A rare case of ovotesticular DSD (true hermaphroditism)

A 38-year-old individual came with complaints of left iliac fossa pain for 15 days and was found to have ambiguous external genitalia during examination. The patient identified as male. However, there was a history of menarche at 14 years of age.

On physical examination, there was clitoromegaly with no palpable gonads present in either labioscrotal region. A palpable mass in the right inguinal region was found. Mild breast development seen.

Hormone levels revealed normal male range of testosterone and oestradiol with raised luteinising hormone and follicle-stimulating hormone. Karyotyping showed XY genotype.

Transabdominal ultrasonography revealed a bulky uterus with blurring of the endomyometrial junction with few cystic spaces in the anterior myometrium. In the left adnexa, a dilated tubulocystic structure was seen with incomplete internal septations. In the right inguinal region, encysted fluid was seen in the right inguinal canal extending up to the labia majora on the right side, which is suggestive of hydrocele of the canal of Nuck.

Examination of the adnexa (Figures 1a, 1b, 1c, 1d and 1e) revealed well-circumscribed heterogeneously hypoechoic structures with an ovoid portion containing few focal cystic spaces (possibly follicles) and the non-ovoid portion, which was devoid of such cystic spaces (possibly testicular portion).

MR examination (Figures 2a, 2b, 2c and 2d) revealed a bulky uterus with widening of the anterior junctional zone and multiple T2 hyperintense myometrial cystic spaces. An encysted T2 hyperintense fluid collection was seen in the right inguinal canal. On T2WI, the adnexa revealed well-circumscribed structures with an ovoid portion having T2 hyperintense cysts (ovarian part) and a T2 hyperintense testicular portion devoid of cysts—possibly suggestive of ovotestes. Left-sided haematosalpinx was seen.

Background

Disorders of sexual development (DSD) is a rare occurrence with an incidence of 1.8 per 10000 live births [1]. The rarest among these is ovotesticular DSD, formerly known as “true hermaphroditism”. This phenomenon is said to occur when there is both ovarian and testicular tissue within the same individual [2]. According to reports, the frequency is fewer than 1 in 20,000 live births, with only about 500 affected people identified to date [3,4].

Clinical Perspective

The primary complaint in this set of individuals tends to be ambiguous genitalia, most presenting early in life [4]. The management of a person with true hermaphroditism proves to be a complex journey requiring the participation of multiple specialities with both medical and surgical interventions and also keeping in mind the psyche of the person, who needs proper attention and counselling [4].

Imaging Perspective

Radiologic examinations are quintessential for further management of DSD cases, following clinical examinations. US proves to be the initial modality in evaluating patients with ambiguous genitalia. For a more detailed examination of the internal anatomy and localisation of the non-palpable gonads, there is employment of genitography and MRI can be employed. In selected cases, endoscopy and/or diagnostic laparoscopy may be needed in addition to radiologic imaging. MRI can characterise the internal genitalia of our patient with its superior soft tissue contrast and cross-sectional capabilities, aiding in the localisation and detailed study of the morphology.

Outcome

A multidisciplinary mode of management with the inclusion of surgical, medical and psychological interventions is the established yardstick. Due to the late presentation, surgical reassignment in our case was rather redundant, with medical and gynaecological interventions for the presenting complaint of abdominal pain taking the forefront, and, along with that, a proper psychological counselling schedule was suggested.

Take Home Message

Disorders of sexual development consist of a myriad of complex disorders with a varying combination of genotypic and phenotypic aberrations. Among them, ovotesticular DSD is the rarest one. Our case is that of ovotesticular DSD, which presented clinically with phenotypically ambiguous genitalia and a perceived gender of a male with a wide array of imaging findings. Early and accurate detection and timely interventions will go a long way in alleviating such individuals.