ESPE Abstracts

Aldosterone synthase deficiency (ASD) is a rare autosomal recessive disease caused by inactivating mutation in the CYP11B2 gene, usually presenting with severe salt-wasting in infancy or stress-induced hyperkalaemia and postural hypotension in adulthood. ASD is unable to be detected by Neonatal screening of 17-hydroxyprogesterone, hence patients would not be diagnosed until they suffer from salt-wasting crisis. Due to this potentially life-threatening risk, early detection and...

Background: Congenital hyperinsulinism (CHI) is the most important causes of persistent hypoglycemia in infants during the first few days after birth.Objective and hypotheses: We report an 11-day-old female infant admitted with persistent hypoglycemia since 11 h after born.Method: Multiple tests and imageological examinations were used to detect the cause of hypoglycemia. A whole-body PET CT-scan with [⊃F]-L-di...

Background: Congenital adrenal hyperplasia (CAH) arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. Currently employed chorionic villus sampling and amniocentesis provide genetic results at ~14 weeks of gestation at the earliest. At this time, the genitalia of the affected female foetuses have already become virilized. To prevent genital ambiguity, prenatal treatment with dexamethasone must begin on or before gestational ...

Backgrounds: Maturity-onset diabetes of the young (MODY) is a cluster of early-onset, monogenic disorders which is inherited in autosomal dominant form. It is mainly caused by genetic defects in beta-cell, which results in beta-cell dysfunction. Till now, 14 MODY types specified by mutation in respective 14 genes with their etiologies are known. Among them, glucokinase (GCK) gene encodes glucokinase enzyme which plays a crucial role in the regulation of insuli...

Background: Exposure to per- and polyfluoroalkyl substances (PFASs) may interfere with thyroid function in the general population and disturb the timing of puberty onset.Objectives: We investigated the possible relationship between PFASs and thyroid hormone (THs) exposure in girls with central precocious puberty (CPP).Methods: In a prospective study initially established for assess...

Introduction: Congenital hypothyroidism (CH) is diagnosed with neonatal screening and treated early in the neonatal period. Among these patients, transient congenital hypothyroidism (TCH) is included and requires re-evaluation. In this study, we aimed to identify factors that would allow discrimination between permanent and transient hypothyroidism in patients with eutopic thyroid gland.Methods: We retrospectively analyz...

Objective: To highlight conversion of hypothyroidism to hyperthyroidism by case reported and literatures reviewed.Methods: Case report and literature review.Results: Two children diagnosed as Hashimoto’s thyroiditis with hypothyroidism and treated with levothyrocine primary. During the following, hyperthyroidism was noted even the stop the administration of levothyrocine. thyroid receptor antibody (TRAb) was positive during th...

Introduction: To investigate the protective effects of combined intervention with adenovirus vector mediated interleukin 10 (IL-10) and insulin-like growth factor 1 (IGF1) genes on islet β cells in nonobese diabetes (NOD) mice with type 1 diabetes mellitus (T1D) at early stage.Methods: Twenty-four female NOD mice at onset of diabetes and aged 17–20 weeks old were randomly divided into four groups. Mouse 1, 2 and 3 groups were intraperitoneally ...

Background: To evaluate potential function of visfatin in SW872 adipocytes under the conditions which produce insulin resistance by free fatty acids (FFAs). Then to explore the mechanism of visfatin on the level of signal molecules.Objective and hypotheses: To evaluate the effects of visfatin on the mRNA expressions of the insulin signal molecules including insulin receptor substrate 1 (IRS1), IRS2, and phosphatidylinositol 3 kinase (PI3K) on the states ...

Context: Data and studies based on exome sequencing for the genetic evaluation of short stature are limited, and more large-scale studies are warranted. Some factors increase the likelihood of a monogenic cause of short stature, including severe short stature (<–3 standard deviation scores) and small for gestational age (SGA) without catch-up growth. However, whether these factors can serve as predictors of molecular diagnosis remains unknown.<p c...