Endocrine Abstracts

Background aim of the work: IGSF-1 encodes a plasma membrane immunoglobulin superfamily glycoprotein that is abundant in the pituitary and testis. Loss-of-function causes an X-linked syndrome which is mainly characterized by congenital hypothyroidism and macroorchidism.[1,2] Because of its relatively recent discovery and its very rare incidence, the time to diagnosis is often long. We present a case of IGSF1 deficiency case where it took 6 years before diagnosis was made. With...

Introduction: Thyroid disorders affect metabolism and body composition; however, literature data have been conflicting on whether this is also the case for thyroid hormone levels within the euthyroid range. Therefore, we have investigated the relationship between indices of thyroid status and both body composition and metabolic parameters in a population of healthy euthyroid men.Methods: Healthy male siblings (n=941, 25–45 years, median BMI 2...

Introduction: Male gender, adolescence and obesity are known risk factors for upper limb fractures, although the mechanism by which obesity confers the increased fracture risk is unknown. In addition, most studies investigating the influence of body fat mass on bone in adolescents have been performed in school based populations using the DXA technique, which does not take into account the material and geometric bone properties.Methods: We investigated vo...

Introduction: We describe a monozygotic twin pair, of which one boy was diagnosed with anorchia. Both were followed-up till age 17.Case report: At birth, in one twin 46 XY boy (A), testes were not palpable while his brother (B) was unaffected. Stimulation with human chorionic gonadotrophin (hCG) and orchidopexia were unsuccessful at age 3. A second hCG-stimulation test was performed at age 8, where serum testosterone response failed to increase. No testi...

Introduction: Thyroid disorders affect body composition; however, few studies have addressed the effect of variation of thyroid hormone status within the euthyroid range on body composition. Therefore, we investigated the relationship between indices of thyroid status and body composition in a population of euthyroid men.Methods: Healthy male siblings (n=677, 25–45 years, mean BMI 25.2) were recruited in a cross-sectional, population-based st...