Beyond PCOS: An Unusual Presentation of Type A Insulin Resistance Syndrome.

IF 1.8 4区医学 Q3 OBSTETRICS & GYNECOLOGY

Journal of pediatric and adolescent gynecology Pub Date : 2025-09-27 DOI:10.1016/j.jpag.2025.09.013

Maja Cehic, Tatjana Milenkovic, Sladjana Todorovic, Katarina Mitrovic, Sanja Panic Zaric, Dimitrije Cvetkovic, Rade Vukovic

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引用次数: 0

Abstract

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.

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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。

背景：胰岛素抵抗（Insulin resistance， IR）常见于青春期多囊卵巢综合征（PCOS）。然而，在非肥胖的青春期女孩中，严重的IR伴多囊卵巢应引起对典型多囊卵巢综合征以外原因的怀疑。病例：一名16岁体重正常的女孩，表现为多尿、多饮、月经不规律、多毛、黑棘皮症。她的临床表现，实验室结果和超声检查提示严重的多囊卵巢综合征合并2型糖尿病，但明显的IR程度促使进一步的调查。基因检测发现了INSR基因的杂合缺失，证实了a型胰岛素抵抗综合征（TAIRS）。摘要：本病例强调了考虑遗传性胰岛素受体异常在非典型PCOS表现中的重要性，特别是在患有严重IR的非肥胖青少年中。早期识别对于适当的管理和遗传咨询至关重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of pediatric and adolescent gynecology 医学-妇产科学

CiteScore

3.90

自引率

11.10%

发文量

251

审稿时长

57 days

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.