Endocrine Abstracts

Introduction: Turner syndrome (TS) is the most common chromosomal abnormality in women. It occurs in 1/2500 to 1/3000 live-born females and results from a total or partial absence of the X chromosome. The clinical manifestations are diverse and TS is accompanied by multiple medical problems.Methods: We analysed retrospectively six cases of women with TS aged 20–66 years, treated at Endocrinology Department between 2003 and 2014, to describe endocrin...

Background: Cholesteatoma, a serious suppurative middle ear condition, has an increased prevalence in Turner syndrome (TS).Aims: To estimate its incidence in our TS population; identify risk factors; highlight distinctive operative findings; and suggest strategies for earlier detection.Methods: Retrospective casenote review for patients attending a TS clinic to identify those with cholesteatoma; each age-matched with three unaffect...

Background: Turner syndrome (TS) predisposes to autoimmune diseases such as thyroiditis, coeliac disease, diabetes mellitus type 1, inflammatory bowel diseases, alopecia and vitiligo. The prevalence of autoimmunity increases with age and more than one autoimmune disease can coexist together in one patient. The possible factors leading increased autoimmunity in TS are not clear.Aim: To compare the panel of autoimmunity markers in 37 TS girls (40.5% with 4...

Introduction: Many studies demonstrated that 40%-60% of Turner patients were 45,X monosomy in blood lymphocytes, whereas the remaining patients had a structurally abnormal X- or Y-chromosome or were mosaics with a second cell line containing a normal or an abnormal sex chromosome.Case Summary : Five years old girl was brought to pediatric clinic for short stature. On exam, her height was 92 cm (<3th percentile), body weight was 13.3 kg (<3th perc...

Introduction: Turner’s syndrome (TS) or Ullrich-Turner’s syndrome is genetic condition that affects only females. It is characterized by typical physical features and complete or part absence of one of the X chromosomes. Women with TS have been reported to be at increased risk of autoimmune diseases as compared with other women. Idiopathic thrombocytopenic purpura (ITP), isolated low platelet count (thrombocytopenia) with normal bone marrow and the absence of other c...

Introduction: Turner syndrome is a common cause of dwarfism and hypogonadism as is pituitary failure. However the association of the two is rarely thought and reported in the literature. We present two cases of women with hypogonadism diagnosed with Turner syndrome with various degrees of pituitary insuficiency.Case report: The first case presented at 16 years with secondary amenorrhea and showed slightly disharmonic dwarfism. A hypogonadotropic hypogona...

Turner syndrome results from the complete or partial lack of one X chromosome and occurs in approximately 1:2500 female live births. The incidence of spontaneous puberty in the 45, X karyotype is about 9%. Spontaneous pregnancy has been reported in less than 5% of the cases, the majority of which have been described in subjects with mosaicism; these are often associated with high rates of miscarriage and stillbirth.A 51-year-old check-out supervisor was ...

Background: Studies have shown that the overall risk of cancer is not increased in Turner syndrome (TS). However, the pattern of cancer occurrence may be different than in the background population.Aim: To describe the cancer morbidity pattern in TS.Design: Nationwide epidemiological study using Danish registries on morbidity.Methods: 1,156 Females with TS diagnosed during 1960–2014 were identified using...

Introduction: Turner Syndrome (TS) is known to be associated with congenital malformations and a greater incidence of autoimmune disease. Many others organs systems are also affected to varying degrees and at different stages of life such as abnormal liver function. This disease is often detected on routine investigation and is not accompanied by signs or symptoms of liver disease. We report the case of a young Turnerian who presents a disruption of his hepatic balance with a ...

Introduction: Turner’s syndrome, also known as 45 X, or 45 X0, is characterised by the absence of one of the pair of X chromosomes. Clinical features are variable, and affected girls require regular review to identify and manage these. The Turner’s Syndrome Support Society has produced a health checklist for the management of Turner’s Syndrome, which provides a schedule for investigations. The aim of this audit was to evaluate whether we are meeting these standa...