ESPE Abstracts

Background: Melnick-Needles syndrome (MNS), a rare genetic disorder characterized by skeletal and craniofacial abnormalities. It is caused by mutation of the gene FLNA, which results in disrupted production of filamin A and affects skeletal development. Short stature can be one of the clinical features of MNS.Case presentation: An 8-year-old girl who underwent multiple surgeries for gait disturbance was referred to the d...

Neonatal thyrotoxicosis is rare and most of the cases are secondary to maternal Graves’ disease. It is usually transient, but can be associated with significant morbidity and mortality if not recognized promptly and treated adequately. We report a case of a 20-day-old female infant who developed thyrotoxicosis with irritability, tachycardia, and relatively poor weight gain. She was born to a mother who took levothyroxine during pregnancy after undergoing a thyroidectomy ...

Introduction: The prevalence of renal anomalies in Turner syndrome (TS) has been reported to vary from 30 to 70%. However, the influence of renal anomalies on renal function and morbidity have been less well investigated. We evaluate the status of renal function and the presence of urinary abnormalities in early adult TS patients.Patients and method: Sixty-three girls with TS, who are attending Pediatric Endocrine Clinics in Busan Paik Hospital, were stu...

Turner syndrome(TS) is a chromosomal disorder which occurs in 1/2500 - 1/3000 among female live births, characterized by short stature, pubertal failure and cardiac defects. Mosaicism of 45X/47XXX is extremely rare and accounts for 1.7% of the TS cases. TS with 45X/47XXX is more likely to have spontaneous puberty. The case we present herein is a 13-years old girl who was admitted to Chuncheon sacred heart hospital due to severe anemia. She was diagnosed with Turner syndrom...

Background/aim: Anti – Müllerian hormone (AMH) and Inhibin B (INHB) are considered as possible biomarker of central precocious puberty(CPP). This study investigated serum AMH and INHB level in central precocious puberty andanalyzed clinical factors associated with these two hormone levels.Methods: In total, 48 girls with CPP and 35 age – matched prepubertal girls were enrolled in the study. The subjects were divided into two groups as CPP ...

Background: Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is caused by a deficiency in GnRH production, secretion or action and a highly heterogeneous disorder with wide phenotypic spectrum including Kallmann syndrome (KS) with anosmia and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). More than 30 different causative genes have been identified in several studies. FGFR1 mutations have been identified in about 3–10&#3...

Purpose: Multiple endocrine neoplasia (MEN) is a rare, autosomal dominantly inherited cancer syndrome caused by a mutation in MEN1 or RET gene. Identification of the genetic causes of the MEN is critical because genotype provides information on timing of prophylactic surgery in patients with MEN type 2 who have clinically silent tumors. Therefore, this study investigated clinical phenotype and molecular characteristics of children with MEN in...

Purpose: Type 1 diabetes mellitus (DM) is the most common cause of diabetes in children and adolescents. Prevalence of monogenic DM is estimated for about 1%–5% of all patients with DM. Overlapping clinical features of various forms of diabetes make differential diagnosis challenging. This study was performed to investigate frequency and genetic etiologies of monogenic diabetes in a single academic center.Methods: This study included 466 consecutive...

Background: Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is caused by a deficiency in GnRH production, secretion or action. IGD is a highly heterogeneous disorder with wide phenotypic spectrum including Kallmann syndrome (KS) with anosmia and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). More than 30 different causative genes have been identified in several studies. However, there are no data on the prevalence, clinical characteristics, and mole...

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...