CASE 18659 Published on 19.08.2024

Ovotesticular disorder of sex development: A rare cause of gynecomastia

Section

Paediatric radiology

Case Type

Clinical Case

Authors

Shruti Chandak, Ankur Malhotra, Arjit Agarwal, Subhashree Dash, Danish Lalwani

Department of Radiology, Teerthanker Mahaveer Medical College & Research Centre, Moradabad, Uttar Pradesh, India

Patient

13 years, male

Categories
Area of Interest Genital / Reproductive system female, Genital / Reproductive system male, Paediatric ; Imaging Technique MR, Ultrasound
Clinical History

A 13-year-old patient, raised as a boy, presented with gynecomastia and left-sided groin pain. On examination, the left scrotal sac was empty, with tenderness in the left groin. Pubic and axillary hair were present, and external genitalia consisted of a penis with hypospadias (Figures 1b and c). Bilateral Tanner stage IV breasts were seen (Figure 1a). Testosterone levels were low (45ng/dl), with normal FSH (4.79mIU/ml) and LH (5.23mIU/ml) levels.

Imaging Findings

Ultrasonography revealed oval-shaped echogenic structures with internal vascularity and multiple cystic areas resembling ovarian follicles within the right scrotal sac (Figure 2a) measuring approx. 16.2x8.6 mm and in the region of the left superficial inguinal ring (Figure 2b) measuring approx. 30x15 mm, respectively—likely ovotestes. Bilateral seminal vesicles, a small prostate and a suspected Müllerian duct remnant (Figure 2c) were seen.

MRI confirmed bilateral ovotestes in the right scrotal sac (Figure 3a) and left inguinal canal (Figure 3b) extending to the left superficial inguinal ring. A tubular blind-ending structure measuring approx. 6.7 cm in length and diameter up to 7.5 mm was seen in the midline, posterior to the urinary bladder, urethra and anterior to rectosigmoid with cranial extent from the rectosigmoid junction and caudal extent till the lower border of pubic symphysis—likely a fluid-filled vagina (Figure 3c) and a hypoplastic uterus (Figure 3d). These structures were not well visualised on ultrasonography. There was no definite vaginal opening. A right-sided vas deferens measured approx. 5.4 mm in diameter (Figure 3e). The urethra, which could not be evaluated on ultrasonography, was well seen on MRI, and the urethral opening was seen under the surface of the penis (Figure 3f).

Discussion

Background

In disorders of sex development, there is congenital abnormal development of chromosomal, gonadal, or anatomic sex [1]. Patients with ovotesticular disorder of sex development (OT-DSD), which was previously called true hermaphroditism, have both functional ovarian and testicular tissue due to variations in spatiotemporal expression of genes driving gonadal differentiation. It is the rarest disorder of sex development and has a prevalence of less than 1/20,000. The coexistence of functional ovarian and testicular tissue can occur as ovotestes or as asymmetrically developed gonads [2–4].

Clinical Perspective

The karyotype usually determines the clinical features, with the most common karyotype being 46,XX, although, rarely, 46,XX/46,XY (chimerism) or 46,XY may also be seen [4–6].

Patients may either present with ambiguous genitalia at birth or with near-normal male external genitalia with or without associated hypospadias, cryptorchidism, and progressive breast enlargement in adolescence [7,8].

Due to the wide variety of phenotypic appearances, making a diagnosis of OT-DSD is very difficult in developing countries since the presence of palpable gonads at birth is considered a surrogate marker of genetic sex [8].

Imaging Perspective

Gender assignment is the most vital aspect in OT-DSD management, and imaging plays an undisputable role in the same by delineating the anatomy of internal genital tract and gonadal identification. Ultrasonography and MRI are the modalities of choice. Though ultrasonography is the screening study of choice for these patients, MRI, with its superior soft tissue contrast and multiplanar imaging, serves as a problem-solving modality, especially for the detection of internal gonads and to delineate the complex anatomy of the genitourinary structures. Genitogram may rarely be needed to outline the urogenital sinus and vagina (if present) and to recognise the urethral configuration. Some cases may require endoscopy and diagnostic laparoscopy apart from radiologic imaging since the identification of streak gonads is tremendously difficult by imaging [2,3,6].

On imaging, the OT-DSD patients may show ovotestis, which appears heterogeneous with mixed appearance of solid testis and ovary with follicles or ovary on one side and testis on the other or ovary or testis with ovotestis. In fact, ovotestis is the most common gonad found in these patients. Internal genitalia usually depend on adjacent gonad, that is, testis is accompanied by vas deferens and epididymis and ovary by fallopian tube. Müllerian duct remnants are also usually present, with some reports of uneventful pregnancies [4,6,8].

Outcome

Partial gonadectomy should be performed in adolescence to prevent the production of undesired hormones and not early in life because of unpredictable gender outcomes [4]. Due to the increased risk of germ-cell tumours, patients have to be followed up with a multidisciplinary team [5].

The importance of adequate psychosocial counselling and lifelong peer support for patients and their families cannot be over-emphasised for a fair psychosexual outcome and to alleviate body image and self-esteem issues in these patients [4].

Our patient preferred male gender assignment, having been brought up as male and having the presence of a near-normal penis. Surgical removal of bilateral breast tissue was done. Gonadectomy, surgical removal of Müllerian duct remnants, and surgery for hypospadias are under consideration. The patient is also undergoing regular psychotherapy and counselling. The extremely late presentation of our patient highlights not only the lack of awareness regarding the condition but the social stigma attached to sexual ambiguity as well.

Take Home Message

Our case is rare, even among the rarest OT-DSD, because of the late presentation and near-normal male genitalia. It also illustrates the crucial role of imaging in the diagnosis as well as the management of rare disorders of sexual development. Prompt early diagnosis of these patients is recommended so that the patient and their family have more freedom for gender reassignment, keeping in mind the psychological, social and financial constraints and liberties.

Written informed consent for publication from the patient and legal guardian has been obtained.

Differential Diagnosis List
Congenital adrenal hyperplasia
Ovotesticular disorder of sexual development (karyotype 46, XX)
Mixed gonadal dysgenesis
XX sex reversal syndrome
Final Diagnosis
Ovotesticular disorder of sexual development (karyotype 46, XX)
Case information
URL: https://eurorad.org/case/18659
DOI: 10.35100/eurorad/case.18659
ISSN: 1563-4086
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