Ultrasonographic Changes of the Uterus and Ovaries in Female Infants with Congenital Adrenal Hyperplasia: Pseudo-Testicular Sign

Publish Year: 1400
نوع سند: مقاله ژورنالی
زبان: English
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JR_IRJN-12-2_005

تاریخ نمایه سازی: 18 اردیبهشت 1400

Abstract:

Background: Congenital Adrenal Hyperplasia (CAH) is one of the main causes of ambiguous genitalia. The unusual appearance of internal genitalia in CAH patients is similar to many other conditions which are classified in Disorders of Sex Development (DSD). This study aimed to accurately describe diagnostic ultrasonic features of the uterus and ovaries in CAH patients in order to distinguish it from other causes of ambiguous genitalia. Methods: This cross-sectional study was performed in Akbar Children Hospital, Mashhad University of Medical Sciences, Mashhad, Iran, from ۲۰۱۷ to ۲۰۲۰. Ultrasound findings of the uterus and ovaries of ۲۲ female infants (۲-۶۰ days of age) with CAH due to ۲۱-hydroxylase deficiency and ۴۷ healthy infants with a similar age were recorded and eventually analyzed in this study. Results: All the healthy infants in the control group had a normal prominent cervix, except for two neonates (۹۵%). In the case group, only ۹ (۴۱%) infants had a normal prominent cervix, and other ۱۳ newborns had nearly equal sizes of fundus and cervix. There was a significant difference between the two groups in the fundus-to-cervix ratio (P=۰.۰۰۹). The ۷۷% patients had no follicles in both ovaries, while ۲۸% healthy infants in the control group had no follicles, and the rest had unilateral or bilateral multi-follicular ovaries. After two months following treatment, bilateral multi-follicular ovaries were observed in all patients. The sign of non-follicular ovaries (pseudo-testicular appearance) was significantly more prevalent in the case group (P=۰.۰۰۴). Furthermore, half of infants showed normal pelvic lymph node that mimic a testicular-like appearance due to its uniform hyper-echoic texture. Conclusion: The testicular-like appearance of normal pelvic lymph nodes and non-follicular ovaries in a female infant with CAH. Attention to these usual findings can prevent misdiagnoses of cryptorchidism and time loss to perform other laboratory tests and karyotyping.    

Keywords:

Congenital Adrenal Hyperplasia , Disorders of Sex Development , Ovary , Ultrasound

Authors

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Radiology Department, Akbar Children Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

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Radiology Department, Akbar Children Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

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Radiology Department, Akbar Children Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

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Endocrine Department, Akbar Children Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

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Endocrine Department, Akbar Children Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

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