ESPE Abstracts

Kallmann syndrome (KS) is a rare heterogeneous disease with hypogonadotropic hypogonadism and anosmia or hyposmia. The aim of this study is to highlight the clinical features and diagnosis of this rare event by reporting a 13-year-old Chinese boy with a novel mutation of CHD7. He presented because of short stature (−2.0 SD) for 11 years. He was born at term with a birth weight of 2.95 kg. Cryptorchidism operation was undertaken at 5 years old. He suffered from a...

Objective: Studies on 5α-reductase type 2 deficiency (5α-RD) are limited and the genotype-phenotype correlation has not been elucidated. The aim of the study was to analyze clinical and molecular characteristics, genotype-phenotype correlation in a large Chinese 5α-RD cohort.Design: Database registration study.Method: We analyzed clinical and genetic data of gene con...

Study of response to vitamin D replacemet in North Korean refugee children and Korean childrenMyung Hee Chung, MD., Ph.DDaegu Medical Center, Daegu Metropolitan city, KoreaJung Hup Song, MD., Ph.DKyungpook National university hosptal,Occupational Medicine, Public Health Dept.,Daegu, KoreaPurpose: It is well known that obesity and ...

Background and Purpose: Nutritional obesity is a significant health issue worldwide, and severe obesity can lead to obesity hypoventilation syndrome (OHS). However, previous studies have mainly focused on changes of mechanical respiratory function without in-depth study on damage of lung epithelial cells. This study investigates the molecular mechanism underlying obese hypoventilation.Methods: C57BL/6 mice were used to c...

Background: Thalassaemia patients are at risk of developing diabetes mellitus (DM) and pre-diabetes status predominantly due to iron overloading. The prevalence is 20–30% in adult patients. Age, serum ferritin, T2* magnetic resonance imaging (MRI) of the heart and pancreas volume has been found to be associated with DM. However, majority of the studies involved more adults than children.Objective and hypotheses: To establish the prevalence of glucos...

Objective: To explore the genetic basis for a Chinese three-generations pedigree affected with Severe Short Stature with a mild form of Geleophysic Dysplasia Type 2（GD2）Methods: We collected 11 related family members from a Chinese 3-generation pedigree with severe short stature with a mild form of Geleophysic Dysplasia Type 2 GD2. Clinical data of the 11 family members was collected．With genomic DNA...

Objective: To study the clinical characteristics of 46XX male syndrome case with negative SRYMethods: To summarize the characteristics of one case of SRY negative 46XX male syndromeResults: a 12-year-old boy came to our clinic for "breast development for one year". At the age of 1 year old, karyotype was done with the result of 46XX for hypospadias (penile-scrotal type). At...

Objective: To recognize Schimke immune-osseous dysplasia from a case of spinal epiphyseal dysplasia.Method: Summarize the characteristics of one case of Schimke immune-ossesous dysplasia, and increase awareness of this disease.Result: The patient, male, with non-consanguineous parents, was born on May 8, 2012. He was hospitalized in our hospital in January 2020 due to his short stature for more tha...

Objective: To explore the clinical manifestations and early identification of sitosterolemia.Methods: To summarize the clinical characteristics of the case and review literatures of sitosterolemia.Result: The child was an 11-year-old boy. The main complaint was that subcutaneous yellow nodules were found more than 1 years with blood cholesterol increased for 4 months. Two months ago, the patient ca...

Objective: To explore the status and the main influencing factors of peripheral nerve conduction dysfunction in Chinese children and adolescents with type 1 diabetes mellitus (T1DM).Methods: Nerve electrophysiological indicators including amplitude, latency and conduction velocity of median nerve, ulnar nerve, superficial peroneal nerve, sural nerve, common peroneal nerve and tibial nerve were collected, and the results ...