State of the art review in gonadal dysgenesis: challenges in diagnosis and management

Abstract

Gonadal dysgenesis, a condition in which gonadal development is interrupted leading to gonadal dysfunction, is a unique subset of disorders of sexual development (DSD) that encompasses a wide spectrum of phenotypes ranging from normally virilized males to slightly undervirilized males, ambiguous phenotype, and normal phenotypic females. It presents specific challenges in diagnostic work-up and management. In XY gonadal dysgenesis, the presence of a Y chromosome or Y-chromosome material renders the patient at increased risk for developing gonadal malignancy. No universally accepted guidelines exist for identifying the risk of developing a malignancy or for determining either the timing or necessity of performing a gonadectomy in patients with XY gonadal dysgenesis. Our goal was to evaluate the literature and develop evidence-based medicine guidelines with respect to the diagnostic work-up and management of patients with XY gonadal dysgenesis. We reviewed the published literature and used the Grading of Recommendation, Assessment, Development, and Evaluation (GRADE) system when appropriate to grade the evidence and to provide recommendations for the diagnostic work-up, malignancy risk stratification, timing or necessity of gonadectomy, role of gonadal biopsy, and ethical considerations for performing a gonadectomy. Individualized health care is needed for patients with XY gonadal dysgenesis, and the decisions regarding gonadectomy should be tailored to each patient based on the underlying diagnosis and risk of malignancy. Our recommendations, based on the evidence available, add an important component to the diagnostic and management armament of physicians who treat patients with these conditions.

Molecular Detection and Incidence of Y Chromosomal Material in Patients with Turner Syndrome

“…Thus, gonadectomy could be postponed in patients who are reluctant to have surgery. This recommendation should be taken with caution, as other studies have shown higher rates of malignancy in such patients, and there are no established guidelines for monitoring them for development of malignancy if they choose not to undergo gonadectomy [McCann-Crosby et al, 2014].…”

Recurrent Unilateral Gonadoblastoma - A rare histopathological presentation

“…The incidence of yolk sac elements with gonadoblastoma is found to be 10% of all the cases of malignant germ cell tumours associated with gonadoblastoma [5]. Gelincik et al [7] described one case of bilateral gonadoblastoma coexistent with dysgerminoma on one side and dysgerminoma and yolk sac tumour on the other side in a 10 year old girl with 46XX karyotype.…”

“…Only 2 cases of gonadoblastoma have been reported in normal male patients with scrotal testicles [5]. Gonadoblastoma coexistent with yolk sac tumour has been reported in a patient having female phenotype [6].…”

Endoscopy and Laparoscopy in Disorders of Sex Development

“…We found gonadoblastoma in all our patients when the shape of the gonad deviated from the expected streak-like shape . Gonadoblastoma is not a malignant tumor, but progression to dysgerminoma occurs at a high rate [McCann-Crosby et al, 2014].…”