Endocrine Abstracts

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...

In Turner persons questionnaire surveys have identified quality of life, perception of health and education to be at a similar or higher level compared to the background population. To shed further light on these seemingly paradoxical findings in Turner persons we aimed to analyze various socio-economic parameters in Turner persons compared to an age-matched female background population.All diagnosed Turner syndrome women nationwide (n=977) were i...

Turner Syndrome (TS) is defined as the combination of characteristic physical features in phenotypic females and complete or partial absence of the second sex chromosome. Short stature is a constant clinical finding in patients with TS. We report the case of a 18 year old female with TS and normal stature. Primary amenorrhea was the reason for the first clinical presentation. Laboratory evaluation showed hypergonadotropic hypogonadism, low oestrogens and testosterone. A pelvic...

Introduction: The growth failure constant in turner syndrome is responsible for a spontaneous reduction in adult height with an average of 143 cm. Treatment with growth hormone has enhanced the stature prognosis.Aim: Studying the final size of turner patients who have completed their growth.Population, methodology: 40 patients became adult patients were assessed on linear growth. The following factors were studied: The age and size...