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Abstract：
The extent, severity, and radiological findings of ovarian growth in infants with genetic syndromes of insulin resistance have not been fully described. We report a rare case of reversible massive ovarian enlargement in a female infant with a congenital insulin resistance syndrome, likely Rabson-Mendenhall syndrome given the less clinically severe course. The patient presented with neonatal diabetes with hyperinsulinemia and hyperglycemia due to congenital insulin resistance. She developed increasing severe bilateral ovarian enlargement which peaked at 4 months of age, followed by gradual decrease in size of the ovaries following treatment with insulin-sensitizing drugs and improved hyperinsulinemia. The ovarian enlargement is postulated to be secondary to the trophic effects of insulin acting in a gonadotropin-independent mechanism. Hyperinsulinemia in congenital insulin resistance can also result in hypertrophy of other organs. Understanding the pathophysiology behind massive ovarian enlargement in the setting of congenital insulin resistance syndromes can help guide appropriate therapy.
摘要：
程度,严重程度,和放射学发现的婴儿卵巢生长的遗传综合征的胰岛素抵抗尚未得到充分描述。我们报道了一例罕见的先天性胰岛素抵抗综合征女婴可逆性卵巢大量增大的病例。考虑到临床上较不严重的病程，可能是Rabson-Mendenhall综合征。该患者因先天性胰岛素抵抗而出现新生儿糖尿病并伴有高胰岛素血症和高血糖。她出现了严重的双侧卵巢增大，在4个月大时达到顶峰，随后，在使用胰岛素增敏药物治疗后，卵巢大小逐渐减小，高胰岛素血症得到改善。据推测，卵巢增大是胰岛素以不依赖促性腺激素的机制起作用的营养作用所致。先天性胰岛素抵抗中的高胰岛素血症也可导致其他器官的肥大。了解先天性胰岛素抵抗综合征背景下卵巢大量增大背后的病理生理学可以帮助指导适当的治疗。
