ESPE Abstracts

Key words: growth hormone defificiency，growth hormone, height，bone ageObjective: To evaluate the height and bone age (BA) of prepubertal growth hormone deficiency (GHD) children in the first year after long-term growth hormone treatment.Methods: According to the degree of bone age lag before treatment，36 prepubertal GHD children were divided into two groups&#xF...

Background: MAS is a rare disorder, this syndrome is classically characterized by a triad of physical signs: cafe-au-lait skin pigmentation(SP), fibrous bone dysplasia(FD), peripheral precocious puberty(PPP). In children, the most frequent initial presentation of MAS is PPP. MAS is caused by postzygotic activating mutations at the R201 codon of the GNAS gene, leading to a state of somatic mosaicium. In MAS patients, the frequency of mutations is expected to be...

Case: A 7-year-old female revealed short bowed femurs and humeri with old fractures and bowed tibias and fibulas. Her height was 97cm and weight was 11kg. Her younger sister had the same phenotype as same as her mother. The Trio WES test showed that they all inherited from their mother's COL1A2 gene mutation (c.928G>A; p.G328S) and diagnosed Osteogenesis Imperfecta, type IV. Unfortunately, the 7-year-old girl also presents coarse face, short neck, limi...

Objectives: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder in infancy. The aim of this study was to screen for reported gene mutations among CH patients in our hospital and to illustrate a genetic mutation spectrum of CH in China.Methods: We designed a gene panel consisting of more than 20 relevant genes including TSHR and DUOX2. Blood samples were collected from 60 CH patients and their parents in Children’s Hospital ...

Background: Prader–Willi syndrome (PWS) is a genomic imprinting disorder due to loss of paternally expressed genes in the 15q11–q13 region and characterized by hypotonia, a poor suck, hypogonadism, GH deficiency(GHD), learning and behavioural problems. GH acts as a ligand for the GH receptor (GHR) coded by a gene polymorphism for an exon-s deletion (d3) seen in about 50% of Caucasians and associated with an increased response to GH (GH) therapy.<p class="abstext"...

Background: Hypotonia–Cystinuria syndrome (HCS), characterized by hypotonia at birth, poor feeding and growth retardation is an autosomal recessive disorder caused by homozygous microdeletions of PREPL and SCL3A genes. Increase in the urinary amino acids including cystine, lysine, arginine, and ornithine is the main laboratory finding.Objective and hypotheses: HCS was described in 17 patients so far and previous reports with favorable responses to G...

Background: Prader–Willi syndrome (PWS) is a rare genetic disorder associated with hyperphagia, and excessive weight gain. Patients with PWS are at elevated risk of developing morbid obesity and associated life-threatening complications. Although gut microbiota has been suggested to play a role in disease phenotypes, little is known about its composition and how it relates to hyperphagia.Objective: The aim of this ...

Introduction: Rabson-Mendenhall Syndrome (RMS) is an autosomal recessive, extremely rare, serious insulin resistance syndrome that occurs as a result of mutation in the insulin receptor (INSR) gene. Pathogenic variants in the INSR gene cause a broad spectrum of inherited insulin resistance syndromes. Here, a male case who presented with the complaint of diffuse acanthosis nigricans and was diagnosed with RMS is shared. Case Repor...

Aim: This study aimed to compare the levels of appetite-regulating hormones (ghrelin, leptin, peptide-YY (PYY), neuropeptide-Y (NPY)) in girls with idiopathic central precocious puberty (ICPP) before treatment with prepubertal girls, and to evaluate changes in these hormone levels and body composition during leuprolide acetate (LA) treatment.Methods: This prospective, cross-sectional study included girls with ICPP, isola...

Introduction:Premature adrenarche (PA) is the most common cause of premature pubic and axillary hair growth before the age of 8 in girls. At the time of diagnosis, the height and bone age of the cases with premature adrenarche were determined to be higher than their peers. The long-term effects of advanced bone age on the final length of the cases are controversial. In this study, it is aimed to share the long-term follow-up data of the cases diagnosed with pr...