Lillian Lai, Amir Mikhchi, Anna Ryabets-Lienhard, Mitchell E Geffner, Clement Cheung, Danielle Giuffre
Department of Radiology, Children's Hospital Los Angeles and University of Southern California, Keck School of Medicine, 4650 Sunset Blvd, Mailstop #81, Los Angeles, CA, USA.
Division of Endocrinology, Children's Hospital Los Angeles and University of Southern California, Keck School of Medicine, Los Angeles, CA, USA.
Radiol Case Rep. 2021 May 1;16(7):1760-1765. doi: 10.1016/j.radcr.2021.03.067. eCollection 2021 Jul.
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.
胰岛素抵抗遗传综合征患儿卵巢增大的范围、严重程度及影像学表现尚未得到充分描述。我们报告了一例患有先天性胰岛素抵抗综合征的女婴发生罕见的可逆性卵巢巨大肿大病例，鉴于临床病程不太严重，可能为拉布森 - 门登霍尔综合征。该患者因先天性胰岛素抵抗出现新生儿糖尿病伴高胰岛素血症和高血糖。她出现双侧卵巢进行性严重肿大，在4个月大时达到峰值，随后在使用胰岛素增敏药物治疗并改善高胰岛素血症后，卵巢大小逐渐减小。卵巢肿大被推测是由于胰岛素以不依赖促性腺激素的机制发挥营养作用所致。先天性胰岛素抵抗中的高胰岛素血症也可导致其他器官肥大。了解先天性胰岛素抵抗综合征背景下卵巢巨大肿大背后的病理生理学有助于指导适当的治疗。
