ESPE Abstracts

Background: Pseudohypoparathyroidism (PHP) is a rare condition with heterogeneous presentation. It is divided in various subgroups depending upon the manifestations. Type 1a Pseudohypoparathyroidism usually presents with brachydactyly, short stature along with other manifestations of Albright’s hereditary osteodystrophy (AHO) like obesity, mental retardation. The basic pathology is resistance to hormonal actions associated with G protein coupled receptors due defective GN...

Turner syndrome is associated with insulin resistance, increased incidence of type II diabetes, and hypertension, all of which are cardiovascular risk factors. The purpose of this study was to evaluate the lipid profile of Chinese girls with untreated Turner syndrome, (aged 2 to 15 years; 50.9% 45,XO) and age-matched, normal girls. A total of 108 girls with Turner syndrome and 99 normal girls had lipid profile measurements, including cholesterol, triglycerides,high-density lip...

Background: Short stature and gonadal dysgenesis are the two characteristic clinical features of Turner syndrome (TS), but multiple systems may be affected.Aims: To evaluate TS prevalence in girls presenting with short stature; and to establish a correlation between karyotype and associated features.Subjects and methods: Retrospective study of all patients diagnosed with TS (December 2007–March 2013).Res...

Background: Turner syndrome (TS) is due to complete or partial deletion of an X chromosome. The most common clinical features encountered in TS patients were short stature and primary amenorrhea.Objective and hypotheses: The purpose of this study was to investigate the causes of short stature in TS.Method: 86 patients with TS were diagnosed by karyotypes from 2004 to 2013, the karyotypes distribution were as follows: 64 patients wi...

Background: Turner syndrome (TS) is one of the most common genetic disorders associated with abnormalities of chromosome X that occurs in different populations with a frequency of 25–210 per 100 000 female live births.Objective and hypotheses:: The aim of this study was to investigate the prevalence of TS in ukrainian children, as well as frequency variations of karyotype and age of primary diagnosis of TS.Method: We analysed ...

Background: Turner syndrome is the most common sex chromosome disorder in females and occurs in about 1/2500 newborn girls worldwide. On chromosomal analysis, the various karyotypes observed are: 45,X (50%); 45,X/46,XX (20%); 46,X, i(Xq) (15%); 46,X, r(X) or 46,X, del(X) (10%); and others (5%).Objective and hypotheses: We present the case of a 17-year-old girl referred to our service for primary amenorrhea. Clinical examination: height=163 cm (62nd perce...

Background: Individuals born with a 45,X/46,XY karyotype can present with diverging phenotypes from normal male, Turner-like to ambiguous genitalia, the latter classically being called mixed gonadal dysgenesis. No correlation between phenotype and degree of mosaicisms in the karyotype could be ascertained so far, making clinical management of these patients difficult.Objective: To understand, if androgen action through the androgen receptor (AR) is compr...

Background: Girls with Turner Syndrome (TS) are at an increased risk of primary ovarian failure. Oestrogen replacement is commenced at around the age of 12 years, in girls who do not enter puberty spontaneously, with incremental changes to the dose over the next 3 years until adult replacement doses are achieved. We have previously shown good correlation between serum and urinary LH (uLH) and FSH (uFSH) in children being assessed for disorders of puberty.<...

Turner syndrome (TS) is characterized by partly or completely missing of an X chromosome and variability of clinical signs. We present tree Caucasian mosaic TS girls with unusual clinical course and discuss some literature.Case 1: A girl referred first to paediatric endocrinologist at the age of 8.5 y. for metabolic problems (an excessive weight gain, acanthosis nigricans, impaired glucose tolerance, hyperinsulinemia). The height was not a concern (Media...

Introduction: Turner syndrome (TS) is one of the most common chromosomic disorders characterized by partial or complete lack of one of X chromosomes. It presents variable phenotypic spectrum. Isochromosome of long arm (iXq10) is the third most frequent karyotype and could be in mosaicism in 10-15% of TS. The phenotypic manifestation are similar than girls 45X. It is described a higher incidence of thyroid autoimmunity (even though is currently under discussion) and of diabetes...