Imaging of Ambiguous Genitalia: Classification and Diagnostic Approach

Abstract

Disorders of sex development (DSDs) are congenital conditions in which the development of chromosomal, gonadal, or anatomic sex is atypical. DSDs can be classified broadly into four categories on the basis of gonadal histologic features: female pseudohermaphroditism (46,XX with two ovaries); male pseudohermaphroditism (46,XY with two testes); true hermaphroditism (ovotesticular DSD) (both ovarian and testicular tissues); and gonadal dysgenesis, either mixed (a testis and a streak gonad) or pure (bilateral streak gonads). Imaging plays an important role in demonstrating the anatomy and associated anomalies. Ultrasonography is the primary modality for demonstrating internal organs; genitography is used to assess the urethra, vagina, and any fistulas or complex tracts; and magnetic resonance imaging is used as an adjunct modality to assess for internal gonads and genitalia. Early and appropriate gender assignment is necessary for healthy physical and psychologic development of children with ambiguous genitalia. Gender assignment can be facilitated with a team approach that involves a pediatric endocrinologist, geneticist, urologist, psychiatrist, social worker, neonatologist, nurse, and radiologist, allowing timely diagnosis and proper management.

Two Cases of Successful Laparoscopic Hernia Repair and Repositioning of the Testes into the Abdominal Cavity in Pediatric Patients with Androgen Insensitivity Syndrome

“…The possibility of ovarian IH is highly likely in patients aged under 2 years [8]. A previous study reported the use of ultrasonography to distinguish the testes from ovaries [13]. In my experience, a herniated ovary appears as a hypoechoic lesion, while the testes appear more echogenic than the ovaries by ultrasonography.…”

A Case of Persistent Urogenital Sinus: Pitfalls and challenges in diagnosis

“…In such instances, an ascending genitogram may constitute a better imaging modality since it can clearly delineate the length of the common channel and the level of vaginal confluence. 14 However, it is important to place the tip of the catheter just above the perineal opening as there is a risk of either the bladder or vagina alone being opacified if the catheter penetrates too deeply. In addition, an ascending genitogram may help the surgeon to choose a suitable approach and method of surgical repair.…”

“…In addition, an ascending genitogram may help the surgeon to choose a suitable approach and method of surgical repair. 14 Besides conventional imaging methods, the use of MRI has gained popularity in the paediatric field over the last decade due to advances in resolution, reduced motion artefacts, volumetric imaging and imaging time. 15 An MRI scan of the pelvis can effectively depict the relationship between urogenital structures, the pelvic muscle complex and any associated spinal or renal abnormalities.…”

Role of magnetic resonance imaging in assigning sex in an ambiguous genitalia child: a case report

“…Uterus and ovaries can relatively be easily identified when are under maternal hormones influence during the neonatal period (1,3,6,7) . During pregnancy, ultrasound assessment of fetal sex is recommended only when medically specified and in twin situation 8 .…”