Side‐chain cleavage enzyme deficiency: Systematic review and case series
Authors' conclusion
SCCD-TMG is associated with four specific genotypes and distinct gonadal characteristics from SCCD-AG with overlapping features of PAI.
Study context
- Population
- Genetically proven P450 side-chain cleavage deficiency (SCCD) patients: 3 from authors' centre plus 52 probands from systematic review52 probands
- Participants
- 19 vs 15
- Comparison
- 46,XY SCCD-TMG vs SCCD-AG
- SCCD-TMGn = 19
- SCCD-AGn = 15reference
- Outcome
- Phenotypic and gonadal characteristics, 46,XY SCCD-TMG vs SCCD-AG
Methodological detailsretrospective review, per-patient data analysis
- Retrospective review
- Per-patient data analysis
Pooled result
As reported in the abstract
- More common in SCCD-TMG
- spontaneous puberty 9/9 vs. 0/3; P = 0.0045
- SCCD-TMG
- normal prepubertal gonadotropins 5/5 vs. 6/6; P = 0.002
- SCCD-TMG
- pubertal gonadotropins 2/9 vs. 0/3; P = 1
- More common in SCCD-TMG
- normal pubertal testosterone 9/11 vs. 0/3; P = 0.027
- Testicular adrenal rest tumours exclusive to SCCD-TMG
- 4
Further pooled results
Case series
- Two new Indian SCCD cases with three novel likely pathogenic variants; pubertal follow-up of a previously reported patient
46,XX SCCD with p.Glu314Lys/X-CHS
- Normal gonadotropins with spontaneous puberty
Original publication
Side‐chain cleavage enzyme deficiency: Systematic review and case series. Clin Endocrinol (Oxf). Published 17 November 2022. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →