ESPE Abstracts

Introduction: Prohormone convertase (PC) is a calcium-dependent serine endoprotease. PC 1/3 is responsible for converting hormones and neuropeptitids which has role on energy homeostasis, food intake,glucose metabolism (a-MSH, CART, NPY, AgRP, Orexin, Hypocretin, Ghrelin, insulin, cholecystokinin, GLP-1, GHRH, GnRH, ACTH, TRH) from proforms to active form. PC 1/3 deficiency’s clinical signs are diarrhea that started in the newborn period, obesity, hypoglycemia, multiple ...

Background: Vitamin D, mainly important in calcium phosphate homeostasis and bone health, has been recently suggested as an important factor in pathogenesis of numerous chronic conditions such as type 2 diabetes, metabolic syndrome and polycystic ovarian syndrome (PCOS).Objective and hypotheses: The aim of this study is to investigate the relation between PCOS and premature adrenarche (PA), suggested as predictor of PCOS.Method: A ...

Purpose: Our study aimed to examine the effects of blue light exposure on prepubertal male rats’ puberty and testis tissue.Methods: Eighteen 21-day-old male Sprague Dawley rats were divided into three groups consisting of six rats in each group: Control Group (CG), Blue Light-6 hours (BL-6), and Blue Light-12 hours (BL-12). CG rats were maintained with 12/12-hour light-dark cycles. The rats of BL-6 and BL-12 were e...

Introduction: It is known that microduplications including the SOX3 gene and intragenic duplications leading to loss of function in the gene cause panhypopituitarism, which can be accompanied by intellectual failure. Here, we report the first known case of panhypopituitarism, a deletion of the X chromosome, including the SOX3 gene in the q27.1q27.3 region.Case: A 15-years and two months old male patient was referred to o...

Background: Introital stenosis in CAH girls could occur due to poor estrogenisation of vaginal tissue. It is unknown whether CAH genital skin is equally capable of responding to estrogens and androgens, depending on form and degree of external virilisation.Objective and hypotheses: To determine the levels of oestrogen α (ERa) and androgen receptors (AR) immunoreactivity in genital tissues of girls with CAH.Method: Surgical was...

Background: Premature thelarche (PT) is a benign, non-progressive condition defined as isolated breast development without the activation of the hypothalamic-pituitary axis. While the pathophysiology of PT remains unclear, increased sensitivity to estrogen may cause PT.Objective and hypotheses: The aim of this study was to investigate the association between polymorphisms in the estrogen receptor alpha (ERα) gene and PT in girls.<p class="abstex...

Background: Oestrogens are well known for their capacity to promote bone maturation and at high doses to induce growth plate closure and thereby stop further growth. High-dose oestrogen treatment has therefore been used to limit growth in extremely tall girls. However, recent data suggest that this treatment may have severe side effects, including increased risk of cancer and reduced fertility.Objective and hypotheses: We hypothesised that oestrogenic ef...

Background: Less than 1% of breast cancer cases occur in women aged <25 years but young age at diagnosis is associated with an increased risk of recurrence and inferior survival compared to older patients. Breast tumours from young patients have an increased incidence of adverse pathological features; however it is not clear whether this fully explains poor outcomes.Objective and hypotheses: The Prospective Study of Outcomes in Sporadic and Hereditar...

Introduction: Wolfram syndrome (WS) is a rare autosomal recessive disorder characterized by the association of early-onset, insulin-dependent diabetes mellitus (DM), diabetes insipidus, deafness, and progressive optic atrophy. The disease is caused by mutations of wfs1 located on 4p16 encoding peptide that is called wolframin. Wolframin is a component of the endoplasmic reticulum (ER) membrane. It is considered that mutant Wolframin might cause increased misfolded and...

Background: The oestrogenic activity of endocrine-disrupting compounds (EDCs) has been reported to be associated with premature thelarche (PT) and precocious puberty. Some years ago, we developed a recombinant cell bioassay to determine serum estrogenic bioactivity (EBA) that is useful in physiology, as well as in the field of the environmental-related endocrine diseases. We recently improved the assay with an evaluation of EBA before and after incubation with estrogen recepto...