ESPE Abstracts

Objective: To investigate whether earlier mother’s age at menarche is a risk factor of daughter’s early menarche, obesity, and short stature in young Korean female.Research design and methods: We tested associations between mother’s age at menarche, mother’s adult body size and her daughter’s age at menarche, body size from the data of 6th Korea National Health and Nutrition Examination Survey (KNHANES VI) (2013–2015). We an...

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 ...

Sleep deficit is the well known risk factor for obesity in children and adult. Adenotonsillar hypertrophy is the main cause of obstructive sleep apnea(OSA) in childhood. Adult type (type II ) OSA is increasing in obese children. Eleven year old boy visited our clinic with chief complain of polyuria, polydipsia onset two weeks ago. His grandmother and father are type 2 diabetes mellitus. Adenotonsillectomy was recommended for tonsillar hyperthrophy (Grade 3) and had snoring for...

Background: Precocious puberty in girls may result in loss of FAH, and particularly may relates to obesity when entering adulthood. However,The influence of the timing of pubertal onset on the FAH and the change of body weight during pubertal stages is still controversial.Objective: The research is to investigate the pubertal growth pattern and the change of BMI levels in girls with ICPP and those who have normal onset of puberty but at different ages.</...

Background: 3-Ketothiolase deficiency (3KTD) is an inherited error of metabolism affecting isoleucine catabolism and ketone body utilization. This disorder is clinically characterized by intermittent ketoacidotic episodes with no clinical symptoms.Objective and hypotheses: To research the gene mutation of 3 acetoacetyl-CoA thiolase in non-diabetic ketoacidosis and provide a basis for diagnosis of 3KTD.To reveal the role of 3 acetoacetyl-CoA thiolase in i...

Background: During puberty, gray matter (GM) volume decreases and white matter (WM) volume increases in brain. It has been suggested that pubertal hormones may induce some neuroanatomical changes during puberty. Central precocious puberty (CPP) is caused by premature activation of the hypothalamus-pituitary-gonadal axis in inappropriately early age. However, little is known about the differences of brain structure (especially brain volume) in idiopathic CPP. Also the relation ...

Purpose: Since the COVID-19 outbreak, the number of obese children and adolescents has increased rapidly. Obesity acts as a gateway to chronic adult diseases, so proper management during childhood and adolescence is essential. We aimed to identify the interannual changes in the prevalence of obesity, diabetes mellitus, dyslipidemia, and hypertension, and to investigate factors contributing to these changes before and during the COVID-19 pandemic.<p class="...

Background: Skeletal dysplasias (SD) are a heterogeneous group of heritable conditions with generalized bone and cartilage impairment caused by pathogenic variants in genes primarily affecting skeletogenesis and/or bone homeostasis. In this study, we conducted a next-generation sequencing (NGS) in patients with a suspected SD to reveal the underlying etiologies of skeletal dysplasia.Methods: Thirty-four pediatric patient...

Background: Fibrochondrogenesis 1 (FBCG1) is known as an autosomal recessive syndrome, which is related to short-limbed skeletal dysplasia. The disease is clinically characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Mutations in the gene encoding the α1 chain of type XI collagen (COL11A1) are s...

Objective: Acanthosis nigricans (AN) is characterized by velvety and papillomatous pigmented hyperkeratosis of the flexures and neck. Mutations in fibroblast growth factor receptor 3 (FGFR3) gene have been identified as one of the causes of skeletal dysplasia with AN. However, there have been few reports about familial AN with hypochondroplasia. Here we report a familial case with FGFR3 gene mutation.Case reports: A 16-y...