Pediatric Endocrinology, Genetics and Metabolism Outpatient Clinic（番禺院区）

Basic information: The Department of Pediatric Endocrinology, Genetics and Metabolism is dedicated to the clinical diagnosis and treatment of pediatric endocrine, genetic and metabolic diseases and to neonatal disease screening; it is a professional team integrating screening, diagnosis, treatment and long-term follow-up. The Department of Pediatric Endocrinology, Genetics and Metabolism uses Internet+ online consultations and in-person consultations and applies a model of early postnatal intervention, early in-hospital diagnosis, precision diagnosis and treatment, and regular follow-up management to provide children with endocrine or genetic and metabolic diseases with services throughout the entire care process. It is the Guangdong Provincial Center for Neonatal Genetic and Metabolic Disease Screening and was nominated for Guangdong Hospital’s “Strongest Department” in 2021. Scope of diagnosis and treatment: The department’s scope of diagnosis and treatment covers all diseases related to the pediatric endocrine and genetic-metabolic disease systems. The department’s distinctive medical services mainly include: (I) Common pediatric endocrine diseases: such as short stature, precocious puberty, delayed sexual development, disorders of sex development, diabetes, obesity, diabetes insipidus, thyroid diseases, parathyroid diseases, pituitary stalk interruption syndrome, adrenal diseases, etc.; relevant endocrine examinations, diagnosis, treatment and long-term standardized management are provided, with a commitment to health education for children and their family members. (II) Common pediatric inherited metabolic diseases and chromosomal diseases: including congenital adrenal hyperplasia, congenital adrenal hypoplasia, hyperlactatemia, methylmalonic acidemia, propionic acidemia, hyperphenylalaninemia, glycogen storage diseases, hyperammonemia, maple syrup urine disease, mucopolysaccharidosis, hepatolenticular degeneration, Menkes disease, hereditary hemochromatosis, a broad group of metabolic disorders involving the metabolism of amino acids, carbohydrates, fatty acids, steroid hormones and metal elements, mitochondrial diseases, lysosomal storage diseases, peroxisomal diseases and other metabolic diseases, as well as chromosomal diseases such as Turner syndrome, Klinefelter syndrome, velocardiofacial syndrome and Williams syndrome; precision diagnosis and treatment are provided for these diseases. (III) Multidisciplinary diagnosis and treatment of difficult-to-diagnose and rare pediatric endocrine, genetic and metabolic diseases, mainly including: 1. Multidisciplinary diagnosis and treatment of diseases involving abnormalities of bone development and metabolism: In collaboration with pediatric orthopedics, pediatric neurology, radiology, pathology, etc., precision diagnosis and treatment are provided for hypophosphatemic rickets, achondroplasia, chondrodysplasia, metaphyseal dysplasia, Noonan syndrome, Silver-Russell syndrome, osteogenesis imperfecta, mucopolysaccharidosis, congenital scoliosis and other bone metabolic diseases. 2. Multidisciplinary diagnosis and treatment of disorders of sex development: In collaboration with pediatric urology, ultrasonography, radiology, pathology, etc., precision diagnosis and treatment are provided for disorders of sexual development such as micropenis and gonadal (testicular/ovarian) dysplasia. 3. Multidisciplinary diagnosis and treatment of pubertal development: In collaboration with adolescent gynecology, the breast department, the reproductive center, ultrasonography, radiology, etc., multidisciplinary precision diagnosis and treatment are provided for common diseases of the pubertal-to-adult transition period, such as hypogonadotropic hypogonadism, breast hypoplasia, Turner syndrome, Klinefelter syndrome and Kallmann syndrome. 4. Multidisciplinary diagnosis and treatment of special types of obesity and diabetes: In collaboration with nutrition, otolaryngology, ophthalmology, ultrasonography, radiology, etc., precision diagnosis and treatment are provided for disorders of glucose and lipid metabolism such as Prader-Willi syndrome, familial hypercholesterolemia, hyperinsulinemia and familial diabetes. Our department established its laboratory relatively early and began testing for genetic and metabolic diseases. The laboratory is equipped with a variety of advanced instruments, equipment and technologies, such as high-performance liquid chromatography-tandem mass spectrometers, gas chromatography-mass spectrometers, high-performance liquid chromatographs, fluorescence enzyme immunoassay analyzers, etc.; it took the lead in conducting neonatal genetic and metabolic disease screening, tandem mass spectrometric analysis of amino acids and acylcarnitines, urinary organic acid analysis, urinary pterin profile analysis, and testing and analysis of neurotransmitters and their metabolites; it can perform clinical testing for more than 100 metabolic diseases. Specialized diagnostic and treatment technologies: The department can perform routine hormone tests in pediatric endocrinology and examinations related to genetic and metabolic diseases, and conduct various endocrine stimulation tests to assess endocrine function; it has a mass spectrometry analysis platform and, in conjunction with the testing and examination platforms of the hospital’s Clinical Laboratory Center, Department of Radiology, Department of Ultrasound, Department of Pathology, Molecular Medicine Center and other departments, conducts precision diagnosis and treatment of endocrine, genetic and metabolic diseases. Scientific research: The department vigorously conducts clinical and basic research on endocrine, genetic and metabolic diseases. In recent years, it has completed 2 in vitro clinical diagnostic reagent trials and participated in multiple clinical drug trial studies. Department members have led 15 projects, including projects of the National Natural Science Foundation, national key R&D projects, projects of the Ministry of Science and Technology, the Provincial Natural Science Foundation, provincial science and technology development projects and other projects; they have received 5 science and technology achievement awards; published more than 100 papers in core journals, of which more than 60 were indexed by SCI; published 4 books and obtained 2 invention patents.