Endocrine Abstracts

The cardiac problems encountered in girls and women with Turner’s syndrome include: congenital anomalies such as biscuspid aortic valve (30%) which is a risk factor for aortic stenosis and for future aortic rupture, coarctation of the aorta (12%), persistent left superior vena cava (13%) and partial anomalous pulmonary venous return (13%); a tendency towards hypertension (seen in 25% of adolescents) which appears essential in nature and which is not correlated with altera...

Turner syndrome (TS) is associated with more frequent ophthalmic morbidity.The goal: To investigate the prevalence and severity of ophthalmic problems in patients with TS diagnosis established on a detailed karyotype analysis.Patients and method: 73 girls with TS aged 2–30 (mean 14.34±6.39) were involved in the study. 45,X monosomy was found in 57.8% of them, different mosaic pattern in 33.8% and structural aberration in ...

Introduction: Turner Syndrome (TS) is associated with cardiovascular anomalies and account for a threefold higher mortality in these women. The most common findings are congenital malformations of the heart (CMH), aortic dissection, valvular heart disease (VHD), hypertension and ischemic heart disease. It has been suggested that the ocurrence of cardiovascular disease in TS women is related to their karyotype and possibly to growth hormone (GH) treatment. Our study aimed to as...

Introduction: Turner syndrome (TS) is a feminine chromosomic disease, defined as the partial or total loss of the X chromosome. Classic phenotype includes growth and pubertal retardation as well as a characteristic dysmorphic syndrome. Other accompanying comorbidities are frequently associated with TS such as metabolic diseases: overweight, diabetes, hypertension (HTA) and dyslipidemia. Through this report we aim to determine the frequency of metabolic diseases associated with...

IntroductionTurner syndrome is one of the most common chromosomal disorders, with a reported prevalence of 1/2500 live females. It is characterized by short stature, ovarian failure, malformative, autoimmune, skeletal and bone abnormalities. The objective of our work is to study the prevalence of skeletal and bone malformations in our Turnerian patients.Material and methodThis is a retrospective descriptive s...

Poland syndrome (PS) is a defect consisting in unilateral deficiency of the pectoralis major muscle and anomaly of the ipsilateral upper limb, usually in the form of syndactyly or synbrachydactyly. The absence of a nipple and the aplasia of a mammary gland are frequently found. The incidence of PS ranges from 1:7000 to 1:100 000.The authors present a 5-year-old girl with a very rare coincidence of PS and Turner syndrome. The child was born after 38 weeks...

Introduction: Turner syndrome (TS) is a genetic disease, attributable to the total or partial loss of an X chromosome. The classic phenotype encompasses short stature, hypergonadotropic hypogonadism and dysmorphic features. It’s also associated with other conditions such as autoimmune (AI) diseases. Aim: Herein we aim to determine the frequency of AI diseases in TS and to identify the genetic variants of TS mostly associated with this latter conditi...

IntroductionTurner syndrome is a chromosomal abnormality linked to the total or partial absence of the X chromosome. Its prevalence is 1/2500 female newborns. It constantly associates a stature delay and ovarian failure, with an increased risk of various malformations. The objectives of this study are to show the importance of the cytogenetic study in the management of patients with delayed height and / or primary amenorrhea, and to search for a possible...

Introduction: Turner syndrome (TS) is one of the most common chromosomal abnormalities, characterized by systemic involvement and susceptibility to some disorders that begin or progress in adult life. These lead to an increase in morbidity and mortality and a decrease in quality of life. The aim of this study was to analyse the profile of women with TS, who are currently followed in endocrinology, regarding: karyotype, age, final height and weight, puberty and fertility, and m...

Introduction: Double aneuploidy involving both sex and autosomal chromosomes (chr) is very rare, Down–Turner syndrome being the most frequent. Fourty-seven cases of Down–Turner mosaicism have been reported, only nine with a karyotype containing Y chr (phenotype: seven male, two ambiguous genitals).Case report: We describe a girl affected with Down-Turner syndrome. The cytogenetic analysis on peripheral lymphocytes, performed 2 months after birt...