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

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 2017 to 2020. Ultrasound findings of the uterus and ovaries of 22 female infants (2-60 days of age) with CAH due to 21-hydroxylase deficiency and 47 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 (95%). In the case group, only 9 (41%) infants had a normal prominent cervix, and other 13 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=0.009). The 77% patients had no follicles in both ovaries, while 28% 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=0.004). 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.