ESPE Abstracts

Background: Short stature occurs in Trisomy 21 but it is relatively slight during childhood. Turner syndrome would contribute significantly to short stature but the combined occurrence of both syndromes, even Turner mosaicism is unusual and could result in significant short stature.Case: SP was referred for a growth assessment at 2.5 years. Her parents were counselled about short stature occurring in both syndromes but were worried that her height was si...

Females with Turner syndrome (TS) have a reduced life expectancy of about 13 years and a substantial excess mortality; about 50% of this is the result of cardiovascular pathology. Hypertension affects 20-60% of females with TS and is the single most modifiable risk factor for cardiovascular disease. However, hypertension in TS is both under-diagnosed and under-treated. The presentation details a practical approach to monitoring blood pressure and managing hypertension in TS. T...

An association between Turner syndrome (TS) and Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency is rare. TS is caused by partial or complete loss of the second sexual chromosome which leads to genital system malformation and infertility. 21-hydroxylase deficiency is a well-known cause of disorder of sexual development in genotypic female neonates.The aim of our study is to report this patient and stress this rare possibility. A 8-month-old patient sufferi...

Abstract: The risk of developing coeliac disease (CD) is higher in Turner syndrome (TS) than the general population, and screening has been recommended in asymptomatic individuals known to have an increased risk of developing the disease. In light of this recommendation, the aim of the study was to assess prevalence of celiac disease in Turner syndrome.Patients and methods: Serological screening of coeliac disease were performed in 85 children and adoles...

Background: Turner’s syndrome (TS) is the most common genetic disorder in females affecting approximately 1 in 2500 live female births as a result of partial or complete X chromosomal monosomy. TS mostly affect skeletal, cardiovascular, endocrine and reproductive systems. Girls with TS present with short stature and dysmorphic features such as webbed neck and delayed puberty. Age at diagnosis of children with TS is extremely important to start growth hormone at younger ag...

Introduction: Very little is known about the development of the immune system during puberty. Autoimmune diseases, like juvenile onset systemic lupus erythematosus (jSLE), have an unexplained female bias and a higher incidence after puberty. IFN alpha (IFNα) is a potent antiviral cytokine, and jSLE has a strong IFNα transcriptional signature. Toll like receptors 7 and 9 (TLR7/9) sense viral RNA and DNA respectively, and trigger plasmacytoid dendritic cells (pDC) to p...

Introduction: There are well described sex differences in the immune system. It has been shown in both innate and adaptive immunity that females have a more robust response than males. Various autoimmune diseases have a strong sex bias towards females. It is the accepted dogma that oestrogen in females relates to an increased risk of autoimmunity, but evidence to this end is scarce. Interferon alpha (IFNα) is a potent anti-viral innate cytokine, and many autoimmune diseas...

Background: Turner syndrome (TS), affects approximately 1/2500 live female births. The clinical features range from a severe phenotypic character to reduction of final height and premature ovarian failure.Objective and hypotheses: Processing of sensory information from visual, vestibular and somatokinesthetic systems is required to organize an adequate motor response aiming at gaze and posture stabilization according to the expected task and to the envir...

Background: Turner Syndrome (TS) is commonly complicated by otological problems, of which middle ear infections, conductive and sensorineural hearing losses are most frequent. Middle ear infection and hearing loss, isolated or in combination, have putative roles in balance disturbance and may be related to the increased fracture risk exhibited in TS in adulthood. Our aim was to both establish the prevalence of balance problems in TS during childhood and explor...

In the light of technologic advances in prenatal testing, more genetic information about the fetus will become available, some of which may have uncertain clinical significance. In the light of all new genetic diagnosing technologies, professional guidance of patients to reliable, tailored, and accurate information is essential. In this presentation I analyze and discuss the various aspects of parental attitudes and dilemmas, as well as professional opinions about the benefits...