hrp0097p1-325 | Growth and Syndromes | ESPE2023

Clinical and Genetic Analysis of Ten Short Stature Patients with ACAN Variants

Binbin Cai , Hong Chen , Ruimin Chen

Objective: To explore the clinical manifestations and genetic characteristics of 10 patients with ACAN variants presented as short stature, and analyze the efficacy of recombinant human growth hormone (rhGH) and/or combined with gonadotropin-releasing hormone agonist (GnRHa) in some patients with premature thelarche.Methods: We reviewed clinical data of 10 patients with ACAN variants. Genetic testing was performed on pro...

hrp0089p2-p338 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Physical Assessment in Chinese Children with 5a-reductase Type 2 Deficiency

Zhao Xiu , Song Yanning , Chen Shaoke , Wang Xiumin , Luo Feihong , Yang Yu , Chen Linqi , Chen Ruimin , Chen Hui , Su Zhe , Wu Di , Gong Chunxiu

Background: 5α - reductase type 2 deficiency (5αRD) is an autosomal recessive hereditary disease which has an incidence of 11.2%–15.5% among population with 46, XY DSD (disorders of sex development).Objective: To study the growth pattern in Chinese pediatric patients with 5αRD.Subjects: Data were from 187 patients with 5αRD (age from 0–16 years old,with homozygous or compound heterozygous mutations in ...

hrp0097p1-296 | GH and IGFs | ESPE2023

The efficacy and safety of rhGH treatment combined with letrozole/GnRHa in adolescent boys

Zhang Ying , Chen Ruimin

Objective: In boys during puberty who were undergoing recombinant human growth hormone (rhGH) treatment, we compared the therapeutic efficacy and any adverse reactions, of co-therapy with letrozole/gonadotropin releasing hormone analog (GnRHa).Methods: Fifty-six pubertal growth hormone deficiency (GHD) boys were studied, they were treated with the combination of letrozole and rhGH (letrozole group) or GnRHa and rhGH (GnR...

hrp0097p1-355 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Effects of probiotic supplementation during childhood on the gut microbiota when puberty onset in lactating female mice

Yuan Xin , Chen Ruimin

Background: The relationship between probiotic supplementation and puberty onset has not been explored.Objective: To investigate the effects of probiotics oral intake during childhood on the gut microbiota when puberty onset in lactating female mice.Method: Feeding female mice with probiotic suspension of Bifidobacterium longum, Lactobacillus bulgaricus and Streptococcus thermophil...

hrp0097p1-377 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Prognostic Factors and Long-Term Safety of GnRHa in the Treatment of Idiopathic Central Precocious Puberty in Girls

Wu Wenyong , Chen Ruimin

Objective: To investigate the relevant prognostic factors and long-term safety of gonadotropin-releasing hormone analogs (GnRHa) in the treatment of idiopathic central precocious puberty (ICPP).Methods: This was a retrospective study. Data analysis included 142 girls with ICPP who reached final adult height (FAH). Among them, 101 girls were treated with GnRHa while 41 girls were untreated. The Pearson and Spearman correl...

hrp0098p2-315 | Late Breaking | ESPE2024

Semaglutide modulated the gut microbiome composition and improved bile acid profiles in a mouse model of diabetic nephropathy

Kang Huimin , Chen Ruimin

Background: Semaglutide is a glucagon-like peptide-1 receptor agonist which has been confirmed that it offered kidney-protective effects in patients with type 2 diabetes and chronic kidney disease. However, the exact mechanism by which Semaglutide exerts its reno-protection remains largely unknown.Purpose: This study aim ed to investigate whether Semaglutide has beneficial effects in diabetic nephropathy mice via the gut...

hrp0098p2-350 | Late Breaking | ESPE2024

The genetic and clinical aspects of 10 patients with GH-IGF-1 axis gene variants

Huang Xiaozhen , Chen Ruimin

Objective: This study analyzed ten short stature patients with growth hormone-insulin-like growth factor-1 (GH-IGF-1) axis gene variants, and aim ed to explore both clinical and genetic characteristics, as well as the recombinant human growth hormone (rhGH) treatment response through a review of the literature.Methods: The clinical characteristics and response to rhGH treatment in 10 patients with GH1, GHR</...

hrp0098p2-387 | Late Breaking | ESPE2024

Development and validation of central precocious puberty diagnostic prediction models in girls based on machine learning

Wu Wenyong , Chen Ruimin

Objective: The models of diagnosis of central precocious puberty (CPP) in girls were constructed based on machine learning algorithm to assist the management of CPP diagnosis in girls.Methods: Girls who visited the department of endocrinology, genetics and metabolism of the Fuzhou Children's Hospital of Fujian Medical University from January 2014 to June 2023 and were consistent with the diagnosis of precocious pube...

hrp0098p3-334 | Late Breaking | ESPE2024

A Case of 21-Hydroxylase Deficiency with Familial Hypercholesterolemia

Zhang Ying , Chen Ruimin

Objective: To describe the clinical characteristics of a child with 21-hydroxylase deficiency (21OHD) combined with familial hypercholesterolemia (FH), who also developed Kawasaki disease (KD), and to follow up over a long period.Methods: Clinical data of a boy with 21OHD combined with FH were collected. Treatments with hydrocortisone, fludrocortisone, atorvastatin, and ezetimibe were administered, with monitoring of the...

hrp0098p3-344 | Late Breaking | ESPE2024

Effects of probiotic supplementation during childhood on the gut microbiota when puberty onset in lactating female mice

Yuan Xin , Chen Ruimin

This study investigated the effects of probiotics oral intake during childhood on gut microbiota at the time of puberty onset in lactating female mice. Female mice were administered a probiotic suspension containing Bifidobacterium longum, Lactobacillus bulgaricus and Streptococcus thermophilus from postnatal 21 days for a duration of 7 days. The timing of vulva opening was observed. Fecal samples were collected and analyzed for 16s rDNA and short-ch...