ESPE Abstracts

Background: A patient with both Prader-Willi syndrome and mosaic Turner syndrome is extremely rare. We performed fMRI and euglycaemic-hyperinsulinaemic clamp test for her.Case presentation: A 17-yr-old girl was diagnosed as Prader-Willi syndrome by her clinical investigations including poor feeding in infancy, hyperphagia, developmental delay, mental disorders, behavior problems, thin upper lip, almond-shaped eyes, acromicria and genital hypoplasia. Mate...

Prader–Willi Syndrome (PWS [MIM 176270]) is a rare neurogenetic disorder mapping to the chromosome 15q11-q13 domain, which results from the genetic and epigenetic function deficiency of genomic imprinting of paternal alleles. It is characterized by neonatal hypotonia with following childhood obesity, hyperphagia, developmental delay and short stature, hypogonadism, cognitive impairment, and behavioral problems. PWS is generally sporadic that occurs in about 1 in 10 000 to...

Objective: Prader-Willi syndrome (PWS) is a rare genetic imprinting disorder resulting from the expression loss of genes on the paternally inherited chromosome 15q11-13. Early-onset life-thriving obesity represents the PWS clinical hallmarks. The noncoding RNA gene SNORD116 within the minimal PWS genetic lesion plays a critical role in the pathogenesis of the syndrome. Despite advancements in understanding the genetic basis for PWS, the pathophysiology of obes...

Objective: Dyslipidemia is a disease characterized by a genetic or multifactorial disorder of lipid and/or lipoprotein metabolism. Childhood dyslipidemia is a rare genetic metabolic disease that can cause serious cardiovascular disease and seriously endanger children's health.Methods: We retrospectively analyzed the clinical data of 10 patients with dyslipidemia who were admitted to the Department of Endocrinology, C...

Gynecologic anomalies, including uterine agenesis and ovarian dysgenesis, are reported in clinical practice of reproductive endocrinology. They are some of several differential diagnoses in adolescent females with primary amenorrhea and delayed puberty. Primary ovarian insufficiency can be determined by conducting sex hormone tests to evaluate the hypothalamic-pituitary-ovarian axis, but accurate confirmation of Mullerian agenesis can be extremely challenging by image modaliti...

Background: Rathke’s cleft cysts (RCC) are benign, epithelial lined cystic remnants of the craniopharyngeal duct, and are a common radiological differential for lesions involving the sellar and sellar/suprasellar region. RCC are not very common in children.Objective and hypotheses: To investigate the clinical characteristics of RCC in children.Method: A retrospective analysis was conducted in 24 patients with RCCs diagnosed be...

Objective: Excessive exposure to glucocorticoids (GCs) during gestation period not only causes fetal growth retardation but also increases the risk of adult metabolic diseases. 11 Beta-hydroxysteroid dehydrogenase (11β-HSD2) is a kind of glucocorticoid metabolic enzymes, which plays a role to the placental GCs barrier during gestation period. The aim of this study is to investigate the effect and mechanism of sonic hedgehog (Shh) signalling on regulation the expression of...

Background: To explore the reason of children on the 46,XY DSD.Objective and hypotheses: To analyze the clinical characteristics, diagnosis and management of a case with steroid 5α-reductase type 2 deficiency (SRD5A2) and perform related gene mutation analysis with a view to raising awareness of this disease.Method: A 2 year old 5 months child came with abnomal vulval shape. Karyotype was analyzed by chromosome cultivation. Gn...

Keywords: Prader-Willi syndrome; Gut microbiota; Insulin sensitivity; Metagenomics sequencing; Obesity.Aim: Obesity is the main driving factor for comorbidities in Prader-Willi syndrome (PWS) patients due to overeating behaviors. The gut microbiota has been implicated in the aetiology of obesity and associated comorbidities. The purpose of the present study is to characterize the fecal microbiota in Chinese patients with...

Background: Psychosocial factors and health events are important for patients with chronic diseases such type 1 diabetes (TD1).Objective and hypotheses: The aim was to explore the psychosocial factors, health events and comorbidity found at diagnosis and during the follow up of children and adolescents with type 1 diabetes. Also to analyze the association between socioeconomic status and glycaemic control.Method: Medical charts of ...