Endocrine Abstracts

Introduction: Short stature is a common feature in Turner syndrome. It is caused by haplo-insufficiency of the SHOX gene. Growth hormone deficiency does not occur in this disorder as confirmed by the normal GH response to stimulation tests. However, few cases of coexisting GH deficiency and Turner syndrome have been reported. We herein describe two cases of GH deficiency in patient with Turner syndrome.Observation 1: A 20-year-old patient was referred fo...

Introduction: In 2009, the Turner’s Syndrome Support Society UK released a checklist for the management of Turner’s Syndrome patients. The aim of this audit was to evaluate how well we are doing as a Tertiary Paediatric endocrine unit in meeting these required standards of care.Method: We performed a retrospective audit in June 2016 of patients diagnosed with Turner’s Syndrome in our unit between 2007 and 2015 using the Electronic Care Rec...

Background: Turner Syndrome (TS) is a complete or partial loss of the second X chromosome affecting approximately 1:2000 females, classically associated with short stature and hypogonadism. Cardiovascular complications in TS include increased risk of congenital cardiac malformations, hypertension, ischaemic heart disease and aortic dissection. Cardiovascular related deaths account for over 40% of the excess mortality in TS and requires lifelong monitoring and follow-up. The Cl...

IntroductionWomen with Turner Syndrome (TS), characterised by the complete or partial absence of one X-chromosome in females, are reported to have an increased risk of coeliac disease, inflammatory bowel disease and angiodysplasia. These may contribute to iron deficiency and anaemia through malabsorption or blood loss. This study screened the serum ferritin and haemoglobin measurements in an adult TS population.MethodSerum ferritin concentrations were measured in 1...

Modern methods of induction of ovulation and assisted conception techniques have offered renewed hope for many infertile couples, including those with genetic causes of infertility. Turner's syndrome is, of course, characterised by primary ovarian failure and although spontaneous ovulation and conceptions have occasionally been reported, (usually in mosaic forms of Turner's) these events are rare and unpredictable. Attempts to induce ovulation are futile. The most realistic ch...

Introduction: Turner syndrome (TS) is a chromosomal disorder affecting female and characterized by complete or partial monosomy of the X chromosome. These genetic changes lead to the abnormalities in growth and development and increase the risk of autoimmune diseases, including those affecting the thyroid. Thyroid pathology in TS may include autoimmune thyroiditis, hypothyroidism, thyrotoxicosis (Graves disease, AIT in the hyperthyroid state). Thyrotoxicosis is the clinical sy...

Turner's syndrome is the most commonly occurring chromosomal abnormality in females. Adults with Turner's have a threefold increase in mortality and life expectancy is reduced. Recent recommendations for the follow-up of women with Turner's syndrome include annual checks of thyroid function, serum lipids, blood glucose, liver function, renal function, and 3 to 5 yearly echocardiography, bone densitometry, and audiogram.We have reviewed actual follow-up m...

Background: Turner syndrome (TS) is an important cause of short stature, however, there are a few reported cases of concomitant occurrence of TS and growth hormone deficiency (GHD).Case report: We report a 23-year-old female with concominat TS and GHD, also presenting partial FSH/LH deficiency and primary myxedema. The patient had iniatially been evaluated at the age of 15 for short stature and primary amenorrhea when she was diagnosed with Turner syndro...

Hypophosphataemia is a common mineral metabolic abnormality affecting 2-3% of all hospital in patients and up to 34% of ICU patients. The causes are numerous. Over the last two decades following the identification of Fibroblast growth factor-23 (FGF-23) as the phosphaturic hormone responsible for Autosomal Dominant Hypophosphataemic Rickets (ADHR) in 2000 there has been an explosion in the understanding of phosphate homeostatic physiology and disorders of phosphate homeostasis...

Immune checkpoint inhibitors are a new group of monoclonal antibodies against checkpoints in normal T Lymphocyte activation enabling immune system activation in order to target cancer cells. First used for treatment of melanoma in 2011, they are currently indicated for management of an increasing spectrum of malignancy. Endocrinopathy secondary to checkpoint inhibitors is commonly observed. This has led to a new group of patients requiring specialist investigation, management,...