Endocrine Abstracts

Fabry Disease (FD) is a rare X–linked metabolic storage disease characterized by a–galactosidase A deficiency and deficient lysosomal function. The patients suffer from diffuse organ manifestations due to the accumulation of the substrate globotriaosylceramide (Gb3), which are only partially reversed by the available enzyme replacement (ERT) therapies. Previous endocrinological studies in patients with FD included small patient numbers or focused on a certain organ...

Background: Levothyroxine (LT4-Rx) is one of the most prescribed drugs worldwide and the vast majority of patients receive long-term treatment. However, in a recent study of 291 subjects we found that 60% of this cohort were euthyroid two months after LT4-Rx discontinuation1.Aim of the study: A prospective clinical cohort follow-up study was carried out. In 688 subjects (82% females) aged 48.01±15.96 (range 17-84years) with 8.59±6.98...

Background: Levothyroxine (LT4) is one of the most prescribed drugs worldwide. Once started, about 90% of patients continue LT4 treatment long-term.Aim of the study: To evaluate the necessity of long-term thyroxine supplementation and to determine the prognostic factors that could identify which patients may discontinue LT4 treatment.Design and methods: LT4 replacement therapy was paused for at least six weeks in all patients conse...

Context: The early activation of adrenal zona reticularis, denoted by increased circulating levels of adrenal androgens before the age of eight years in girls is called premature adrenarche (PA), while the concomitant appearance of pubic hair is termed premature pubarche (PP). Girls with PA-PP display an unfavorable metabolic, hormonal and psychologic profile, compared to their normal peers and are also at an increased risk of developing polycystic ovary syndrome (PCO...

ObjectiveThe exact risk of type 2 diabetes in women with polycystic ovary syndrome (PCOS) is unknown. It is also unclear if obesity independently increases the risk in this population. The aim of this study was to systematically review and synthesize the best available evidence regarding the association between PCOS and type 2 diabetes, stratified according to obesity status.MethodsA comprehensive search was ...

The adrenal glands serve as central organs of the endocrine system by producing steroid hormone essential for organismal homeostasis. Mechanisms ensuring proper adrenal homeostasis and function are therefore crucial for maintaining human life. ACTH, released by the pituitary corticotrope, is required for the differentiation of the inner part of the adrenal cortex (the zona fasciculata) and the resultant stimulation of cortisol production. Perturbation of ACTH signaling can lea...

Background: There have been conflicting reports on fertility, reproduction rates and pregnancy outcomes in women with congenital adrenal hyperplasia (CAH). Identification of potential modifiable influential factors of pregnancy outcomes in these women has been hampered in the past by either small sample sizes or data derived from epidemiological samples.Methods: Retrospective multi-center study including a total number of 72 women with CAH (n=34...

Objective: Polycystic ovary syndrome (PCOS) is hypothesized to originate in foetal life, while its long-term consequences extend beyond menopause. However, the natural course of the disorder has not as yet been elucidated, and recent data suggest differences in the evolution of PCOS according to a woman’s weight. We aimed to define the evolution of normal-weight Caucasian women with PCOS through the years.Design: Cross-sectional case control study</...

Background: Insulin secretory defects and insulin resistance exists in women with polycystic ovary syndrome (PCOS) and are prerequisites for the development of type 2 diabetes (T2D). we aimed to determine the prevalence of T2D, impaired glucose tolerance (IGT) and impaired fasting glucose (IFG), as well as the factors associated with these dysglycemic conditions in this population.Methods: 1614 PCOS women of Caucasian origin (Rotterdam criteria) with a m...

Current systemic treatment options for patients with ACCs are far from being satisfactory. DNA damage/repair mechanisms, which involve e.g. ATM/ATR-signalling or RRM1/RRM2 encoded ribonucleotide reductase (RNR) activation commonly contribute to drug resistance. Moreover, also the regulation of RRM2b, the p53-induced alternative to RRM2, is of unclear importance for ACC. Upon extensive drug screening, including a large panel of classical chemotherapies (doxorubicin, etoposide, ...