{"title":"儿童假性甲状旁腺功能减退1例","authors":"G. V. Ivanenko, L. O. Iatsun, E. Globa","doi":"10.30978/DE2018-2-43","DOIUrl":null,"url":null,"abstract":"We have described a clinical case of treatment of a child with pseudohypoparathyroidism — pathology characterized by calcium and phosphate metabolic disorder, specific phenotype, as well as often accompanied by delay in physical and intellectual development. Presented is the case record of a child who consulted an endocrinologist and had been previously diagnosed with congenital hypothyroidism. We have described clinical aspects of disease in the patient, phasing of their emergence, retrospective dynamics of lab values against the background of previous treatment, results of genetic research, which enabled us to confirm the diagnosis of pseudohypoparathyroidism. Emphasis is placed on importance of differential diagnostics of calcium and phosphate metabolic disorders in children, particularly in those with signs of hormone resistance.","PeriodicalId":243962,"journal":{"name":"Ukrainian Journal of Pediatric Endocrinology","volume":"47 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2018-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Clinical case of pseudohypoparathyroidism in a child\",\"authors\":\"G. V. Ivanenko, L. O. Iatsun, E. Globa\",\"doi\":\"10.30978/DE2018-2-43\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"We have described a clinical case of treatment of a child with pseudohypoparathyroidism — pathology characterized by calcium and phosphate metabolic disorder, specific phenotype, as well as often accompanied by delay in physical and intellectual development. Presented is the case record of a child who consulted an endocrinologist and had been previously diagnosed with congenital hypothyroidism. We have described clinical aspects of disease in the patient, phasing of their emergence, retrospective dynamics of lab values against the background of previous treatment, results of genetic research, which enabled us to confirm the diagnosis of pseudohypoparathyroidism. Emphasis is placed on importance of differential diagnostics of calcium and phosphate metabolic disorders in children, particularly in those with signs of hormone resistance.\",\"PeriodicalId\":243962,\"journal\":{\"name\":\"Ukrainian Journal of Pediatric Endocrinology\",\"volume\":\"47 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-06-29\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Ukrainian Journal of Pediatric Endocrinology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.30978/DE2018-2-43\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ukrainian Journal of Pediatric Endocrinology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.30978/DE2018-2-43","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Clinical case of pseudohypoparathyroidism in a child
We have described a clinical case of treatment of a child with pseudohypoparathyroidism — pathology characterized by calcium and phosphate metabolic disorder, specific phenotype, as well as often accompanied by delay in physical and intellectual development. Presented is the case record of a child who consulted an endocrinologist and had been previously diagnosed with congenital hypothyroidism. We have described clinical aspects of disease in the patient, phasing of their emergence, retrospective dynamics of lab values against the background of previous treatment, results of genetic research, which enabled us to confirm the diagnosis of pseudohypoparathyroidism. Emphasis is placed on importance of differential diagnostics of calcium and phosphate metabolic disorders in children, particularly in those with signs of hormone resistance.