A5083474463- Sexual Differentiation and Disorders
- Growth Hormone and Insulin-like Growth Factors
- Hormonal and reproductive studies
- Birth, Development, and Health
- Hypothalamic control of reproductive hormones
- Cancer-related molecular mechanisms research
- Hormonal Regulation and Hypertension
- Urinary and Genital Oncology Studies
- Galectins and Cancer Biology
- Ubiquitin and proteasome pathways
- Epigenetics and DNA Methylation
- Urological Disorders and Treatments
- Circular RNAs in diseases
- Metabolism and Genetic Disorders
- Sarcoma Diagnosis and Treatment
- Ovarian function and disorders
- Cancer-related gene regulation
- Endoplasmic Reticulum Stress and Disease
- RNA modifications and cancer
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Lipid metabolism and disorders
- Testicular diseases and treatments
- Genomics and Chromatin Dynamics
- Renal and related cancers
- interferon and immune responses
Ruijin Hospital
2014-2025
Shanghai Jiao Tong University
2015-2025
Center for Excellence in Molecular Cell Science
2020
Chinese Academy of Sciences
2020
Qingdao University
2017
Affiliated Hospital of Qingdao University
2017
Central precocious puberty (CPP) refers to a human syndrome of early initiation with characteristic increase in hypothalamic production and release gonadotropin-releasing hormone (GnRH). Previously, loss-of-function mutations MKRN3, encoding putative E3 ubiquitin ligase, were found contribute about 30% cases familial CPP. MKRN3 was thereby suggested serve as 'brake' mammalian onset, but the underlying mechanisms remain yet unknown. Here, we report that genetic ablation Mkrn3 did accelerate...
Abstract Context The evidence of long-term polyethylene glycol recombinant human GH (PEG-rhGH) in pediatric deficiency (GHD) is limited. Objective This study aimed to examine the effectiveness and safety PEG-rhGH children with GHD real world, as well effects dose on patient outcomes. Design A prospective, observational, posttrial (NCT03290235). Setting, participants intervention Children were enrolled from 81 centers China 4 individual clinical trials received weekly 0.2 mg/kg/wk (high-dose)...
To explore the application of colloidal gold method and chemiluminescence in detecting gonadotropin (Gn) morning urine for assessing pubertal development status children. A total 132 children diagnosed with central precocious puberty (CPP), early fast (EFP), premature thelarche (PT) at Ruijin Hospital Affiliated to Shanghai Jiao Tong University School Medicine from November 2021 December 2022 were included, along 685 healthy who underwent routine health examinations hospital's pediatric care...
Background The gut microbiome is important for host nutrition and metabolism. Whether the under normal diet regulate human height remains to be addressed. Our study explored possible relationship between microbiota, its metabolic products pathogenesis of idiopathic short stature disease (ISS) by comparing microbiota children with ISS height, also short-chain fatty acids (SCFAs) produced microbiota. Methods subjects this were 32 prepubescent aged 4-8 years. fecal microbial structure was...
Dwarfism is a common severe growth disorder, but the etiology unclear in majority of cases. Recombinant human hormone may be treatment option, it has limited efficacy. The currently known laboratory assays do not meet precision requirements for clinical diagnosis. Here, we have constructed targeted next-generation sequencing (NGS) panel selected genes that are suspected to associated with dwarfism genetic screening. Genetic screening 91 children short stature unknown was performed help NGS...
Catch-up growth (CUG) in small for gestational age (SGA) leads to increased risk of metabolic syndrome and cardiovascular diseases adults. It remains unclear if microbiota could play an important role CUG-SGA independent genetic or nutritional factors. The present study explored the gut in, its association with, disorders during CUG-SGA.An SGA rat model was established by restricting food intake pregnancy, rats were divided into catch-up (CUG-SGA) non-catch-up (NCUG-SGA) groups based on body...
To investigate the features and treatment status of children with type 1 diabetes mellitus (T1DM) in China.
Abstract Background Hypospadias is a common congenital malformation of male external genitalia, which mainly manifests as an abnormal urethral opening on the ventral side penis. The etiology and clinical phenotype hypospadias highly heterogeneous, its diagnosis challenging. Currently, over 70% patients have unknown etiology. Here, we performed targeted analysis gene mutations in 130 with to find precise genetic cause. Methods We developed next‐generation sequencing (NGS) panel, encompassing...
