Endocrine Abstracts

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...

Objective: Considering that the patients with Turner syndrome (TS) have a high prevalence of autoimmune disease, an early investigation for digestive system diseases should be carried out in those with TS.Case 1: A 13-year-old girl, followed for Turner’s syndrome with characteristic facial dysmorphia, developed glaring diarrhea. Colon and endoscopic endoscopic examinations have led to ulcerative colitis. It was put pentasa with a favorable evolution...

Background: Girls with Turner Syndrome (TS) are at increased risk of primary ovarian failure. Previous studies have demonstrated that urinary gonadotrophins (UG) can be used as a non- invasive biochemical marker of pubertal status but their value in monitoring and managing girls with primary ovarian failure is unclear.Aims: To determine the range of UG in girls with Turner Syndrome (TS) and its correlation to serum LH and FSH.Patie...

Background: The Turner Syndrome Life Course Project, UCLH, has collected data on 810 women with TS, attending clinic for 20 years and has accumulated over 8000 clinic visits. We present an analysis of the effects of timing and type of exogenous oestrogen on health outcomes in adults.Methods: A cross-sectional analysis of 475 subjects with primary amenorrhoea with accurate age of pubertal induction data was performed using correlation coefficients control...