Maja Cehic, Tatjana Milenkovic, Sladjana Todorovic, Katarina Mitrovic, Sanja Panic Zaric, Dimitrije Cvetkovic, Rade Vukovic
{"title":"超越多囊卵巢综合征：A型胰岛素抵抗综合征的不寻常表现。","authors":"Maja Cehic, Tatjana Milenkovic, Sladjana Todorovic, Katarina Mitrovic, Sanja Panic Zaric, Dimitrije Cvetkovic, Rade Vukovic","doi":"10.1016/j.jpag.2025.09.013","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Insulin resistance (IR) is commonly seen in adolescent polycystic ovary syndrome (PCOS). However, severe IR with polycystic ovaries in non-obese adolescent girls should prompt suspicion for causes other than typical PCOS.</p><p><strong>Case: </strong>A 16-year-old normal-weight girl presented with polyuria and polydipsia, along with irregular periods, hirsutism, and acanthosis nigricans. Her clinical presentation, laboratory results and ultrasound findings suggested severe PCOS with type 2 diabetes, but the pronounced degree of IR prompted further investigations. Genetic testing identified a heterozygous deletion in the INSR gene, confirming type A insulin resistance syndrome (TAIRS).</p><p><strong>Summary: </strong>This case highlights the importance of considering genetic insulin receptor abnormalities in atypical PCOS presentations, especially in non-obese adolescents with severe IR. Early recognition is crucial for appropriate management and genetic counselling.</p>","PeriodicalId":16708,"journal":{"name":"Journal of pediatric and adolescent gynecology","volume":" ","pages":""},"PeriodicalIF":1.8000,"publicationDate":"2025-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Beyond PCOS: An Unusual Presentation of Type A Insulin Resistance Syndrome.\",\"authors\":\"Maja Cehic, Tatjana Milenkovic, Sladjana Todorovic, Katarina Mitrovic, Sanja Panic Zaric, Dimitrije Cvetkovic, Rade Vukovic\",\"doi\":\"10.1016/j.jpag.2025.09.013\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Insulin resistance (IR) is commonly seen in adolescent polycystic ovary syndrome (PCOS). However, severe IR with polycystic ovaries in non-obese adolescent girls should prompt suspicion for causes other than typical PCOS.</p><p><strong>Case: </strong>A 16-year-old normal-weight girl presented with polyuria and polydipsia, along with irregular periods, hirsutism, and acanthosis nigricans. Her clinical presentation, laboratory results and ultrasound findings suggested severe PCOS with type 2 diabetes, but the pronounced degree of IR prompted further investigations. Genetic testing identified a heterozygous deletion in the INSR gene, confirming type A insulin resistance syndrome (TAIRS).</p><p><strong>Summary: </strong>This case highlights the importance of considering genetic insulin receptor abnormalities in atypical PCOS presentations, especially in non-obese adolescents with severe IR. Early recognition is crucial for appropriate management and genetic counselling.</p>\",\"PeriodicalId\":16708,\"journal\":{\"name\":\"Journal of pediatric and adolescent gynecology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.8000,\"publicationDate\":\"2025-09-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of pediatric and adolescent gynecology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1016/j.jpag.2025.09.013\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of pediatric and adolescent gynecology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.jpag.2025.09.013","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
Beyond PCOS: An Unusual Presentation of Type A Insulin Resistance Syndrome.
Background: Insulin resistance (IR) is commonly seen in adolescent polycystic ovary syndrome (PCOS). However, severe IR with polycystic ovaries in non-obese adolescent girls should prompt suspicion for causes other than typical PCOS.
Case: A 16-year-old normal-weight girl presented with polyuria and polydipsia, along with irregular periods, hirsutism, and acanthosis nigricans. Her clinical presentation, laboratory results and ultrasound findings suggested severe PCOS with type 2 diabetes, but the pronounced degree of IR prompted further investigations. Genetic testing identified a heterozygous deletion in the INSR gene, confirming type A insulin resistance syndrome (TAIRS).
Summary: This case highlights the importance of considering genetic insulin receptor abnormalities in atypical PCOS presentations, especially in non-obese adolescents with severe IR. Early recognition is crucial for appropriate management and genetic counselling.
期刊介绍：
Journal of Pediatric and Adolescent Gynecology includes all aspects of clinical and basic science research in pediatric and adolescent gynecology. The Journal draws on expertise from a variety of disciplines including pediatrics, obstetrics and gynecology, reproduction and gynecology, reproductive and pediatric endocrinology, genetics, and molecular biology.
The Journal of Pediatric and Adolescent Gynecology features original studies, review articles, book and literature reviews, letters to the editor, and communications in brief. It is an essential resource for the libraries of OB/GYN specialists, as well as pediatricians and primary care physicians.
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