Endocrine Abstracts

Introduction: Long-standing type 2 diabetes (DM) is associated with brain atrophy. In this prospective study we examined the impact of glycaemic status on total brain volume in an elderly cohort.Methods/Design: Two-year follow-up study of a population-derived cohort of non-demented community-dwelling adults aged 70–90 years (Sydney Memory and Aging Study). Prospective MRI and metabolic data were available in 312 of the 542 participants who had a MRI...

Polycystic ovary syndrome (PCOS) is a triad of insulin resistance, hyperandrogenism and anovulation. PCOS is associated with increased adrenocortical drive, which may have adverse metabolic consequences. Here we analysed the relationship of urinary androgen and glucocorticoid metabolite excretion with insulin resistance in a large PCOS cohort.We compared results from 127 PCOS patients (Rotterdam criteria) with 100 BMI-matched controls. All subjects under...

Preliminary data from the French SAGhE study of 6928 pts with isolated idiopathic GH deficiency (IsIGHD), idiopathic short stature (ISS) or born small for gestational age (SGA) who started GH treatment during childhood (1985–1996) & were followed up in 2009, suggested increased mortality vs the French general population (pop; standardized mortality ratio (SMR): 1.3, 95% confidence interval (CI): 1.1–1.6; 116 403 person-years (PY))1.<p class="abstex...

Introduction: Defects in the pseudogene, CYP21A1P, can be transferred to the functional CYP21A2 gene by recombination and account for approximately 95% of CYP21A2 mutations, leading to CAH-21OHD. We conducted a comprehensive genetic analysis to assess whether Multiplex Ligation dependent Probes Amplification (MLPA) could substitute southern blotting with radioactive probes without compromising reliability of the diagnosis.Patients and Methods: We studied...

Background: Cytochrome P450 side-chain cleavage enzyme (CYP11A1) catalyses the first and rate-limiting step of steroidogenesis. CYP11A1 firstly converts cholesterol into 22R-hydroxycholesterol, which relies on mitochondrial steroidogenic acute regulatory protein (StAR)-mediated cholesterol import. Two further StAR-independent CYP11A1 reactions facilitate pregnenolone biosynthesis. CYP11A1 deficiency is rare and manifests with adrenal insufficiency (AI), and, in 46,XY individua...

Similarly as in autoimmune Addison’s disease (AAD), diagnosed in about 80% of primary adrenal insufficiency, idiopathic isolated secondary adrenal insufficiency (ISAI) seems to have an autoimmune origin.Within the last 35 years we have registered in our Department 325 patients with ISAI (F/M ratio 10.9) aged 17–87 years. In comparison, we have in our registry 241 patients with AAD, collected within over 40 years. The diagnosis of ISAI was based...

Background: In case of inoperable disease or tumor recurrence, there are only a few medical treatment options for patients with adrenocortical carcinoma (ACC). The oral alkylating drug Temozolomide (TMZ) shows efficacy in a subset of patients with melanoma, glioblastoma or pancreatic neurendocrine tumours. Response to TMZ seems determined by the tumoral expression level of the DNA repair enzyme O(6)-Methylguanine-DNA methyltransferase (MGMT).Aims: To eva...

Osterix (Osx) is an essential transcription factor for osteoblast differentiation and bone formation. Osx null mutants died perinatally with a complete absence of bone formation and Osx conditional knockouts in osteoblasts showed the osteopenic phenotype after birth. Even in Osx heterozygous mice with normal bone morphology, the reduced cortical thickness and osteoblast differentiation were observed by QCT and in vitro cell culture, respectively. This result exhibited t...

Women’s bone metabolism is regulated by estrogens and interleukins. During the menopausal period the estrogens’ protective activity is decreased and the production of IL1β and IL6 is increased.The aim of the studyThe assessment of the dependency between IL1β i IL6 and estradiol values and BMD and IBM in postmenopausal women.Material: Forty-eight women, age 49–61, without menstruation ...

Background: The study aimed to evaluate quality-of-life (QoL) aspects and impact of vitamin D deficiency in primary hyperparathyroidism (pHPT).Method: One hundred and fifty consecutive patients (119 women) with pHPT (mean age 60±11 years; BMI 27±5 kg/m2; ionized calcium 1.44±0.08 mmol/l; PTH 130±69 ng/l) were included. Six weeks postoperatively, the pHPT patients were reexamined and randomized (double-blind) to daily substi...