ESPE Abstracts

We have examined a male child patient aged about 15 years old to confirm the diagnosis of adrenal hypoplasia congenital (AHC) at the Genetics in-patient department, Children's Hospital Affiliated to Zhengzhou University.When the child was 5 years and 9 months,he was diagnosed as abmormal phenotypic characteristics who had skin hyperpigmentation, penis enlargement, rapid growth over the past 2 years, along with fatigue, drowsiness, and pubic hair appearing for 2 months.Base...

Objective: To determine the mutation in the SRY gene in a 46,XY complete gonadal dysgenesis patient with bilateral gonadoblastoma and coexisting dysgerminoma. Evaluate the functional consequence of mutated SRY gene in the tumor risk of 46,XY DSD.Methods and Materials: The proband was a 13-year-old girl who was admitted for examination due to undeveloped secondary sexual characteristics. She had no breas...

Objective: To summarize the clinical features and genetic characteristics of a patient with multiple endocrine neoplasia type 2B (MEN2B) and to review the literatures.Methods: We summarized clinical features, gene sequencing result, treatment and prognosis of a child suffered with MEN2B who was admitted to the Department of Pediatrics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine in February 2016. And...

Objective To study a large Chinese family with Type A Insulin Resistance Syndrome (TAIRS) and the members’ clinical phenotypes. Explore their genotype-phenotype relationship between environmental factors and hereditary features. Methods 19 members of the family were investigated for their past history, dietary habits and living habits. PCR and Sanger sequencing were applied to detect mutations of the INSR gene among 6 core members from the Pedigree. Besides, fasting blood...

Background and aims: A novel bioactive peptide, mitochondrial-derived peptide (MOTS-c), has recently attracted attention as a potential prevention or therapeutic option for obesity and type 2 diabetes mellitus (T2DM). MOTS-c profiles have not yet been reported in human obesity and T2DM. We aimed to determine circulating MOTS-c levels in obesity and explore the association between MOTS-c levels and various metabolic parameters. Methods: In this case-control study, 40 obese chil...

Objectives: Premature ovarian insufficiency (POI) is mostly considered X chromosome abnormalities in child. Few of POI cases are associated with autosomal abnormalities. This study was to identify new genes involved POI in three girls.Methods: Three girls who came to the hospital because of no menstruation were investigated. They were 14, 15, and 14 years old. They did not find any breast tissue in their physical examination. Clinical data, sex hormones,...

Congenital lipoid adrenal hyperplasia (CLAH) is the most severe and extremely rare form of congenital adrenal hyperplasia (CAH). The typical features include 46, XY disorder of sex development (DSD), early-onset adrenal crisis and enlarged adrenal with fatty accumulation. We reported a case of congenital lipoid adrenal hyperplasia (CLAH) caused by steroidogenic acute regulatory protein (STAR) gene mutation. The patient had typical early-onset adrenal crisis at the age of 2 mon...

Objectives: To summarize the clinical manifestations of a patient of 46,XY partial gonadal dysgenesis (PGD) accompanied by neuropathy. This is the first reported case of DHH mutation from China.Methods: We retrospectively reviewed the case and summarized the clinical history, physical examinations, laboratory and genetics tests, electromyography, ultrasound, surgical exploration and histopathology results.Results: The 14.3-year-old...

Background: Accumulated evidence indicates that the GH-IGF-1 pathway might be one of the crucial mechanisms of ISS. Insulin-like growth factor-1 receptor (IGF-1R) is the effector molecule that regulates the cascade reaction of hormone receptors in the GH–IGF-1 axis.Objective and hypotheses: To investigate the role of IGF-1R gene polymorphisms with regard to susceptibility to Idiopathic short stature risk in the Chinese population of Jiangxi area.</p...

Background: Survivors of childhood brain tumors (SCBT) are an emerging group that have premature mortality and morbidities that can negatively impact their quality of life and lifespan. Cardiovascular disease, obesity and diabetes are important causes of premature mortality in survivors, yet one of the major determinants of cardiometabolic risk i.e. visceral adiposity has not been determined in this group.Objective and hypotheses: This study is comparing...