Endocrine Abstracts

Turner Syndrome (TS) is a multi-systemic genetic condition in females caused by partial or complete deletion of one X chromosome. It affects approximately 25-50 per 100,000 live births. Recent data shows that up to 60% of patients with TS will experience recurrent otitis media and 30% will suffer permanent hearing impairment. International guidelines recommend audiometric screening at diagnosis, every three years in childhood and at least every five years in adulthood for TS p...

Introduction: Primary parathyroid carcinoma accounts for less than 1% of the parathyroid gland tumours and almost always presents as primary hyperparathyroidism. Very few Turner syndrome patients have been reported so far to present with primary hyperparathyroidism secondary to parathyroid adenoma. We report a case of parathyroid carcinoma in a 59 years old lady with Turner syndrome who is presenting with recurrent mild hypercalcemia.Case presentation: A...

Background: Turner syndrome is a lifelong condition that requires lifelong engagement with health services. The Paediatric Endocrinologist has a role in developing a plan for transition and establishing follow-up in an adult clinic. A clinic proforma outlining expected investigations during transition has been in use in the Glasgow Turner clinic since 2015 based on the recommendations of the Turner Syndrome Study Group. More recently The Endocrine Society Transition Toolkit ha...

Turner syndrome (TS) is the most common chromosomal anomaly in females and its occurrence is about 1:4000 live births. This is the only monomer disease that humans can survive (1). It is characterized by the presence of one X chromosome and a partial or complete loss of the second X chromosome. Clinical features of TS can vary, mainly classified into Growth failure, gonadal insufficiency, cardiovascular diseases, or learning disabilities. Short stature is the only phenotypic a...

Introduction: Mixed gonadal dysgenesis with 45X/46XY mosaicism is considered to be a rare disorder of sex development. This condition is characterized by a phenotypically very heterogeneous clinical presentation. In fact, the individuals with 45X/46XY mosaicism ranged from phenotypically normal men with azoospermia, going through individuals with genital ambiguity, to women with Turner syndrome.Herein, we describe a phenotypically Turner-like female with...

Introduction: Women with Turner syndrome (TS) have a 13-year reduction in life expectancy compared to the general population. Cardiovascular disease (CVD), whether congenital or acquired, is the cause of death in around half of these women. Therefore, early identification of congenital heart defects, aortic abnormalities and risk factors for CVD is extremely important, and may have a significant impact on long-term outcomes of CVD in TS.Aim and methods: ...

Case History: A 16 yr old patient presented to us concerned about her short statue. Her father and mother were at the 9th centile and her sister was at the 25th centile in adult life. She was otherwise well having gone through a normal puberty in her early teens and was currently on the oral contraceptive pill having regular periods. On examination she did display some features of Turner’s syndrome; short stature, short neck and cubitus valgus deformity. Cytogenetic analy...

Objectives: To evaluate the efficacy of growth hormone (GH) treatment in children with Turner syndrome (TS) and to analyze the factors affecting the success of treatment.Methods: Retrospective observational study was conducted for 62 patients with TS. 3 groups of patients were identified: group 1 with karyotype 45, X (n=32), group 2 with mosaic variant 45,X/46,XX (n=8), group 3 with structural anomalies of X chromosome (n=22). ...

Background: In 2007, the Turner syndrome (TS) consensus study group developed an international guideline for clinical care of girls and women with TS. Given emerging concerns of long term cardiovascular complications, the consensus recommends that cardiac MRI should be performed when girls are old enough to tolerate the procedure or at the time of transition and to be repeated at least every 5–10 years.Method: We conducted a survey ...

Introduction: Individuals with Turner syndrome (TS) are prone to develop autoimmune conditions. The most frequently found are Hashimoto’s thyroiditis, type 1 diabetes, coeliac disease, and inflammatory bowel disease. In patients with TS, Addison’s disease isolated or combined with other autoimmune disease as type 2 polyglandular autoimmune syndrome, is a rare finding.Case report: We report a case of a 41-year-old female patient, with severe ast...