Endocrine Abstracts

Background: Cystic lymphangiomata are rare benign tumours of childhood resulting from an abnormal development of the lymphatic system, most of which occur in the head and axillary region, referred to as cystic hygromas. Lymphangioma arising in the abdomen are particularly rare and the symptoms are variable. They usually affect boys and can be associated with specific genetic abnormalities, most notably Turners syndrome.Case: We report the case of a 14-ye...

Background: Prior to 2014 Portsmouth patients with Turners syndrome (TS) were seen in a variety of endocrine clinics. Screening investigations e.g. cardiac echo, necessitated further appointments. The Turners Syndrome Support Society (TSSS) recommend that ladies should be under the care of a specialist multi-disciplinary TS clinic, equipped to manage the specific medical problems associated with the syndrome.Innovation: Portsmouth Endocrine Department es...

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Background: BoneXpert software calculates bone health index (BHI) from 100 measurements of cortical thickness and mineralisation of three metacarpals. BHI-SDS is derived from 3,121 X-rays from 231 healthy Caucasian children, corrected for bone age (BA), estimated from the same x-ray.BHI-SDS is new with relatively unknown clinical utility. Strong correlations between BHI and dual-energy x-ray (DXA) absorptiometry and peripheral quantitative computed CT me...

Introduction: Turner syndrome (TS) is caused by the absence of all or some of the second sex chromosome. Consequences include short stature and ovarian failure. This study aimed to characterise karyotype-phenotype correlation in patients with TS.Methods: This was a retrospective audit of TS patients from the young person’s endocrine clinic (YPC). The karyotype, final height, pubertal progress and treatment were recorded for each patient and outcomes...

Background: Turner syndrome (TS) is characterised by a wide phenotype and age at presentation. We reviewed our over-12s Turner clinic over a period of 10 years to evaluate pattern of diagnosis, co-morbidities and management.Subjects and method: Retrospective data analysis of patients with TS who attended the over-12s clinic (2008–2017, n=28). Data is median (IQR) or mean±SD as appropriate.Result: The age at diagn...

Introduction: Turners’ syndrome (TS) affects one in 2500 live births. Multiple comorbidities affect TS patients and recommendations for long-term management advocate annual review with a ‘checklist’ approach. This audit of current practice of a specialist TS clinic aims to identify gaps in patients’ management.Methods: A checklist of recommendations for health screening based on the National Turner’s Syndrome Guidelines was devel...

Introduction: Turner Syndrome is a chromosomal disorder that is characterized by short stature and gonadal dysgenesis, affecting 1 in 2500 female live births. It is associated with a wide variety of conditions that could lead to significant morbidity and mortality if not followed up and managed appropriately. A multidisciplinary approach is important in the management of these patients. This audit aims to review the current practice of a specialist Turners Syndrome clinic in a...

Women with Turners Syndrome (TS) have been shown to have reduced bone mineral density (BMD) but there is uncertainty about how this relates to fracture risk. The little data that does exist is conflicting, with one case series finding no difference compared to controls and one survey suggesting an increased risk of fracture particularly of the forearm. Proposed mechanisms for reduced BMD include short stature, oestrogen deficiency and bone dysplasia. In addition, fracture risk...

Noonan syndrome (NS) is one of the most common non-chromosomal syndromes seen in children with congenital heart disease. Half of them have mutations in the PTPN11 gene, a gene that has a role in modulating cellular proliferation, differentiation, migration and it is required in several developmental processes. Height is not affected at birth, but during childhood short stature is present in about 80% with a less percentage being short at adult age due to delayed bone age and g...