A5048535730- Sexual Differentiation and Disorders
- Cardiovascular Disease and Adiposity
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Hormonal and reproductive studies
- Birth, Development, and Health
- Cardiomyopathy and Myosin Studies
- Cardiovascular Health and Disease Prevention
- Hormonal Regulation and Hypertension
- Growth Hormone and Insulin-like Growth Factors
- Cardiovascular Function and Risk Factors
- Thyroid Disorders and Treatments
- Neonatal Health and Biochemistry
- Fetal and Pediatric Neurological Disorders
- Lipid metabolism and disorders
- Prenatal Screening and Diagnostics
- Ultrasound Imaging and Elastography
- Genetics and Neurodevelopmental Disorders
- Assisted Reproductive Technology and Twin Pregnancy
- Adrenal Hormones and Disorders
- Liver Disease Diagnosis and Treatment
- Cancer, Hypoxia, and Metabolism
- Urological Disorders and Treatments
- Adrenal and Paraganglionic Tumors
- Congenital Diaphragmatic Hernia Studies
- Metabolism and Genetic Disorders
Duchess of Kent Children's Hospital
2022
University College London
2019-2022
Great Ormond Street Hospital for Children NHS Foundation Trust
2022
University of Hong Kong
2013-2019
Queen Mary Hospital
2013-2019
Great Ormond Street Hospital
2019
Abstract Context The genetic basis of human sex development is slowly being elucidated, and >40 different causes differences (or disorders) (DSDs) have now been reported. However, reaching a specific diagnosis using traditional approaches can be difficult, especially in adults where limited biochemical data may available. Objective We used targeted next-generation sequencing approach to analyze known candidate genes for DSDs individuals with no molecular diagnosis. Participants Design...
Differences of sex development (DSD) represent a wide range conditions presenting at different ages to various health professionals. Establishing diagnosis, supporting the family, and developing management plan are important.We aimed better understand presentation prevalence pediatric DSD.A retrospective, observational cohort study was undertaken in single tertiary center all children young people (CYP) referred DSD multidisciplinary team over 25 years (1995-2019). In total, 607 CYP (520...
We reported a family with two male siblings affected infantile dilated cardiomyopathy (DCM). Extensive evaluation failed to identify the underlying cause for DCM. Next generation sequencing (NGS) targeted enrichment identified hemizygous variant c.718G>C (p.Gly240Arg) in TAZ gene. This has been three other families X linked DCM and is therefore likely pathogenic. NGS allows efficient screening of large number uncommon genes complex disorders like DCM, which there substantial genetic...
Aim To determine the structural and functional alterations of systemic arteries in obese adolescents their relationships with adiposity, metabolic lipid profile, serum liver enzyme levels. Methods Carotid intima‐media thickness ( IMT ), carotid stiffness index, brachial‐ankle pulse wave velocity baPWV ) were measured 56 58 lean controls. Obese had additional ultrasound determination fasting blood indices glucose metabolism levels enzymes. Results P < 0.0001), index 0.0001) = 0.001)...
Background Myocardial fibrosis has been proposed to play an important pathogenetic role in left ventricular (LV) dysfunction obesity. This study tested the hypothesis that calibrated integrated backscatter (cIB) as a marker of myocardial is altered obese adolescents and explored its associations with adiposity, LV deformation, metabolic parameters. Methods/Principal Findings Fifty-two 38 non-obese controls were studied conventional speckle tracking echocardiography. The average cIB septum...
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)
Childhood obesity and various obesity-related co-morbidities have become a serious global healthcare problem. Predictive risk stratification early detection of high-risk obese youths can potentially help modify the outcomes before irreversible damage taking place. Newer surrogate markers for assessing pre-clinical cardiovascular alterations good predictive values future risks. However, local data regarding arterial in youth are lacking at present.
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)
Childhood adrenocortical carcinoma is rare and has poor prognosis. Histopathological examination often helps in differentiating between benign versus malignant adrenal tumors. However, the diagnostic accuracy of biopsies varies could be affected by sampling quality specimen. Urine steroid profiling (USP) been used to differentiate tumors from ones. We report a case virilizing which diagnosis was made with help characteristic USP findings
Complete gonadal dysgenesis with 46 XY karyotype, also known as Swyer-James syndrome, is characterized by complete sex reversal a female phenotype and unambiguous external genitalia. Sex-determining region Y (SRY) gene mutations causing loss-of-function of the were identified in 10-15% affected individuals. These individuals have high risk developing tumors such germinoma gonadoblastoma streaked gonads.
Bulleted Statements: What's already known about this topic? The incidence of discordant fetal sex was estimated to be 1 in 1500–2000. Comprehensive evaluation is required investigate the underlying cause. What does study add? Chimera one possible causes genotype–phenotype discordance. It could detected prenatally with combination noninvasive prenatal screening and ultrasound. Genetic counseling prospective parents on chimera can complex where early support information from experienced...