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

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...

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Bibliographic Details
Published in:Journal of ultrasound 2022-09, Vol.25 (3), p.745-755
Main Authors: Hosokawa, Takahiro, Tanami, Yutaka, Sato, Yumiko, Hosokawa, Mayumi, Oguma, Eiji
Format: Article
Language:English
Subjects:
Differences of sex development
Disorders
Evaluation
Females
Gonads
Males
Medicine
Medicine & Public Health
Pictorial
Pictorial Essay
Sex
Ultrasonic imaging
Ultrasound
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Summary: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.
ISSN:1876-7931
1971-3495
1876-7931
DOI:10.1007/s40477-021-00632-5