Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype–genotype correlation
Authors' conclusion
We report three new cases of LCAH from India. We propose a phenotype-derived genotypic classification of reported STAR variants in 46,XY LCAH.
Study context
- Population
- Patients with lipoid congenital adrenal hyperplasia (LCAH) due to STAR mutations: 3 genetically proven patients from the authors' centre (India) and 292 probands from a systematic reviewprobands in review
- Participants
- 292 patients
- Comparison
- 46,XY phenotypic subgroups: Group A vs Group B vs Group C
- Group An = 55
- Group Bn = 9
- Group Cn = 8reference
- Outcome
- Mineralocorticoid involvement in 46,XY LCAH
Methodological detailsretrospective, per-patient data analysis
- Retrospective
- Per-patient data analysis
Pooled result
As reported in the abstract
P = 0.035
- Group A diagnosed in infancy
- 116/117
- 46,XY to 46,XX LCAH ratio
- 1.1 (155:140)
Further pooled results
Own centre cases
- Three new LCAH probands from India, all diagnosed post-infancy with preserved gonadal function and one novel variant
Adrenal morphology
- Hyperplastic adrenals in LCAH diagnosed with primary AI in infancy
- ≈60%
Gonadal neoplasia
- No report of gonadal germ cell cancer; rare germ cell neoplasia in situ in adolescents, especially with intraabdominal gonads
Ethnicity and variants
- LCAH probands East-Asian
- Two-thirds
- Regional recurrent variants from East Asia
- 11/16
- Minimal overlap between variants in Groups A, B and C
- All nonsense and frameshift and most splice-site variants and deletion/insertions in Group A
Original publication
Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype–genotype correlation. Clin Endocrinol (Oxf). Published 18 February 2024. doi:10.
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