hrp0095t17 | Section | ESPE2022

Impact on predicted adult height and basal gonadotropin levels through triptorelin 6-month formulation in patients with central precocious puberty

Joo Yoo Eun , Yang Aram , 아람 양

Background: Triptorelin, a gonadotropin-releasing hormone (GnRH) agonist, is available as 1-, 3-, and 6-month formulation for treatment of central precocious puberty (CPP). The triptorelin 22.5mg as 6-month formulation, which has recently been approved for use in CPP and offers greater convenience to children by reducing the injection frequency, but related research is very limited. The aim of this study was to study on the impact of 6 month formulation on pre...

hrp0095p2-176 | Growth and Syndromes | ESPE2022

A case of 1q21 recurrent microdeletion syndrome with growth hormone deficiency, facial dysmorphism, and microcephaly

A Kim Hyun , Kim Jinsup , Ju Lee Hyun , Yang Aram

1q21.1 recurrent microdeletion syndrome is a rare chromosomal disorder caused by a genetic abnormality of non-allelic homologous recombination in the sequence of flanking a copy number variation event during meiosis. The characteristic features of 1q21 microdeletion syndrome are dysmorphic facial appearances with microcephaly, and mild to moderate developmental delay of speech and motor, eye abnormality, short stature, skeletal malformation, and psychiatric and behavioral diso...

hrp0095p2-184 | Growth and Syndromes | ESPE2022

Clinical characteristics and genetic analysis of BLM gene mutation with Bloom syndrome without facial erythema changes

Huang Hui , Yang Yu , Shuai Xia , Xiong Xiangyu , Chen Ka

Objective: To retrospectively analyze the clinical data, laboratory examination, gene test results, diagnosis and treatment of a case of small gestational age, short stature and microcephaly in the department of Endocrinology, Genetics and Metabolism of Jiangxi Children's Hospital.Methods: The detailed clinical symptoms and family history of the children and their families were evaluated. 2ml peripheral blood of the...

hrp0092p1-63 | Fat, Metabolism and Obesity | ESPE2019

Altered Gut Microbiota in Obese Children: Sex-associated Signature

Chen Ruimin , Ai Zhuanzhuan , Yang Xiaohong , Zhang Ying , Yuan Xin

Background: The incidence of obesity, especially in children, have dramatically increased over the last few decades. Recently, studies highlighted the involvement of gut microbiota in the pathophysiology of obesity. Gender-related differences have been reported in animal and adult. Nonetheless, reports related on the features of gut microbiota in children with obesity is limited and no one reported the different composition of gut microbiota at different sex o...

hrp0092p1-191 | Fat, Metabolism and Obesity (1) | ESPE2019

Effect of Probiotics Intake on Obese Children

Chen Ruimin , Ai Zhuanzhuan , Yang Xiaohong , Zhang Ying , Yuan Xin

Background: Childhood obesity has been a worrisome public health issues today. Recent studies conducted in adult populations and animals have suggested beneficial effects of probiotics on obesity, while, the experience is limited in the pediatric age group and the results are conflict.Object: The primary objective was to determine the effect of Probiotics consumption on weight change. The secondary objective was to deter...

hrp0092p1-224 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

The Efficacy and Adverse Reactions of the Letrozole or Gonadotropin Releasing Hormone Analog Combined with Recombinant Human Growth Hormone in Short Pubertal Boys

Chen Ruimin , Zhang Ying , Chen Shijun , Yang Xiaohong , Yuan Xin

Objective: To explore the therapeutic effects and adverse reactions of a combination of letrozole or Gonadotropin releasing hormone analog (GnRHa) and recombinant human growth hormone (rhGH), compared with rhGH alone, in pubertal short boys.Methods: Sixty-four pubertal short boys were divided into three groups, one group were treated with rhGH (rhGH group, n=21), one group were treated with the combination o...

hrp0092p1-368 | GH and IGFs (2) | ESPE2019

Renal Complication of Hematuria and Proteinuria after Recombinant Human Growth Hormone Therapy in Children

Kim Chan Jong , Park Na Ri , Yang Eun Mi

Introduction: Treatment with recombinant human growth hormone (rhGH) is useful for growth failure in short stature children. But there are some reports of renal disease or complication occurring during rhGH treatment. GH and insulin-like growth factor-1 (IGF-1), together with other growth factors and cytokines, have important roles in adaptive morphological and functional changes in the kidney. This study was aimed to reveal the renal complication of hematuria...

hrp0092p1-372 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

A Considerable Role of NPR2 Mutation in Idiopathic Short Stature: Identification of Two Novel Mutations

Hwang Il Tae , Yi KyungHee , Kim Eun Young , Yang Seung

Introduction: C-type natriuretic peptide (CNP, NPPC gene) and its receptor, natriuretic peptide receptor B (NPR-B, NPR2 gene), is critical for endochondral ossification in growth plate. Biallelic NPR2 mutations are known as acromesomelic dysplasia, type Maroteaux which is characterized by severe short stature. A monoallelic NPR2 mutation has been suggested to mildly impair long bone growth.Obje...

hrp0092p2-238 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Risk Factors for Hypogonadism in Patients with β-Thalassemia Major: A Cross-Sectional Study

Jiang Zhuan-nan , Liang Li-yang , Meng Zhe

Objective: To investigate the prevalence of hypogonadism in patients with β-Thalassemia Major (β-TM) and explore the risk factors.Method: 42 β-TM patients (≥= 10 years old) were investigated by questionnaire, physical examination and laboratory examination to evaluate their stages of puberty development and sex hormone level.And then,effects of age, the beginning age of chelation, iron overload, geno...

hrp0092p3-32 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A Chinese Girl Suffered Both Osteogenesis Imperfecta and Mucopolysaccharidosis: Trio WES Could Tell us More

Zheng Zhangqian , Yang Lin , Lu Wei , Luo Feihong

Case: A 7-year-old female revealed short bowed femurs and humeri with old fractures and bowed tibias and fibulas. Her height was 97cm and weight was 11kg. Her younger sister had the same phenotype as same as her mother. The Trio WES test showed that they all inherited from their mother's COL1A2 gene mutation (c.928G>A; p.G328S) and diagnosed Osteogenesis Imperfecta, type IV. Unfortunately, the 7-year-old girl also presents coarse face, short neck, limi...