Wessal Al Sakran, Mohammad Al-Qahtani, Mohammed Alkhalifa, Ali Alqahtani
{"title":"婴儿假性甲状旁腺功能减退1a型,误诊为先天性甲状腺功能减退。","authors":"Wessal Al Sakran, Mohammad Al-Qahtani, Mohammed Alkhalifa, Ali Alqahtani","doi":"10.5455/medarh.2023.77.70-73","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Hypothyroidism is a manifestation of multi-hormonal resistance in pseudohypoparathyroidism type Ia (PHP Ia).</p><p><strong>Objective: </strong>The aim of this article was to present 9 months old male patient as case of congenital hypothyroidism.</p><p><strong>Case report: </strong>We describe a 9 months old male diagnosed with congenital hypothyroidism at age 1.5 month, who developed later (at age 5 months) cyanotic attack associated with hypocalcaemia, hyperphosphatemia, and hyperparathyroidism, patient had typical characters of AHO, so the diagnosis of Pseudohypoparathyroidism 1a associated with resistance (TSH) was established.</p><p><strong>Conclusion: </strong>Children diagnosed with PHP 1a should be further evaluated for associated resistance endocrinopathies. The literature on pseudohypoparathyroidism is reviewed with special emphasis on the misdiagnosis with congenital hypothyroidism.</p>","PeriodicalId":18421,"journal":{"name":"Medicinski arhiv","volume":"77 1","pages":"70-73"},"PeriodicalIF":0.0000,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/fd/e3/medarch-77-70.PMC10010685.pdf","citationCount":"0","resultStr":"{\"title\":\"Infant With Pseudohypoparathyroidism Type 1a, Misdiagnosed as Congenital Hypothyroidism.\",\"authors\":\"Wessal Al Sakran, Mohammad Al-Qahtani, Mohammed Alkhalifa, Ali Alqahtani\",\"doi\":\"10.5455/medarh.2023.77.70-73\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Hypothyroidism is a manifestation of multi-hormonal resistance in pseudohypoparathyroidism type Ia (PHP Ia).</p><p><strong>Objective: </strong>The aim of this article was to present 9 months old male patient as case of congenital hypothyroidism.</p><p><strong>Case report: </strong>We describe a 9 months old male diagnosed with congenital hypothyroidism at age 1.5 month, who developed later (at age 5 months) cyanotic attack associated with hypocalcaemia, hyperphosphatemia, and hyperparathyroidism, patient had typical characters of AHO, so the diagnosis of Pseudohypoparathyroidism 1a associated with resistance (TSH) was established.</p><p><strong>Conclusion: </strong>Children diagnosed with PHP 1a should be further evaluated for associated resistance endocrinopathies. The literature on pseudohypoparathyroidism is reviewed with special emphasis on the misdiagnosis with congenital hypothyroidism.</p>\",\"PeriodicalId\":18421,\"journal\":{\"name\":\"Medicinski arhiv\",\"volume\":\"77 1\",\"pages\":\"70-73\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/fd/e3/medarch-77-70.PMC10010685.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Medicinski arhiv\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5455/medarh.2023.77.70-73\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medicinski arhiv","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5455/medarh.2023.77.70-73","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"Medicine","Score":null,"Total":0}
Infant With Pseudohypoparathyroidism Type 1a, Misdiagnosed as Congenital Hypothyroidism.
Background: Hypothyroidism is a manifestation of multi-hormonal resistance in pseudohypoparathyroidism type Ia (PHP Ia).
Objective: The aim of this article was to present 9 months old male patient as case of congenital hypothyroidism.
Case report: We describe a 9 months old male diagnosed with congenital hypothyroidism at age 1.5 month, who developed later (at age 5 months) cyanotic attack associated with hypocalcaemia, hyperphosphatemia, and hyperparathyroidism, patient had typical characters of AHO, so the diagnosis of Pseudohypoparathyroidism 1a associated with resistance (TSH) was established.
Conclusion: Children diagnosed with PHP 1a should be further evaluated for associated resistance endocrinopathies. The literature on pseudohypoparathyroidism is reviewed with special emphasis on the misdiagnosis with congenital hypothyroidism.