The mini-pubertal period of almost six hours in neonatal male rats is thought to be an important stage sexual development.The aim this study was investigate the effect hormone inhibition during mini-puberty on testicular function rats.We measured serum testosterone (T), luteinizing (LH) and follicle-stimulating (FSH) levels at different time points after birth by enzyme linked immunosorbent assay (ELISA) established a "no mini-puberty" model ether inhalation. mRNA expression androgen...
To analyze the clinical manifestations of primary adrenal insufficiency in Chinese boys, to investigate prevalence DAX1 and SF1 gene mutations, explore association between mutations manifestations.A total 25 boys with were enrolled. Mutational analysis genes was done by direct sequencing.DAX1 found 40% (10 25) 46,XY phenotypic referred insufficiency, six these novel. One mutation identified. These patients demonstrated diverse presentations. There no definite genetic mutations.DAX1 are a...
Abstract KBG syndrome is a rare genetic disease characterized mainly by skeletal abnormalities, distinctive facial features, and intellectual disability. Heterozygous mutations in ANKRD11 gene, or deletion of 16q24.3 that includes gene are the cause syndrome. We describe two patients presenting with short stature partial whereas no disability hearing loss was observed them. Two variants, c.4039_4041del (p. Lys1347del) c.6427C > G Leu2143Val), were identified this study. Both them...
Congenital lipoid adrenal hyperplasia (LCAH), as the most severe form of congenital (CAH), is caused by mutations in steroidogenic acute regulatory protein (STAR). Affected patients were typically characterized insufficiency first year life and present with female external genitalia regardless karyotype. Non-classic LCAH usually from 2 to 4 years old glucocorticoid deficiency mild mineralocorticoid deficiency, even develop naturally masculinized at birth when they have 46,XY We described...
Objective The clinical characteristics of Ulnar-mammary syndrome (UMS) caused by mutations in TBX3 (T-Box transcription factor 3) were studied and the correlation between genotype phenotype analyzed to improve awareness early diagnosis disease. Methods data a boy aged 13 years 5 months with left forearm deformity growth retardation as main features analyzed. Genomic exon detection was performed, results verified Sanger sequencing. Simultaneously, we performed literature review analyze...
Objective: To explore the value of amino-terminal propeptide C-type natriuretic peptide (NTproCNP) in evaluating effectiveness therapy with recombinant human growth hormone (rhGH) patients idiopathic short stature (ISS) and isolated deficiency (IGHD).
Background Glucocorticoids (GCs) are commonly used to treat autoimmune diseases and malignancies in children adolescents. Growth retardation is a common adverse effect of GC treatment pediatric patients. Accumulating evidence indicates that non-coding RNAs (ncRNAs) involved the pathogenesis glucocorticoid-induced growth (GIGR), but roles specific ncRNAs remain largely unknown. Methods In this study, 2-week-old male Sprague-Dawley rats had been treated with 2 mg/kg/d dexamethasone for 7 or 14...
Objectives: To investigate the prevalence of genetic mutations in steroid 5α-reductase-2 (SRD5A2), androgen receptor (AR) and steroidogenic factor-1 (SF-1) Chinese children with hypospadias, to also explore possible underlying molecular mechanisms this disease.
It is estimated that around 10–20% of hypospadias are caused by genetic abnormalities worldwide although the spectrum associated genes does vary across different ethnicities. The prevalence among Chinese population has been increasing last couple decades. However, pathogenesis underlying disease and its abnormality remains unclear. Here we performed a analysis 81 children with karyotype 46, XY phenotype in order to characterize components contribute development patients. 15 candidate genes,...
Abstract Background The clinical manifestations of nonclassical 11beta-hydroxylase deficiency are very similar to those non-classical 21-hydroxylase deficiency. For this study, we investigated the relationship between and molecular features congenital adrenal hyperplasia caused by reviewed related literature, which expected provide assistance for diagnosis analysis hyperplasia. Methods Clinical data 10 Chinese patients diagnosed with in our hospital from 2018 2022 were retrospectively...
Background Anogenital distance (AGD) is a biomarker used for the evaluation of fetal androgen action. The disruption action can affect development reproductive system and adversely future functions. However, AGD may differ by race. Currently, there lack data regarding in large Han Chinese samples. Objective neonates Shanghai, China, was measured, relevant factors that influenced were analyzed. Methods full-term singleton measured within 3 days birth, results grouped according to gestational...