ESPE Abstracts

Objectives: Short stature is the main characteristics for Turner syndrome (TS) patients, and growth hormone (GH) therapy has been used as an essential treatment for developing final adult height. However, there are only a few studies on the difference responsiveness to GH therapy according to the karyotype of Turner syndrome in Korea. The aim of this study was to analyze the effect of different types of TS karyotype abnormality on the response of GH therapy.</...

Background: Turner syndrome (TS) is characterised cytogenetically by X chromosome monosomy, the presence of an abnormal X chromosome, or mosaicism of a 45,X or have an abnormal sex chromosome rearrangement. Girls with variant TS show no features, fewer or milder features of TS.Objective and hypotheses: We are reporting on a clinical report of a girl with a rare variant of TS (46,X,i(X) (q10)).Method: This is a case report of a 12-y...

Prior to the clinical and commercial introduction of noninvasive prenatal testing (NIPT) by sequencing of maternal plasma cell-free DNA in 2011, most fetuses with Turner syndrome were detected by sonographic findings related to lymphedema or incidentally. NIPT, however, has transformed prenatal genetic screening, and an estimated 4–6 million tests have been performed worldwide. In the maternal plasma sample there is both maternal and placental cell-free DNA. Following a s...

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/objective and hypotheses: Not-brain-related birth body weight (NBBW) relevance to known relationships of birth gestational age (GA) with blood serum IGF binding protein 3 (IB3) was studied in the not-life threatened newborn (NWB).Method: SEX, GA (unit:complete week), postnatal age (PNA; unit:day), birth body weight (BW; unit:g), birth head circumference (HC; unit:cm), BW<10th centile for GA (SGA), caesarean section (CS), predominant oral/e...

Aim: Few data are currently available on the reliability of the different anthropometric, instrumental and biochemical indexes in recognizing the presence of the metabolic syndrome (MetS) in severe childhood obesity. The objective of our study was to find out a simple and accurate index to use in deciding whether to initiate a search for MetS in this at-risk population.Patients and Methods: A retrospective study based on...

Introduction: The DIAPH2 gene (Diaphanous homolog 2 Drosophila) is a Protein Coding gene found on the long arm of the X chromosome and is a member of the FH1/FH2 protein family. Members of this family affect cytokinesis and other actin-mediated morphogenetic processes required in early gonadal development.Case Description: An eight-year-old girl was referred with a chief complaint of short stature. She is a product of no...

Background: Turner syndrome (TS) arises from a complete or partial loss of one X chromosome (45,X) and is the most common genetic cause of primary ovarian insufficiency (POI) in women. Surprisingly little is understood about the pathogenesis of POI in TS beyond an acknowledged germ cell loss throughout the second trimester. Although X chromosome haploinsufficiency likely contributes, the variability in reproductive phenotype in 45,X TS suggests it is not the o...

Introduction: Body temperature determinants include head-brain thermal homeostatic mechanisms and, in the human newborn (NWB), birth gestational age (GA). Estimated birth brain weight (BRW) ratio to birth body weight (BW)(BBR) resulted associated with GA and blood serum Insulin-like Growth Factor (IGF)-II(IG2) ratio to blood serum IGF Binding Protein-3 (IB3)(IG2 through chronologically-corresponding IB3, IG2/IB3R) in our previous NWB observations. Here we evaluate BRW, BW, BBR...

Background/objective and hypotheses: Parenteral nutrition (KIVD) relevance to known birth gestational age (GA) relations to the blood serum IG2/blood serum IGF binding protein 3 (IB3) ratio (IG2 through chronologically corresponding IB3, IG2/IB3) was studied in the not-life-threatened newborn (NWB).Method: SEX, GA (unit, complete week), postnatal age (PNA; unit, day), birth body weight (BW; unit, g), birth head circumference (HC; unit, cm), GA≤36 (...