ESPE Abstracts

Objective: The mechanism underlying postnatal growth failure and catch up growth in small for gestational age (SGA) is poorly understood. This study attempted to identify exosomal miRNA signature associated with catch – up growth in SGA children.Methods: A total sixteen SGA children and 10 appropriate for gestational age (AGA) children included in this study. Exosomal miRNA was analyzed with next generation sequenc...

Background: Idiopathic short stature (ISS) is defined as short stature of unknown origin. It is apparently not associated with GH deficiency (GHD). High-dose GH treatment is considered to be more beneficial in children with ISS than in those with GHD. However, responses to GH in children with ISS are highly variable and dose-dependent, and the optimal treatment is controversial.Aims: To compare the effects of low-dose GH treatment in children with GHD vs...

Background: Familial precocious puberty is defined by the existence of more than one affected member either in the proband generation or in the pedigree. Recently, several gene mutation cause familial CPP is elucidated, gain of function mutations in KISS1 and KISS1R, loss of function mutations in the MKRN3, the feature of familial precocious puberty is not fully understood.Objective: To investigate the clinical characteristics of familial precocious pube...

Purpose: In the diagnosis of central precocious puberty (CPP), the gonadotropin-releasing hormone (GnRH) stimulation test using intravenously injected gonadorelin is the gold standard. However, gonadorelin is not always readily available. In this study, the diagnostic accuracy of a test based on the GnRH agonist triptorelin acetate (triptorelin) was compared to that of the classical gonadorelin-based test in the diagnosis of CPP in girls.<p class="abstext"...

Abstract: Background: Makorin ring finger protein 3 (MKRN3) is most common genetic cause of central precocious puberty (CPP) and associated with the initiation of puberty. Although its actual function is veiled. Recent study reported MKRN3 interacted with and suppressed neural pentraxin-1 precursor (NPTX1) activity via polyubiquitination during early puberty in mice.Objective: The aim of this study was t...

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 ...

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: It is important to find and manage the cause of short stature in children. GH stimulation test is considered as a ‘gold standard’ for the diagnosis of GH deficiency (GHD), and several pharmacologic agents including insulin, glucagon, L-dopa, or clonidine are used for GH stimulation test (GHST). However, diagnostic value, sensitivity or specificity of each GHST is not clear.Objective and hypotheses: This study was desi...