheritable condition affecting the ears, 2nd branchial arch structures and the urinary system. Recognised features include hearing loss, structural defects of the ear, branchial defects, and a variety of renal malformations. Causative genetic variants have been identified as SIX1 and EYA1, accounting for approximately 49% of all cases of BOR syndrome. Short stature has not commonly been described in BOR syndrome, but is ...

Background: Acromesomelic dysplasia Maroteaux type (AMDM) (OMIM 602875) is a rare autosomal recessive skeletal disorder with an approximate prevalence of 1/1,000,000) and characterized by severe dwarfism accompanied by shortness of distal and middle segments of extremities. Mutations in the NPR2 gene which encodes for the natriuretic peptide receptor B (NPR-B) is the underlying genetic cause of this disorder.Objective and hypotheses: Genetic con...

Rationale: Bronchopulmonary dysplasia (BPD) is a common complication after preterm birth that is associated with neurodevelopmental impairment. Neurofilament light chain (NfL) has been identified as a biomarker for neuroaxonal damage in preterm infants, but its relation with BPD has not yet been established. We hypothesized that BPD is associated with increased NfL levels at an early stage, indicative of early neuroaxonal damage....

Introduction: Hashimoto's thyroiditis (HT) and Graves' disease (GD) become increasingly common in children's population. Pathogenesis of autoimmune thyroid diseases (AITD) bases on coexistence of genetic predisposition and environmental triggers which finally drive to breakdown of immune tolerance. Many mechanisms in human body moderate process of inflammation. While some of them answer for up-regulation, some agents like B regulatory lymphocytes (...