We acknowledge that gonadal management of DSD patients, like many other DSD-related issues, is controversial. Bilateral gonadectomy in children with DSD conditions with known high germ cell cancer (GCC) risk is indeed a safe option, but at a significant price in terms of need for puberty induction and subsequent hormone replacement therapy, and definite loss of fertility. For patient and parent counseling procedures it is regrettable that reliable figures on gonadal GCC risk in many DSD conditions are either lacking or at best roughly known. Especially in rare DSD conditions, like the WT-1 mutations linked to Frasier and DenyseDrash syndromes, reported incidence rates on gonadal malignancy are based on a limited number of case studies. This, together with assumed publication bias which is inherent to case reports, and inconsistent or unverified patient classification has led that reported figures on gonadal GCC risk in rare DSD conditions are inaccurate and hazardous for individual patient management purposes.
As individual patient care cannot be postponed until global knowledge level has improved, we propose a semi-quantitative approach, in which DSD patients are stratified into four categories according to their putative gonadal GCC risk level: high, intermediate, equal to the general population and unknown. We admit that this classification is provisional, though reflective of the present knowledge on gonadal GCC risk in the various DSD subgroups.
We would like to reiterate that all streaklike gonads of the DSD population at risk, like in patients with mosaic Turner syndrome harboring Y-chromosomal material, should be removed. Concerning all other, non-streaklike gonads at risk: our proposal, namely to bring these gonads to an extra-abdominal (inguinal or preferably scrotal) position allowing monitoring by self-examination and imaging, is in our view a valid alternative to immediate gonadectomy. Taking representative biopsies during this repositioning procedure is mandatory for a thorough histopathological examination, of which the results will be crucial for future gonadal management: retention or gonadectomy. While postponement or even abrogation of gonadectomy is by definition creating some uncertainty, it has undeniable advantages like spontaneous pubertal development, endogenous sex hormone supply, involvement of the patient self in decision making, and possibly even fertility preservation.
Let us strive to fill the knowledge gaps in the field of gonadal malignancy risk by global collaboration in preferentially prospective studies, thereby increasing the level of evidence of our treatment protocols and improving the quality of life for patients with DSD.

doi.org/10.1016/j.jpurol.2017.01.002, hdl.handle.net/1765/95827
Journal of Pediatric Urology

Wolffenbuttel, K., & Looijenga, L. (2017). Response to commentary to 'Gonadal dysgenesis in disorders of sex development (DSD): Diagnosis and surgical management'. Journal of Pediatric Urology. doi:10.1016/j.jpurol.2017.01.002