ESPE Abstracts

An association between Turner syndrome (TS) and Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency is rare. TS is caused by partial or complete loss of the second sexual chromosome which leads to genital system malformation and infertility. 21-hydroxylase deficiency is a well-known cause of disorder of sexual development in genotypic female neonates.The aim of our study is to report this patient and stress this rare possibility. A 8-month-old patient sufferi...

Background: MODY includes a very heterogenous group of monogenic diabetes mellitus characterized by beta-islet cell dysfuction. We previously reported 3 new gene mutations of PTPRD, SYT9 and WFS1 in Korean MODY children (Horm Res Paediatr,2015). We investigated whether the PTPRD, SYT9 and WFS1 mutation overexpression vectors affect insulin synthesis and secretion in human pancreatic beta cells.Materials & Methods: We...

Background: Recently, the puberty is becoming to start earlier. This early beginning of the puberty is multifactorially related to genes, hormones and environmental factors. It has been already known in many animal experiments that endocrine disrupting chemicals (ECDs) are deeply envolved in regulation of endocrine systems. However, clinical studies in humans are limited. Recently, the toy of 'Slim' which thought to contain ECDs such as phthalates is v...

Bacground and objective: Idiopathic infantile hypercalcemia is one of rare diseases characterizing hypercalcemia in infancy. Renal phosphate absorption in proximal tubules plays a very important role in the phosphate and calcium homeostasis. SLC34A1 is known a key regulator of renal phosphate reabsorption. SLC34A1 gene mutation is one of very uncommon causes of idiopathic infantile hypercalcemia. We have experienced a case of idiopathic infantile hypercalcemia caused by a homo...

Background & objective: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that is characterized by an early onset, autosomal dominant mode of inheritance and a primary defect in pancreatic β-cell function. MODY has been identified in Asian populations, however, there is a big discrepancy in the genetic locus between Asian and Caucasian patients with MODY. We previously reported that mutations in PTPRD, SYT9 and WFS1 have been identified in Ko...

Background and objective: The peak GH value plays a crucial role in the diagnosis of idiopathic growth hormone deficiency (iGHD). However, the prediction of peak GH in iGHD diagnosis is known to be limited. The purpose of this study was to evaluate the clinical and diagnostic usefulness of the total sum of GH values obtained from the GH stimulation test.Materials and methods: We retrospectively reviewed 178 prepubertal children who were diagnosed with iG...

Background & objective: The occurrence of CPP seems to be increasing in our clinical practice thesedays. It is known that CPP causes socio-psychological disturbances relating to early pubertal changes and finally leads to a significant decrease in the final adult height because of premature closure of the growth plate. This study was conducted to see major factors affecting to the bone maturation, which is closely related to the final adult height in girls with CPP.<p ...

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: Cushing disease defined as hypercortisolism due to pituitary adrenocorticotrophic hormone (ACTH) secreting adenoma is a very rare disease, especially in childhood and adolescence. The purpose of this report is to follow up Cushing disease patient who presented with osteoporosis, rapid weight gain, decreased growth rate, and relapsing pituitary adenoma after transsphenoidal adenomectomy (TSA).Case: A 17-years-old boy visited our hospital for e...