Endocrine Abstracts

Metabolic disorders, such as overweight and obesity, are serious health societal challenges due to their high incidence rates. Obesity leads to metabolic dysregulation, promoting hormonal imbalance, oxidative stress, and a chronic inflammation state. Eating habits towards the intake of highly caloric fat-rich regimes induce epigenetic changes in the information transgenerationally transmitted. Furthermore, obesity promotes carcinogenesis. It is known that the prostate is sensi...

Introduction: The mutation at m. 3243 adenine to guanine (A>G) in mitochondrial encoded transfer-RNA Leucine 1 (MTTL1) gene is the single most prevalent disease-causing mitochondrial DNA (MtDNA) mutation, with carrier status of 1:400 in our general population. The distinct disease phenotype is dependent on the level of heteroplasmy of wild-type vs mutation-type mtDNA in the specific target tissues, ranging from Maternally inherited diabetes and Deafness (MIDD) to mitochond...

Background: Type 1 pseudohypoaldosteronism (PHA) is characterised by resistance to aldosterone action, resulting in salt wasting, hyperkalaemia and metabolic acidosis in the neonatal period. Type 1 PHA can be classified as Renal PHA (autosomal dominant (AD)), and the more severe Multiple target organ defect / systemic PHA (autosomal recessive (AR)). The aim of this study was to ascertain the incidence of PHA, and characterise mode of presentation, management and clinical outco...

Obesity and its comorbidities are reaching epidemic proportions. Maternal obesity is known to predispose the offspring to metabolic disorders, independently of genetic inheritance. This intergenerational transmission has also been suggested for paternal obesity during the pre-conception stage, as it appears to have a negative impact on the metabolic and reproductive health of the offspring, likely via epigenetic changes in spermatozoa. However, whether paternal obesity sensiti...

We present two cases because 17OHD is the rare cause of congenital adrenal hyperplasia (1%) and our patients are first cousins (their fathers are brothers). Genetically female patients with congenital adrenal hyperplasia due to 17-α hydroxylase enzyme deficiency (17OHD) represent with sexual infantilism, hypertension and genetically male patients represent with male pseudohermaphroditisim, hypertension at pubertal age. The cousins applied for primer amenorrhea and hyperte...

Autoimmune hypoadrenalism (Addison’s disease) is a rare condition with a European prevalence of up to 140 per million1. It frequently occurs in association with other organ-specific autoimmune diseases, both endocrine and non-endocrine. These conditions are recognised to occur in the extended family, but their prevalence has been hard to determine, because of the rarity of the disease.In 2003 we conducted the largest international survey ...

Introduction: Accumulating evidence has shown that not only maternal health during pregnancy, but also the paternal metabolic status at the time of conception may have an impact on the subsequent health of the offspring. Cholestatic liver diseases are metabolic conditions characterised by increased circulating serum bile acid and lipid levels. In this study we hypothesised that paternal cholestasis alters disease susceptibility in the offspring.Methods: ...

Introduction: Across different chronic diseases, it has been shown that problem focused coping is associated with better adjustment. The aim of the study was to evaluate the various coping behaviors of children and adolescents with type 1 diabetes (T1DM) and their association with metabolic control and duration of disease.Methods: The study population consisted of 65 children and adolescents with T1DM (male/female: 22/43) with a mean (±S.D.</...

Introduction: Like many other hospitals nurses work either on irregular shifts or on regular basis in our centre. Also their education levels differ among them. In this study we aimed to analyse some factors which may affect the children of female nurses’ adiposity.Subjects and methods: We included 100 children of female nurses on duty in our hospital. The ages ranged between 2 months and 17 years.Results: According to standar...

Congenital hypothyroidism (CH) with a normal located thyroid gland may be transient or permanent and environmental, iatrogenic, immunologic or genetic factors can be involved. PAX-8, TSH receptor and THOX2 gene mutations have been identified in cases of CH with a gland of normal size.In this study we performed genetic analysis of PAX8, TSH receptor and THOX2 genes in 14 children with CH and a normal sized eutopic gland. Genomic DNA was extracted from lym...