ESPE Abstracts

Turner syndrome (TS) is the most common genetic disease associated with the X-chromosome abnormality. Sex chromosome monosomy (45,X) occurs in 40–50% of the cases. 5% of patients with TS, in addition to cells lacking the genetic material of the X-chromosome, have a cell line with Y-chromosome, whether complete or not, which can be clinically manifested by virilization and mixed gonadal dysgenesis. Early identification of the Y-chromosome genetic material in patients with...

Background: Short stature is the most common presenting symptom in Turner Syndrome (TS). GH treatment helps alleviating short stature in TS, although response to treatment varies significantly.Objective and hypotheses: We aimed to evaluate the response to GH treatment and factors affecting this response in children with TS.Method: Forty-nine patients with TS diagnosed by cytogenetic analysis and who had been followed minimum of 1-y...

Background: In 2007, the Turner syndrome (TS) Consensus Study Group developed an international guideline for clinical care of girls and women with TS. Given emerging concerns of long term cardiovascular complications, the consensus recommends that cardiac MRI should be performed when girls are old enough to tolerate the procedure or at the time of transition and to be repeated at least every 5–10 years.Method: We conducted a survey of cardiovascular...

Background: Turner syndrome (TS) is a common aneuploidy diagnosed by peripheral-blood-cell (PBC) karyotyping. Karyotyping is costly, time-staking and subject to manual errors. Quantitative real-time PCR (qPCR) is a cheap molecular diagnostic test which can detect several samples of TS within hours.Objective: To assess the performance of qPCR in detecting TS and variants.Methods: Ge...

Introduction: Characteristics of the Turner syndrome (TS) include congenital gonadal dysgenesis resulting in disturbed sexual maturation. Only 20 % of patients with TS menstruate spontaneously. In most cases pharmacological puberty induction is required to maintain female secondary sex characteristics and menarche. Preferred age of start of estrogen replacement is between 11 and 12 years with gradual increase of dose during 2–3 years.<p class="abstex...

Background: A reduced reproductive lifespan is one of the most significant implications for girls with Turner syndrome (TS) and is due to an accelerated loss of ovarian insufficiency. Lately, there has been a surge in scientific research aimed at whether ovarian tissue cryopreservation (OTC) is a viable option for fertility preservation in girls with TS. This required a unilateral ovariectomy for girls with TS who may already have a poor ovarian reserve.<p...

Turner syndrome(TS) is a chromosomal disorder which occurs in 1/2500 - 1/3000 among female live births, characterized by short stature, pubertal failure and cardiac defects. Mosaicism of 45X/47XXX is extremely rare and accounts for 1.7% of the TS cases. TS with 45X/47XXX is more likely to have spontaneous puberty. The case we present herein is a 13-years old girl who was admitted to Chuncheon sacred heart hospital due to severe anemia. She was diagnosed with Turner syndrom...

Background: A patient with both Prader-Willi syndrome and mosaic Turner syndrome is extremely rare. We performed fMRI and euglycaemic-hyperinsulinaemic clamp test for her.Case presentation: A 17-yr-old girl was diagnosed as Prader-Willi syndrome by her clinical investigations including poor feeding in infancy, hyperphagia, developmental delay, mental disorders, behavior problems, thin upper lip, almond-shaped eyes, acromicria and genital hypoplasia. Mate...

Context: Turner syndrome (TS) is associated with short stature, delayed puberty, primary ovarian insufficiency, infertility, and other features. The majority of girls with TS require pubertal induction and life-long oestrogen replacement therapy. There is paucity of data in adult TS on the efficacy of pubertal induction, such as breast satisfaction. Patient-related outcome measures (PROMs) assess the quality of care and treatment from the patient’s persp...

Background: Turner syndrome (TS) is a genetic disorder caused by X chromosome monosomy (45,X0) or partial absence of the second sex chromosome, with or without mosaicism. An increased frequency of autoimmune diseases and metabolic disorders has been observed in Turner patients.Objective: To compare Turner monosomy to the other X chromosome abnormalities with regards to occurrence of autoimmune diseases and metabolic disorders.Metho...