Imaging Techniques in the Diagnostic Journey of Disorders of Sex Development

Abstract

Various disorders of sex development (DSD) result in an abnormal development of genitalia that may be recognized at prenatal ultrasonography, immediately after birth, or later in life. Because of the complex nature of DSD, the participation of a multidisciplinary team, including imaging or radiology technologists, is required to address the patient's medical needs. The first steps in the management of DSD are sex evaluation, which is based on factors such as the genotype, the presence, location, and appearance of reproductive organs, the potential for fertility, and the cultural background and beliefs of the patient's family. It is also important to ensure the detection of comorbidity (as in syndromes) and to define the etiology of DSD in order to offer the best prognosis. Ultrasonography is the primary modality for demonstrating internal organs, genitography is used to assess the urethra, vagina, and any fistulas, and magnetic resonance imaging is used as an additional modality to assess internal gonads and genitalia. This review presents the advantages and disadvantages and the sensitivity and specificity for each type of radiological imaging to help in the evaluation of DSD cases before and after birth.

Role of Transperineal Ultrasound (TPUS) in Children with Ambiguous Genitalia

“…16 Radiological investigation comes next, and common investigations advocated in clinical practice are pelvic US for gonads, genitogram for lower urogenital tract anatomy, and MRI as an additional/problem-solving modality for both internal genital organs and gonads. 14,[17][18][19] MRI has been found to be very useful in demonstration of gonads, differentiation of phallus from the enlarged clitoris, and the presence of some complex anomalies. [20][21][22] However, its cost and requirement of sedation/anesthesia remain main points of consideration, especially when used in infants/small children.…”

Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021)

“…In the prepubertal adolescent, it may be difficult to confirm the presence of a uterus by ultrasonography and repeat imaging after a 6‐month course of oestrogen may be required. Although MRI seems to be used more often these days, in children, its use should be considered ancillary to ultrasound 58 and it should be reserved for cases where ultrasonography has failed to delineate the relationship of the Müllerian structures and where there are abnormalities of the urinary tract. High‐resolution MRI should include the pelvis and perineum with and without fat saturation and T1 in three planes where possible.…”

Disorders of Sex Development (DSD): Diagnostic Approach and Management in Infants and Children

“…Although the basic developmental events have long been known, the genetic, biochemical, endocrine, and molecular mechanisms are complex and have only been partially elucidated. Whereas surgical reconstruction of the genitalia has been widely applied in infants and children with DSD in the past, the growing understanding of the psychological and social implications of gender assignment has showed the paradigm away from early surgery in some affected patients [1][2][3][4][5][6][7][8][9][10][11][12]. The main focus of this article is to understand the various etiologies of DSD.…”