ESPE Abstracts

Thyrotoxicosis refers to a hypermetabolic state that results in excessive amounts of circulating thyroid hormone. Pediatric patients retain significant thymic tissue that regresses only later in life. This thymic tissue can develop significant hyperplasia during an acute autoimmune process. We describe a case of a 14-year-old girl who presented with dysphonia secondary to severe Graves' disease and a 1-month history of goiter, anxiety, restlessness, and tremor. A 99 mTc t...

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...

Background: Congenital hypothyroidism (CH) is one of most common endocrine disease in childhood. If unteated, it is one of the leading causes of childhood intellectual disability. CH can be permanent, or can be transient in which thyroid function is spontaneously recovered. It is also known that among children with congenital hypothyroidism, the proportion of transient cases is higher in preterm than in full term babies. But there are few, if any, large studies which evaluated...

Background: Congenital adrenal hyperplasia (CAH) is a disease inherited by autosomal recessive manner and one of the most common congenital metabolic disorders. The incidence of CAH has been reported mainly through neonatal screening tests, mostly for 21-OHD. It is reported that 21-OHD occurs one in 15,000 people per year. However, there are few studies on all types of CAH incidence including 21-OHD. CAH is a rare disease, studies on large populations are needed to identify a ...

Introduction: Thyroid hormone is known as greatly influence on growth and development in fetuses and newborns. If the detection of the disease is delayed, hypothyroidism can cause irreversible damage, so early detection and treatment is very important. Hypothyroidism can be divided into permanent and temporary cases depending on the duration of treatment, but there is no predictor that can completely differentiate those two. However, as genes related to hypoth...

Background: GnRHa (gonadotropin releasing hormone analogue) inhibits growth spurt during treatment of precocious puberty. So they have limitation of final height gain.Objective and hypotheses: It is need to study about what factor associated with growth decrement and ideal suppression level of sex steroid during GnRHa treatment.Method: Female Sprague–Dawley rats of 3 weeks of age (Total 15) were divided into three groups; (1) ...

Background: GnRH analogues are the treatment of choice for central precocious puberty. It has been proven beneficial effects on final adult height, but the reproductive function has many debate especially about PCOS. The criteria used for the diagnosis of PCOS can be more difficult to judge because it is not uniform between the studies.Method: The Medline, Cochrane, EMBASE, Web of Science, SCOPUS data bases were searched for studies published up to Janua...

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by mutation in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a crucial role in male sexual differentiation and development. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male shows some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, par...

Objectives: Monogenic diabetes and congenital hyperinsulinism (CHI) and are common disorders of glucose-regulated insulin secretion in childhood, with 13 causative genes known for MODY and 10 causative genes identified for CHI. Genetic testing for monogenic diabetes and CHI is important for patient care. We aimed to delineate genetic and clinical manifestations of monogenic diabetes and CHI diagnosed by targeted-exome sequencing (TES).Methods: Nine proba...

Background: Achondroplasia is the most common condition characterized by disproportionate short stature. Patients with achondroplasia progressively fall below normal standards for length and height. GH has been widely used to treat short stature with or without GH deficiency (GHD).Objective and hypotheses: The purpose of the present study was to clarify the effectiveness of GH therapy on short stature in achondroplasia.Method: The ...