Endocrine Abstracts

Short stature (SS), defined as height ≤−2 SDS for a given population, comprises ~50% of new patient referrals to paediatric endocrine clinics. Since >80% SS children in the UK do not receive a clear diagnosis, enhanced genetic testing and stratification is a fundamental need. Whole-genome sequencing (WGS) was offered to rare disease patients recruited to the 100 000 Genomes Project (100KGP), leading to new clinical diagnoses in ~25% of participants. The 100KGP ...

Introduction: Liver function test abnormalities (LFA) are common in patients with Turner syndrome (TS). The etiopathogenesis of this complication remains unclear, probably being multifaceted. Metabolic syndrome, generalized vasculopathy, and autoimmunity have been proposed as possible causal mechanisms.Objectives: - To describe the prevalence and possible related factors of morpho-functional liver abnormalities in TS adult patients. - To evaluate the uti...

Objective: The present study was designed to investigate the impact of insulin treatment on placental maternal and fetal vascular circulation in obese and non-obese women with gestational diabetes mellitus (GDM).Design and methods: One hundred and ninety two women with GDM who gave birth and underwent a placental histopathological examination at Wolfson Medical Center were included in the study: 123 women who were treated with diet (Group 1) and 69 women...

Background: Male hypogonadism is defined by low circulating testosterone level associated with signs and symptoms of testosterone deficiency. Although the bidirectional link between hypogonadism and cardiovascular disease has been clarified recently, the association between testosterone and chronic heart failure (CHF) is more controversial. Methods: We critically review published studies relating to testosterone, hypogonadism, and CHF and provide practic...

Androgen deprivation therapy is the choice treatment of metastatic prostatic tumors. Unfortunately, very often, resistance occurs and chemotherapy is needed. Results are however disappointing with frequent side effects. Therefore, new therapeutic approaches for metastatic and advanced prostate cancer are necessary. DKK1, an inhibitor of the Wnt signaling pathway, is increased in different types of cancer. In prostate cancer patients with bone metastases, an increase of DKK1 is...

Objective: To investigate whether routine assessment of free testosterone improves the diagnostic accuracy of functional male hypogonadism.Methods: Total and free testosterone (calculated through SHBG assessment) were determined in 372 male patients (median age 44) referring to our department for sexual symptoms symptoms (188 patients) or infertility (184 men). Low total and free testosterone were defined as < 2.31 ng/ml and <63 pg/ml, respective...

Introduction: Milder forms of central hypothyroidism (CeH) are still challenging to diagnose due to absence of gold standards, wide variability of fT4 values and aspecificity of symptoms. We aimed to find diagnostic clues at diagnosis (pituitary lesion dimensions, other hormonal deficit) and during long-term follow-up, guiding the clinician to a precocious diagnosis of CeH.Study: 142 patients harbouring a pituitary adenoma with complete pituitary assessm...

Diagnosis of Central Hypothyroidism (CeH) is commonly given when FT4 concentrations are below the lower limit of normal range. A reduction in FT4 concentrations greater than 20% was proposed in ETA 2018 Guidelines as an unphysiological fluctuation indicating the onset of milder forms of CeH with FT4 still within the normal range. Similarly, TSH-index was proposed to quantify thyrotrope reserve, hence as a tool to detect patients at risk of CeH. Here we verified the performance...

Background and aims: There is evidence that new anti-diabetic drugs may limit liver disease progression, reduce liver fat and normalize serum aminotranferase levels in patients with NAFLD. We compared the effectiveness of new drug classes on liver fat in T2DM patients by means of surrogate markers.Materials and methods: In an observational retrospective study we analysed the 12-month time-courses of clinical and anthropometric data of T2DM cases treated ...

Adrenocortical carcinoma (ACC) is a rare, heterogeneous malignancy with aggressive behavior and poor prognosis, particularly when metastatic at diagnosis. To date, radical surgery, possibly associated to mitotane adjuvant therapy, is considered the best option for ACC treatment. However, the mean 5-year survival rate diminishes dramatically in metastatic ACC and chemo-resistance often develops. Thus, more specific and effective drugs for ACC treatment are urgently required. Th...