Endocrine Abstracts

Background: Turner syndrome (TS) is a rare genetic developmental disorder characterized by gonadal dysfunction, short stature and heart defects, among others. Women with TS often suffer from severe fatigue, for which they are typically referred to endocrinologists. The diagnostic work-up is generally time-consuming and invasive, but it rarely solves the problem. To prevent the personal and financial burden of unnecessary diagnostic procedures, it is crucial to understand fatig...

Objective: Growth hormone (GH) and sex hormone replacement therapy (SHRT) are standard treatment for patients with Turner syndrome (TS) that enhances bone mineral density (BMD), puberty, and quality of life. We aimed to evaluate the efficacy of SHRT and GH on BMD in TS patients.Methods: Cross-sectional study was performed in LUHS Kauno Klinikos in 2014–2018. 27 females with TS were enrolled. BMD and Z score...

Introduction: Turner syndrome (TS) is characterized by the complete or partial loss of one X chromosome and associated with a wide range of clinical manifestations. The clinical appearance depends on the specific karyotype, which may include different mosaic forms. Main features of almost all the karyotypes are short stature and delayed or absent puberty. Adult women in particular are at high risk of developing cardiac complications, metabolic syndrome, increased liver enzyme ...

Gonadotropin levels in all Turner syndrome (TS) patients present a diphasic pattern: highest in early childhood, declining at 6–10 years of age, and then increasing again. Here, we have investigated whether karyotype or FSH&LH can be used as indicators of spontaneous puberty in TS. From a consecutive group of 139 TS girls treated at one clinical center (1996–2015) the clinical & biochemical data were finally analyzed in 110 TS patients (1268 visits). The stud...

Turner syndrome (TS), resulting from complete or partial loss of X chromosome, occurs in 1 per 2000-2500 liveborn female neonates. Most patients with TS, especially those untreated with growth hormone, present with osteoporosis or osteopenia, and are at increased risk of bone fractures. Available evidence suggests that depletion of bone mass may be associated with inadequate level of physical activity, and consequently, with too low muscle mass and strength. The aim of the stu...

Introduction: Women with Turner syndrome (TS) are known to be at risk of decreased BMD (dBMD). Sex hormone replacement therapy is crucial to ensure the proper BMD formation, although the dBMD remains a problem in TS.Aim: To investigate the prevalence of decreased bone mineralization and it’s association with hormone levels in TS.Subjects: Women with geneticaly confirmed TS aged ≥ 18 year.Methods: T...

Objective: To assess prevalence, clinical features, and follow-up of renal/urological malformations in patients with Turner syndrome (TS).Methods: The medical records of 182 patients with TS born between 1970 and 2013 were retrospectively reviewed.Results: Twenty-one girls (11.5%) were identified with renal/urological anomalies: 15 (71%) horseshoe kidney (HSK), 1 (4.7%) malrotation, 2 (9.5%) single kidney, and 1 (4.7%) duplex colle...

Background: Recent consensus recommends assessment of aortic dimensions with aortic sized index (ASI) normalized for body surface area (BSA) defined as absolute aortic dimension/BSA, in girls with Turner syndrome (TS) as young as 10 years. There are currently multiple formulae for estimating BSA without agreement on a preferred method. We assess the clinical validity of each formulae as this may have implications on interpretation of ASI.Method: We calcu...

Aim: To compare final height and late metabolic outcomes depending on oestrogen replacement initiation in Turner syndrome (TS).Subjects: Women with TS ≥18 years retrospectively treated with GH and oestrogen.Methods: Records of 117 women with TS from database of Hospital of Lithuanian University of Health Sciences were analysed. 71 did not matched the inclusion criteria; 46 patients were enrolled and divided into two groups: e...

Goal: Identification of latent mosaicism and determination of a parental origin of an X chromosome in TS patients in Uzbek population.Methods: Molecular genetic studies are carried out in 35 patients with TS (26 with monosomy and nine with mosaicism) at the age of 7–16 and their parents with a set of DIATOMTMDNA prep 200 reagents. DNA amplification was performed in Applied Biosystems thermocyclers. PCR products were subjected to electrophoresis on 1...