Undetectable anti‐Mullerian hormone and inhibin B do not preclude the presence of germ cell tumours in 45,X/46,XY or 46,XY gonadal dysgenesis
Authors' conclusion
Undetectable serum AMH and inhibin B cannot reliably predict the absence of germ cells and germ cell tumours in individuals with 45,X/46,XY or 46,XY gonadal dysgenesis. This information should help in counselling about prophylactic gonadectomy, taking into account both the germ cell cancer risk and potential for gonadal function.
Study context
- Population
- Individuals with 45,X/46,XY or 46,XY gonadal dysgenesis who underwent bilateral gonadal biopsy and/or gonadectomy in 1999–2019, with preoperative anti-Müllerian hormone (AMH) and/or inhibin B available13 males · 16 females
- Participants
- 11 vs 18
- Exposure
- Undetectable vs detectable preoperative serum AMH and inhibin B
- Undetectable AMH and inhibin Bn = 11
- Detectable AMH and/or inhibin Bn = 18reference
- Outcome
- Whether undetectable preoperative serum AMH and inhibin B predict absence of germ cells, (pre)malignant or otherwise
Methodological detailshistological review by experienced pathologist, IHC for SOX9, OCT4, TSPY and SCF (KITL)
- Histological review by experienced pathologist
- IHC for SOX9, OCT4, TSPY and SCF (KITL)
Main finding
As reported in the abstract
Gonadoblastoma and/or dysgerminoma with undetectable AMH and inhibin B
3 of 11
Of these, also non-(pre)malignant germ cells
1
No germ cells with detectable AMH and/or inhibin B (of 18)
1
Observational data: associations, not effects.
Further findings
Histology of (pre)malignant lesions
- Females with dysgerminoma alongside gonadoblastoma
- 3
- Gonadoblastoma
- 2
- Germ cell neoplasia in situ (GCNIS)
- 1
- Males with pre-GCNIS and/or pre-gonadoblastoma
- 3
Karyotype
- 46,XY DSD
- 20
- 45,X/46,XY DSD
- 9
Original publication
Undetectable anti‐Mullerian hormone and inhibin B do not preclude the presence of germ cell tumours in 45,X/46,XY or 46,XY gonadal dysgenesis. Clin Endocrinol (Oxf). Published 22 March 2023. doi:10.
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