Endocrine Abstracts

Purpose: Non-Obstructive Azoospermia (NOA), occurring in approximately 1% of men, has an unknown etiology in the majority of cases. This study aims at evaluating the diagnostic efficiency of a gene panel contemplating all known genes associated with azoospermia in mice.Subjects and methods: Design of a ‘mouse azoospermia’ gene panel through the consultation of MGI; selection of 175 mouse azoospermia genes with human orthologues; selection of 31...

Aim of the study was1. To assess the thyroid function in pregnancy in the course of effective iodine prophylaxis model introduced in 1997, based on obligatory salt iodization.2. To exam glucose tolerance and insulinemia in pregnancy.Methods: TSH, fT4, aTPO, urine iodine concentration, usg thyroid volume and homogeneity, glucose and insulin during OGTT, blood pressure, BMI, and thyroid function and glucose met...

Background: The etiology of non-obstructive azoospermia (NOA) remains unknown in about 40% of cases and genetic factors are likely to be involved in a large proportion of them. Gene mutations involved in stem cell proliferation and DNA repair may cause isolated NOA or be responsible for syndromic diseases, such as Fanconi Anemia (FA). Although the most frequent presenting symptom in FA is bone marrow failure in childhood, in about 10% of cases the diagnosis is delayed until ad...

Background: Non-obstructive azoospermia affects about 1% of men and has a multifactorial etiology with heterogeneous testicular histology. Pure spermatogenic maturation arrest (MA) is a relatively rare NOA phenotype but its clinical relevance is high, since patients affected by MA should not undergo invasive testis surgery. A clear-cut distinction between MA and other spermatogenic disturbances leading to azoospermia is not possible with the currently available clinical tools....

Background: Women with a history of gestational diabetes mellitus (GDM) are at increased risk for diabetes and lipid alterations.Objective: In a cohort of women with previous GDM, we aimed to ascertain whether women with abnormal glucose tolerance one year post-delivery had a more atherogenic lipid profile after pregnancy than those with normal glucose tolerance.Design and patients: A descriptive study of GDM women who underwent pr...

Background: Amyloidosis is defined as the accumulation of amorphous, proteinaceous material in different parts of the body. It can be primary or secondary, having decreased the incidence of this last one due to the current therapeutic landscape of infectious and autoimmune diseases. This material can be deposited in the thyroid gland resulting in an enlargement known as Amyloid goiter. Although amyloid infiltration in thyroid is common, the occurrence of clinically enlarged th...

Introduction: The autosomal dominant multiple endocrine neoplasia type 1 (MEN1), characterized by parathyroid hyperplasia (PH), neuroendocrine digestive tumours (NET) and pituitary adenomas (PA), is due to mutations in the tumor suppressor gene MEN1 encoding a 610-amino acid protein, menin. Guidelines recommend MEN1 mutational analysis in index cases with two or more MEN1-associated tumours, in first-degree relatives of mutation carriers and when clinical dat...

A 65-year-old female, with a 4 month history of left upper quadrant discomfort, was identified as having a multi-loculated para-renal ‘cyst’ on ultrasound scanning. CT identified a 13×11×10 cm heterogeneous mass arising from the left adrenal. An enlarged ill-defined left retro-crural ‘lymph node’ was also noted. There was no history of weight loss. Past medical history was unremarkable. She was no medication. Examination was unremarkable apart fro...

Aims: Both functional hypogonadism (FH) and type 2 diabetes (T2D) negatively affect bone mineral density (BMD). We aimed to evaluate changes on bone turnover markers (BTMs) and BMD in obese males with FH and T2D due to testosterone therapy (TTh).Research Design and Methods: 55 obese males with FH and T2D participated in a two-year (first year double-blind, placebo-controlled study, second year follow-up) clinical trial. Participants were randomized into ...

Aims: Testosterone therapy (TTh) has been postulated to increase the risk of prostate adverse events (PAEs) and erythrocytosis, risk further exacerbated in high-risk obese patients with type 2 diabetes (T2D) and functional hypogonadism (FH). We investigated safety aspects of TTh in obese males with FH and T2D by observing the incidence of PAEs and erythrocytosis and determining when statistically significant difference from the baseline manifests in hematocrit (Hct) and prosta...