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Table 3 GRADE evaluation of literature for use of gonadal biopsy

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

Study Type of study Summary of findings Conclusions from each study regarding use of gonadal biopsy Design limitations
Farrugia, et al. 2013 [48] Observational Retrospective study Histology of 46 gonads from patients with 45,X/46,XY or 45,X/47,XYY PGD was reviewed. In patients raised as males, where dysgenetic testes are retained, biopsy at orchidopexy and also post-pubertal with immunohistochemical staining (OCT 3/4 and TSPY) is recommended Limited sample size, lack of blinding, lack of allocation concealment
Does not specify who had biopsy vs. gonadectomy.
No evidence of malignancy in any patient
Wunsch, et al. 2012 [33] Observational Cohort study 6 out of 12 patients with mixed or partial GD had biopsy to evaluate for malignancy (no gonadectomy). Biopsy can be used for early diagnosis of germ cell tumors and follow-up. Limited sample size, lack of blinding, lack of allocation concealment
1 patient found to have tubular in situ neoplasia.
Cools, et al. 2011 [36] Observational Study Histology of 87 gonads from patients with 45,X/46,XY was reviewed. For mildly undervirilized males, recommend 1 prepubertal biopsy and 1 post-pubertal biopsy. Limited sample size, lack of blinding, lack of allocation concealment
Biopsy was done in 15 patients.
All of the tumors in this series were in situ germ cell neoplastic lesions, discovered after prophylactic gonadectomy. In patients with ambiguous genitalia, biopsy can be used to asses tumor risk, but low threshold for gonadectomy
No tumors identifed in the patients who had gonadal biopsy alone.
Gourlay, et al. 1994 [42] Observational Retrospective Study Reviewed pathology from 21 patients with DSD who underwent bilateral gonadectomy at time of diagnosis. Gonadal biopsy is unreliable in excluding the presence of small tumors Limited sample size, lack of blinding, lack of allocation concealment
Pathology revealed many different combinations of testis, ovary, streak, and tumor within the same individual gonad.
Müller, et al. 1985 [49] Observational Study Gonadal tissue from multiple scrotal or labial gonadal biopsies was studied in 4 patients with 45,X/46,XY GD (ages 1 month to 18 years) Biopsy of scrotal gonads should be done at time of diagnosis of GD to exclude presence of tumor. Limited sample size, lack of blinding, lack of allocation concealment
All 4 patients had evidence of CIS:
-2 patients had CIS on initial biopsy In boys without signs of CIS on initial biopsy, repeat biopsy should be performed after puberty because prepubertal CIS lesions may be missed.
-2 patients had CIS only on repeat biopsy (8 months and 16 years)