True hermaphroditism: A nightmare for an adult

Abstract

The disorder of sex development is a rare disorder that usually occurs in early childhood. As adults, those with disorder of sexual development present with gynecomastia, primary amenorrhea, and primary infertility, which often causes great psychological impact. We report a unique case of a male adult hermaphrodite presenting with hematometra and hematosalpinx. Early management including psychiatry counseling, gender reassignment, and surgery is essential. Our patient underwent müllerian tissue removal with phallus reconstruction.

1. Introduction

Hermaphroditism is a rare sexual disorder. True hermaphrodites have both testicular and ovarian tissues. The patient may present with one ovary and one testis, or more commonly, one or two ovotestes.^[1] Hermaphroditism usually presents in early childhood as ambiguous genitalia, although presentation in early adulthood is also possible. Late diagnosis of true hermaphrodites may lead to severe psychological impact; thus, early detection and treatment are preferred.^[2] In this case report, we described a 19-year-old man with abdominal pain and a mass secondary to hematometra and hematosalpinx that were not previously detected.

2. Case report

A 19-year-old man, with no left testis since birth, presented with lower abdominal pain. No surgical procedures have been performed in the past. On examination, there was a firm, nontender mass in the hypogastric region, measuring 4 × 5 × 3 cm. The left testis was absent, and the right testis and scrotum were normal in size. Tanner stage IV gynecomastia was present. Phallus examination revealed perineal hypospadias with a good urethral plate and severe chordee (Figs. 1 and 2).

Figure 1.

Tanner stage IV gynecomastia.

Figure 2.

Penoscrotal hypospadias.

All routine examination results were normal. The serum testosterone level was 0.2, and the serum follicle-stimulating hormone level was 2.03. Karyotyping was 46 XX. Magnetic resonance imaging revealed a uterus with hematometra, a cervix with an ectodermal vagina, and an obliterated endodermal vagina. A rudimentary ectodermal vagina opened into the urethra (Figs. 3 and 4). The genitogram showed an obliterated endodermal vagina with a patent ectodermal vagina (Fig. 5).

Figure 3.

MRI showing hematometra and hematosalpinx. MRI = magnetic resonance imaging.

Figure 4.

MRI showing the ectodermal vagina and urethra. MRI = magnetic resonance imaging.

Figure 5.

Genitogram showing the ectodermal and obliterated endodermal vagina.

Following psychiatric evaluation, counseling, and discussion with the patient and his parents, the patient's decision was to continue as a man because of the predominant male phenotype. The patient underwent exploratory laparotomy with hysterectomy, left salpingo-oophorectomy, and vaginectomy to preserve the right lateral wall of the vagina containing the right vas deferens (Figs. 6 and 7). The patient underwent the first stage of hypospadias repair and is waiting to proceed with the second stage.

Figure 6.

Intraoperative picture showing the vas deference and the vaginal wall.

Figure 7.

Postoperative specimen showing the uterus, right adnexa, and vagina (ectodermal and obliterated endodermal).

3. Discussion

Disorder of sexual development (DSD) is a rare disorder with an incidence of 1:4500 to 1:5000, of which true hermaphrodites are responsible for 4% to 10% of cases.^[1,3] The term comes from the Greek god Hermaphroditos, who had both male and female organs.^[4] Most cases (90%) present with ambiguous genitalia at birth, including microphallus, hypospadias, urogenital sinus, fusion of the penoscrotal labia, or cryptorchidism.^[2] Individuals who present with even the slightest ambiguity in their external genitalia, or unilateral or bilateral undescended testicles, should be investigated.^[5] Patients may also present with gynecomastia, cyclical groin or scrotal pain, hematuria, primary amenorrhea, and infertility during adolescence or adulthood.^[1]

Our patient presented to us with a painful lower abdominal mass, which on evaluation was found to be secondary to hematometra and hematosalpinx. To the best of our knowledge, this unique presentation has not been previously reported.

The size of the phallus and the patient's gender orientation determined the choice of future rearing.^[6] Taking into account our patient's penis size and male sexual orientation, all müllerian tissues were removed. The psychological impact of sudden gender reorientation detected after genetic analysis is a nightmare for adult patients. Genetic studies have shown Yq microdeletions on c but not on a and b, so the patient can father a child using assisted reproductive techniques. If the female sex was assigned, then all testicular and Wolffian tissues should be removed as there is potential for fertility.^[7] Gonadoblastoma and dysgerminoma are found in 3% of 46 XY DSD cases and rarely in 46 XX DSD cases.^[8] Therefore, our patient required long-term gonadal surveillance via ultrasonography.

4. Conclusions

Hermaphrodite should be considered as a differential diagnosis in all cases of ambiguous genitalia. Early detection and surgical management of a patient presenting with complications, such as hematometra and hematosalpinx, are essential. Future fertility depends on the presence of the SRY gene and azoospermia factors. Long-term surveillance and follow-up are needed for the early identification of gonadal tumors.

Conflict of interest statement

No conflict of interest has been declared by the authors.