Disorders of sex development are rare anomalies that should be examined by specialists in this field. The treatment plan should be made by evaluating each patient individually in councils where the pediatric endocrinologist, pediatric surgeon, child psychiatrist, and medical geneticist come together. Various surgical interventions are also needed in this process. Removal of gonads due to the risk of malignancy in DSD patients with a Y chromosome is also included in these surgical interventions [5].
Bilateral gonadectomy operation, performed with diagnostic laparotomy in the past, can now be performed laparoscopically with the developments in minimally invasive surgery. Among the first examples of the use of laparoscopy in this area are the nonpalpable testicular surgery presented by Kortesi et al. in 1976, followed by laparoscopic gonadal biopsy from 46, XY DSD patients by Portuondo et al. in 1986 [6, 7]. The first laparoscopic gonadectomy for streaked gonad was performed in 1990 by Droesch et al. in the literature [8].
In DSD patients, locating the nonpalpable gonads and taking a biopsy of the gonad and gonadectomy operations are performed laparoscopically. Laparoscopy has many advantages, such as providing an excellent visual environment in examining the pelvic organs, low risk of scarring, short hospital stays, and rapid recovery in the postoperative period. In addition, the low need for analgesics, low scar risk, and early recovery significantly reduce surgical stress for patients with sexual development disorders who may have severe psychosocial problems.
In our study, the average operation time was calculated as 33 ± 2 (25–64) minutes. Whereas, Morita et al. measured total operation times as 215 minutes in the laparotomy group and 216 minutes in the laparoscopy group [9]. We attribute the shorter duration of the surgeries in our series to our experience in laparoscopy and to the fact that procedures such as genitoplasty, performed simultaneously in other studies, were not applied in the same session in our series. In studies carried in 1990's gonadectomy with laparotomy and laparoscopic gonadectomy are compared but in 2020's laparoscopic gonadectomy has became the golden standard. The operation time has become much more shorter with nearly zero complications.
In countries where consanguineous marriages are common, mutations are found relatively more frequently than in other societies. Among our study group, there was second-degree consanguinity in four, third-degree in one patient of fourteen patients.
Determining the most appropriate time for a gonadectomy operation varies depending on the underlying etiological factor. Among 46,XY DSD patients with the Y chromosome, the highest risk for malignancy was found in gonadal dysgenesis; conditions with a partially low risk of malignancy include complete androgen insensitivity syndrome, ovotestis, and persistent Mullerian duct syndromes [4]. Due to the low risk of malignancy in complete androgen insensitivity syndrome, publications suggest that the gonads should be preserved until puberty and that the need for hormone replacement should be delayed. Studies have suggested that the gonads should be fixed at the port sites after the diagnosis is confirmed by diagnostic laparoscopy and biopsy, thus facilitating their follow-up with USG until puberty [10]. In our study, we have four cases diagnosed with androgen receptor mutation. The presenting symptom in these patients is amenorrhea and the detection of testicular tissue in previous inguinal hernia surgery. The average age of operation in this group is 15.7 years. After laparoscopic gonadectomy, patients were placed on estrogen replacement therapy.
We think that our physician's and families' awareness should be increased to diagnose gonadal dysgenesis patients at high risk for malignancy and for whom gonadectomy is recommended in the early childhood period and to perform their operations. In order to prevent delays in diagnosis, information brochures containing diseases under the heading of sexual developmental defects and physical examination findings can be prepared, starting from primary healthcare institutions, and it can be facilitated for patients to reach specialist healthcare teams.
Esposito et al. conducted a multicenter survey, compromising six European countries, on malignancy risk and the need for surgery in these pediatric patients [11]. Among the eighteen patients in their study, ten patients were complete androgen receptor insensitivity (Morris syndrome), and eight were Turner syndrome carrying Y chromosome. A malignant tumor was not detected in their series. Therefore, they re-evaluated the indication for gonadectomy. However, among our specimens, one gonadoblastoma was discovered. Therefore, our malign tumor discovery rate was 1/14 (7.14%), which reiterates the necessity for gonadectomy.
In 2016 Calvo et al. did a metaanalysis on laparoscopic gonadectomy. Their literature review detected 15 gonadoblastomas, seven dysgerminomas, and two seminomas among the 168 patients [12]. The number of our patients is significantly high and will contribute to the literature since gonadal surgical diseases are rare and seen in a only a few multidisciplinary centers. In our study, the complication rate was zero; this is compatible with the literature. Umbilical port infection and pelvic abscess, although rare, are the most common complications reported in the literature, and none of our patients experienced these complications [12, 13].
The most important limitation of our study is that it is from a single center. Therefore, multicenter surveys should be conducted for this relatively rare anomaly group in the community, and thus, guiding protocols should be established in diagnosis, follow-up, and surgical treatment.