{"title":"Van Wyk-Grumbach综合征的临床特征:来自印度卡纳塔克邦Kalyana三级保健中心的病例系列。","authors":"Swaraj Waddankeri, Meenakshi Waddankeri, Shrikant Waddankeri, Kshitij Arora","doi":"10.17925/EE.2023.19.1.98","DOIUrl":null,"url":null,"abstract":"<p><p>Van Wyk-Grumbach syndrome is a rare, female juvenile hypothyroidism disorder that is characterized by precocious puberty with clinical, radiological and hormonal pathologies. We present a case series of three patients with this unusual condition who were evaluated and followed up over a 3-year period between January 2017 and June 2020. All three patients presented with short stature (<3rd centile), low weight (<3rd centile), absence of goitre, no axillary or pubic hair, delayed bone age by more than 2 years, elevated thyroid-stimulating hormone with low T3 and T4 (primary hypothyroidism), and raised follicle-stimulating hormone with pre-pubertal levels of luteinizing hormone. Abdominal ultrasonography showed bilateral multi-cystic ovaries in two patients and a right-sided bulky ovary in the third patient. One of the patients also had a pituitary 'macroadenoma'. All the patients were successfully managed with levothyroxine. We discuss the pathophysiological mechanisms with a brief literature review.</p>","PeriodicalId":75231,"journal":{"name":"TouchREVIEWS in endocrinology","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10258612/pdf/","citationCount":"0","resultStr":"{\"title\":\"The Clinical Septet of Van Wyk-Grumbach Syndrome: A Case Series from a Tertiary Care Centre in Kalyana Karnataka, India.\",\"authors\":\"Swaraj Waddankeri, Meenakshi Waddankeri, Shrikant Waddankeri, Kshitij Arora\",\"doi\":\"10.17925/EE.2023.19.1.98\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Van Wyk-Grumbach syndrome is a rare, female juvenile hypothyroidism disorder that is characterized by precocious puberty with clinical, radiological and hormonal pathologies. We present a case series of three patients with this unusual condition who were evaluated and followed up over a 3-year period between January 2017 and June 2020. All three patients presented with short stature (<3rd centile), low weight (<3rd centile), absence of goitre, no axillary or pubic hair, delayed bone age by more than 2 years, elevated thyroid-stimulating hormone with low T3 and T4 (primary hypothyroidism), and raised follicle-stimulating hormone with pre-pubertal levels of luteinizing hormone. Abdominal ultrasonography showed bilateral multi-cystic ovaries in two patients and a right-sided bulky ovary in the third patient. One of the patients also had a pituitary 'macroadenoma'. All the patients were successfully managed with levothyroxine. We discuss the pathophysiological mechanisms with a brief literature review.</p>\",\"PeriodicalId\":75231,\"journal\":{\"name\":\"TouchREVIEWS in endocrinology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10258612/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"TouchREVIEWS in endocrinology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.17925/EE.2023.19.1.98\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"TouchREVIEWS in endocrinology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.17925/EE.2023.19.1.98","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
摘要
Van Wyk-Grumbach综合征是一种罕见的女性青少年甲状腺功能减退症,以性早熟为特征,伴有临床、放射学和激素病理学。我们提出了一个由三名患有这种不寻常疾病的患者组成的病例系列,他们在2017年1月至2020年6月的3年期间进行了评估和随访。三名患者均表现为身材矮小(
The Clinical Septet of Van Wyk-Grumbach Syndrome: A Case Series from a Tertiary Care Centre in Kalyana Karnataka, India.
Van Wyk-Grumbach syndrome is a rare, female juvenile hypothyroidism disorder that is characterized by precocious puberty with clinical, radiological and hormonal pathologies. We present a case series of three patients with this unusual condition who were evaluated and followed up over a 3-year period between January 2017 and June 2020. All three patients presented with short stature (<3rd centile), low weight (<3rd centile), absence of goitre, no axillary or pubic hair, delayed bone age by more than 2 years, elevated thyroid-stimulating hormone with low T3 and T4 (primary hypothyroidism), and raised follicle-stimulating hormone with pre-pubertal levels of luteinizing hormone. Abdominal ultrasonography showed bilateral multi-cystic ovaries in two patients and a right-sided bulky ovary in the third patient. One of the patients also had a pituitary 'macroadenoma'. All the patients were successfully managed with levothyroxine. We discuss the pathophysiological mechanisms with a brief literature review.