Endocrine Abstracts

It is paramount that any adolescent with a suspected disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD. If there is any doubt, the case should be discussed with the regional team. In most cases, a named endocrinologist within the regional DSD team acts as the first point of contact. The underlying pathophysiology of DSD and the strengths and weaknesses of the tests that can be per...

Fragility fractures in the young individual are an uncommon clinical scenario and when faced with such a situation, appropriate assessment is required to ensure correct diagnosis of the underlying aetiology and to avoid unnecessary interventions. Although, primary causes of osteoporosis such as osteogenesis imperfecta are considered rare, this group of conditions has considerable phenotypic and genotypic heterogeneity and may be underdiagnosed. However, the majority of the you...

Introduction: Although a number of studies have reported on the External Masculinisation Score (EMS) and have validated its use for numerical descriptions of the external genitalia, the methodology in these studies has not considered longitudinal changes in EMS.Objectives: To examine longitudinal changes in EMS in boys with XY Disorders of Sex Development (DSD) and determine the causes of these changes.Methods: All boys of confirme...

Background: Girls with Turner Syndrome (TS) are at increased risk of primary ovarian failure. Previous studies have demonstrated that urinary gonadotrophins (UG) can be used as a non- invasive biochemical marker of pubertal status but their value in monitoring and managing girls with primary ovarian failure is unclear.Aims: To determine the range of UG in girls with Turner Syndrome (TS) and its correlation to serum LH and FSH.Patie...

Background: High-resolution magnetic resonance imaging (hrMRI) can assess trabecular bone microarchitecture but the number of image slices required for reliable assessment is unclear.Methods: MRI was performed just below the growth plate of the proximal tibia from 20 healthy controls (all females; median age 21 years (range 18.35) and ten cases (3M:7F; median age 19.5 years (range 16.48) with known bone abnormalities including osteogenesis imperfecta and...

Introduction: Metformin is widely used as oral anti-hyperglycaemic agent to treat type 2 diabetes, with increasing reports of an additional, potential bone protective role.Objective: We investigated the role of AMPK in mediating the effects of metformin on the differentiation of mesenchymal stem cells (MSCs) to either osteoblasts or adipocytes.Methods: Confluent murine MSCs (C3H10T1/2) were treated with metformin (500 μM), a k...

Background: Vertebral Fractures (VF) are recognized as an important aspect of bone health in children and adolescents. The clinical utility of vertebral fracture assessment (VFA) using dual-energy X-ray absorptiometry (DXA) has not been evaluated in the paediatric population.Method: VFA was performed independently by two non-radiologist observers, in 165 patients (77M/88F) as part of their investigation for low bone mineral density. Lateral thoracolumbar...

Introduction: Insulin sensitising agents are reported to have a diverse range of effects on bone with metformin exerting positive effects and thiazolidinenediones (TZDs) exerting negative effects. 5′AMP-activated protein kinase (AMPK) plays a critical role in cellular energy homeostasis. It is widely expressed in the body and can be activated by metformin.Aim: We investigated the role of AMPK pathway in mediating the effects of metformin on the ost...

Introduction: In children undergoing investigation of testicular function the relationship between serum anti-Müllerian hormone (AMH) and the testosterone response to hCG stimulation test (HST) is unclear.Methods: 71 children (three females and 68 males) with a median age of 1.08 years (range: 0.003, 14.3) were investigated for suspected DSD by AMH on D1 and testosterone on D1 and D4, before and after 3-day HST. Of these children, 27 had an addition...

Background: Severe primary IGF1 deficiency (SPIGFD) is defined in children as a height less than −3sds, low IGF1 levels with normal growth hormone levels. Recombinant IGF1 (rhIGF1, Mecasermin) given twice daily as a subcutaneous injection is the only therapy available to improve the height potential in this group of children. However it may have important side effects including hypoglycaemia, growth of lymphoid tissue and injection site lipohypertrophy.<p class="abst...