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Войти в исследования Journal of pediatric and adolescent gynecology · 2025
Beyond PCOS: An Unusual Presentation of Type A Insulin Resistance Syndrome.
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Cehic Maja, Milenkovic Tatjana, Todorovic Sladjana, Mitrovic Katarina, Zaric Sanja Panic, Cvetkovic Dimitrije, Vukovic Rade
Аннотация
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.
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.