ESPE Abstracts

Background: Steroid 5-α reductase type 2 (SRD5A2) deficiency is an rare inherited disorder resulting from mutations in the SRD5A2 gene, causing 46,XY DSD (Disorder of Sex Development). The mutated SRD5A2 enzyme can no longer convert testosterone to dihydrotestosterone, which is needed for virilisation of external genitalia.Objective and hypotheses: To describe the phenotype, investigations and management of SRD5A2 deficiency.<p class="a...

Objective: The aim of this study was to detect potential gene mutation of Noonan Syndrome in a Chinese family.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. The PTPN11, KRAS, SOS1, RAF1, NRAS, BRAF, RIT1, SOS2, LZTR1, SHOC2, CBL, NF1 gene was sequenced to identify the pathogenic mutation responsible for the development of Noonan Syndrome by P...

Objective: The aim of this study was to detect potential gene mutation of idiopathic hypogonadotropic hypogonadism Syndrome (IHH) in a Chinese family.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. A Disorder of Sexual Development (DSD) gene panel was applied to identify the pathogenic mutation responsible for the DSD and verified by Sanger.</...

Background: Primary congenital hypothyroidism can be classified into thyroid dysgenesis and thyroid dyshormonogenesis. Thyroid dysgenesis includes aplasia, hypoplasia, and ectopia. About one-third of ectopic thyroid is presented with congenital hypothyroidism, but sometimes it may be difficult to diagnose ectopic thyroid in infancy. Thyroid ultrasonography or scintigraphy can be used to diagnose thyroid dysgenesis, but sometimes it is hard to diagnose correctly by using one of...

Background: Simple obese is a worldwide public health problem. Recent studies suggested a possible relationship between obese and vitamin D deficiency.Objective and hypotheses: To discuss the relationship between 25-Hdroxyvitamin D with glucose and lipid metabolism of simple obese in Chinese children.Method: 65 children with obeses (35 mild-to-moderate, 50 severe) and sixty-two children with normal weight were enrolled in this tria...

Objective: To explore the correlation of sex hormone-binding globulin (SHBG) and Total Testosterone (TT) with the development of Metabolic syndrome (MetS) in obese boys. To explore the relationship between components of MetS and TT levels in boys.Methods: A total of 439 boys aged 6-18 years old from April 2020 to February 2023, include boys who visited the Department of Endocrinology, Genetics and Metabolism in Jiangxi P...

Objective: To investigate the role of serum anti-mullerian hormone (AMH) and inhibin-B (INHB) in central precocious puberty precocious puberty (CPP) and early and fast puberty(EFP).Methods:90 girls with CPP, EFP and premature thelarche (PT) were enrolled in our hospital from January 2021 to December 2022, and 45 girls without healthy development were enrolled. General data, sex hormones, AMH, INHB levels and gonad ultras...

Purpose: Congenital hypothyroidism (CH) is a state in which thyroid hormones are insufficient at birth. This condition may last for a lifetime or may be transient. Due to the universal newborn screening test, almost all newborns are being screened for thyroid function in Korea. The study was aimed to see the predictors of transient congenital hypothyroidism with long-term follow-up of more than 3 years of CH in a single tertiary center.<...

Objectives: Estrogen is a key hormone to promote epiphyseal closure. So the inhibition of estrogen production can prolong the growth time of adolescent children. Therefore, aromatase inhibitors can be applied to adolescent children who has older bone age. In addition to reduction of the estrogen levels, it can promote linear growth. This study analyzed the safety and efficacy of letrozole in children for clinical reference.Method...

Background: In this study we anaysed the epidemiology, clinical characteristics, immunological and metabolic factors in children with type 1 diabetes (T1DM).Methods: From January 2009 to January 2023, children with T1DM. were enrolled in this study. 79 healthy children were recruited as the control group.Results: A total of 357 children with T1DM were included, including 177 males ...