Endocrine Abstracts

Introduction: Turner syndrome (TS) is female genetic disorder arrising from loss of X-chromosome material, associated with characteristic physical neuropsychological features.Objective: Examine peculiarities of body composition, cognitive functions, emotional state, quality of life (QoL) of TS patients after discontinued growth hormone (GH) therapy.Patients and methods: Eighteen girls (age 21.47±4.09 years) with diagnosis of T...

IntroductionWomen with Turner Syndrome (TS) have an increased risk of diabetes mellitus (DM), both types 1 and 2, and obesity is a common problem. This study aimed to characterise the relationship between markers of obesity and metabolic factors which might predispose to DM.MethodAnthropometric and fasting metabolic assessments were performed in 56 non-diabetic women with TS and 24 control women (mean±...

Objectives: To evaluate the prevalence and characteristics of thyroid diseases in children with Turner syndrome (TS).Methods: This is a retrospective study, analyzing clinical data from medical records of 19 patients with TS from 3 to 17 years (average age 12.02±4.0 years), who were regularly followed-up in the University hospital (Minsk). Depending on the karyotype, 3 groups of patients were identified: the first group with karyotype 45, X (n</...

Background: Turner’s syndrome is the most common sex chromosome abnormality in females resulting from a 45,X cell line. A mosaic chromosomal complement (e.g. 45,X/46,XX) is detectable in over half of all patients with Turner’s. Characteristically girls with Turner syndrome have a short stature attributable to the presence of SHOX (short stature homeobox-containing gene on the X chromosome) gene. Most affected women have no pubertal development and primary am...

Approximately 20% of women with Turner syndrome (TS) proceed normally through puberty with spontaneous menstruation. An increasing number of women with TS are taking advantage of oocyte cryopreservation which is becoming widely available. It may be expected however, that controlled ovarian stimulation would result in fewer than expected number of oocytes compared to women without TS. We report our initial results from women with TS undergoing this procedure.<p class="abste...

Case history: FK is an 18 year old female, who attended the Turner’s syndrome clinic in our tertiary centre with primary amenorrhoea. Her family are originally from Ghana but she was born in Italy and lived there until moving to the UK in 2016. She was born full-term by normal delivery and Turner’s syndrome was diagnosed at 3 months of age due to characteristic phenotypic features. She was managed by the paediatric endocrinologists in Italy and was on growth hormone ...

Introduction: A Patient Held Record (PHR) has been developed for use in adolescent girls with Turner Syndrome (TS) attending a dedicated Turner Transition clinic, RHC Glasgow. The PHR has been devised to encourage knowledge of TS; medcial care and ways to maintain good health and to promote self advocacy.Aim: To assess patient acceptability and user friendliness of a PHR in adolescent girls with TS.Method: A PHR and questionnaire w...

New international clinical guidelines have just been published, based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. These guidelines were initiated and developed by ESE in Europe, and by PES in USA, with important contributions from ESHRE, Endocrine Society, ESC, AHA, Society for Endocrinology, and ESPE.Morbidity and...

New international clinical guidelines have just been published, based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. These guidelines were initiated and developed by ESE in Europe, and by PES in USA, with important contributions from ESHRE, Endocrine Society, ESC, AHA, Society for Endocrinology, and ESPE.Morbidity and...

Management of children with Turner’s syndrome in the Paediatric Endocrine Service in the last 15 years were reviewed retrospectively. There were 19 children with age range from 2 to 16 years.The age distribution at diagnosis showed 12/19(63%) diagnosed below 1-year-old of those 5/12 (42%) were diagnosed by amniocentesis. 4/19 were diagnosed between 1 and 5 years old, only 3/19 came to medical attention after 10 years of age. Two were mosaic karyotyp...