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The role of ultrasound to evaluate the disorders of sex development: a pictorial essay

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Abstract

Ultrasonography is usually the first modality used to evaluate patients with disorders of sex development (DSD). To determine the sex in patients with DSD, the following four categories are carefully evaluated: chromosomal, gonadal, anatomical internal genitalia, and external genitalia. However, in the clinical setting, the only information that sonographers have prior to ultrasound examination is the appearance of the external genitalia. The following DSD presentations are commonly observed: (1) male external genitalia present at birth, without testis in the scrotum or with a small penis; (2) female external genitalia present at birth, with an inguinal hernia or clitoromegaly; (3) neonates with ambiguous genitalia at birth; and (4) female or male external genitalia without sexual maturity. In this retrospective study of several clinical cases, we demonstrated an ultrasound-based sex determination approach for these clinical presentations. We found that sonographers evaluated the external genitalia in relation to the distal urethra within the corpus spongiosum and corpus cavernosum and the presence or absence of follicles within the detected gonads to determine the sex of the patient.

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Acknowledgements

We would like to thank Editage (www.editage.com) for English language editing.

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Authors and Affiliations

  1. Department of Radiology, Saitama Children’s Medical Center, 1-2 Shintoshin Chuo-ku Saitama, Saitama, 330-8777, Japan

    Takahiro Hosokawa, Yutaka Tanami, Yumiko Sato & Eiji Oguma

  2. Department of Pediatrics, Saitama City Hospital, 2460 Mimuro Midori-Ku Saitama, Saitama, 336-8522, Japan

    Mayumi Hosokawa

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  1. Takahiro Hosokawa
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  2. Yutaka Tanami
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  3. Yumiko Sato
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  4. Mayumi Hosokawa
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  5. Eiji Oguma
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Correspondence to Takahiro Hosokawa.

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T. H, Y. T, Y. S, M. H, and E. O declare that they have no financial or personal relationships that could lead to a conflict of interest.

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This retrospective study was performed in accordance with the tenets of the Declaration of Helsinki. It was approved by the ethics committee of our institution, and informed consent was waived.

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Hosokawa, T., Tanami, Y., Sato, Y. et al. The role of ultrasound to evaluate the disorders of sex development: a pictorial essay. J Ultrasound 25, 745–755 (2022). https://doi.org/10.1007/s40477-021-00632-5

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  • DOI: https://doi.org/10.1007/s40477-021-00632-5

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