ESPE Abstracts

Purpose: Adrenal neoplasms (ANs) are rare endocrine neoplasms in children, and etiopathogenesis and prognosis of pediatric ANs remain obscure. This study investigated clinical features, histopathological features, genetic etiologies and prognosis of ANs.Methods: This study included 33 ANs patients diagnosed from March 1997 to April 2021. Clinical features and endocrine findings were collected by retrospective medical cha...

Objectives: Hypophosphatasia (HP) is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without a mineralized bone to early loss of teeth without bone symptoms. We aimed to report a patient with HP presenting with fibrous dysplasia.Methods:</st...

Objectives: Obesity is a well-known risk factor for central precocious puberty (CPP). Recently, elevated thyroid stimulating hormone (TSH) were reported in obese youth. However, few data regarding the relationship between CPP and TSH are available. The aim of this study was to evaluate thyroid function in CPP girls and the relationship between CPP and serum TSH concentration.Methods: This is a retrospective cross-sectional study. A total 1,247 girls aged...

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...

Background: Nutrition is an important factor to regulate reproductive function. Some studies showed that high fat diet (HFD) may influence to puberty onset and irregular estrous cycles in the female rats. However, underlying regulation mechanism of nutrition on pubertal maturation and reproductive function is not well-known. Kisspeptin and neurokinin B (NKB) are an essential factor for regulation of pubertal development.Objective and hypotheses: In this ...

Background: Obesity in children and adolescents has become an increasing clinical and public health concern. It was reported that obesity is positively associated with sexual maturation in both boys and girls in China. However, the effect of obesity on pubertal development is incompletely elucidated.Objective and hypotheses: To evaluate the fat mass and body composition by dual-energy x-ray absorptiometry (DEXA) in Chinese precocious puberty girls, and t...

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...