Diagnostic Accuracy of Serum Steroids and Peptides in the Evaluation of 46, XY Disorders of Sex Development (DSD)
Authors' conclusion
This study identifies FSH, stimulated T/A (> 1.6), ASI, and LH as key discriminatory markers for etiological diagnosis in 46, XY DSD, while suggesting that traditional cutoffs like stimulated T/DHT > 10 and T/A < 0.8 may have limited utility emphasizing the need for rapid genetic analysis.
Study context
- Population
- Genetically characterised 46, XY DSD; Gonadal dysgenesis (GD) = no pathogenic variant but mullerian structures; mini-pubertal, prepubertal and pubertal stages
- Participants
- 165 participants
- Comparison
- FSH vs hCG-stimulated androstenedione vs T/A ratio vs LH vs T/DHT vs androgen sensitivity index (ASI)
- Outcome
- Diagnostic accuracy of serum hormone levels across etiological subgroups
Methodological detailspost-hoc analysis of a prospective study
- Post-hoc analysis of a prospective study
Performance
As reported in the abstract
Diagnostic accuracy by etiology
| Test or model | Mini puberty AUC | Mini puberty sensitivity | Mini puberty specificity | Mini puberty cutoff | Prepuberty AUC | Prepuberty sensitivity | Prepuberty specificity | Prepuberty cutoff | Puberty AUC | Puberty sensitivity | Puberty specificity | Puberty cutoff | AUC | Cutoff | Sensitivity | Specificity | Sensitivity at cutoff 0.8 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FSH | 0.896 | 75% | 94.4% | 5.95 IU/L | 0.860 | 60% | 92.1% | 3.72 IU/L | 0.925 | 89.3% | 90.6% | 38.15 IU/L | |||||
| hCG-stimulated androstenedione | 0.929 | 0.53 ng/ml | 80% | 80% | |||||||||||||
| T/A ratio | 0.898 | 1.66 | 80% | 94.5% | 20% | ||||||||||||
| LH | 0.908 | 7.11 IU/L | 75% | 87.5% | |||||||||||||
| ASI | 0.972 | 95.27 | 93.8% | 93.3% |
Mini puberty AUC
FSH0.896
hCG-stimulated androstenedione— not stated in the abstract
T/A ratio— not stated in the abstract
LH— not stated in the abstract
ASI— not stated in the abstract
Mini puberty sensitivity
FSH75%
hCG-stimulated androstenedione— not stated in the abstract
T/A ratio— not stated in the abstract
LH— not stated in the abstract
ASI— not stated in the abstract
Mini puberty specificity
FSH94.4%
hCG-stimulated androstenedione— not stated in the abstract
T/A ratio— not stated in the abstract
LH— not stated in the abstract
ASI— not stated in the abstract
Mini puberty cutoff
FSH5.95 IU/L
hCG-stimulated androstenedione— not stated in the abstract
T/A ratio— not stated in the abstract
LH— not stated in the abstract
ASI— not stated in the abstract
Prepuberty AUC
FSH0.860
hCG-stimulated androstenedione— not stated in the abstract
T/A ratio— not stated in the abstract
LH— not stated in the abstract
ASI— not stated in the abstract
Prepuberty sensitivity
FSH60%
hCG-stimulated androstenedione— not stated in the abstract
T/A ratio— not stated in the abstract
LH— not stated in the abstract
ASI— not stated in the abstract
Prepuberty specificity
FSH92.1%
hCG-stimulated androstenedione— not stated in the abstract
T/A ratio— not stated in the abstract
LH— not stated in the abstract
ASI— not stated in the abstract
Prepuberty cutoff
FSH3.72 IU/L
hCG-stimulated androstenedione— not stated in the abstract
T/A ratio— not stated in the abstract
LH— not stated in the abstract
ASI— not stated in the abstract
Puberty AUC
FSH0.925
hCG-stimulated androstenedione— not stated in the abstract
T/A ratio— not stated in the abstract
LH— not stated in the abstract
ASI— not stated in the abstract
Puberty sensitivity
FSH89.3%
hCG-stimulated androstenedione— not stated in the abstract
T/A ratio— not stated in the abstract
LH— not stated in the abstract
ASI— not stated in the abstract
Puberty specificity
FSH90.6%
hCG-stimulated androstenedione— not stated in the abstract
T/A ratio— not stated in the abstract
LH— not stated in the abstract
ASI— not stated in the abstract
Puberty cutoff
FSH38.15 IU/L
hCG-stimulated androstenedione— not stated in the abstract
T/A ratio— not stated in the abstract
LH— not stated in the abstract
ASI— not stated in the abstract
AUC
FSH— not stated in the abstract
hCG-stimulated androstenedione0.929
T/A ratio0.898
LH0.908
ASI0.972
Cutoff
FSH— not stated in the abstract
hCG-stimulated androstenedione0.53 ng/ml
T/A ratio1.66
LH7.11 IU/L
ASI95.27
Sensitivity
FSH— not stated in the abstract
hCG-stimulated androstenedione80%
T/A ratio80%
LH75%
ASI93.8%
Specificity
FSH— not stated in the abstract
hCG-stimulated androstenedione80%
T/A ratio94.5%
LH87.5%
ASI93.3%
Sensitivity at cutoff 0.8
FSH— not stated in the abstract
hCG-stimulated androstenedione— not stated in the abstract
T/A ratio20%
LH— not stated in the abstract
ASI— not stated in the abstract
- Prepubertal T/DHT cutoff 10 specificity for SRD5A2
- 20%
Original publication
Diagnostic Accuracy of Serum Steroids and Peptides in the Evaluation of 46, XY Disorders of Sex Development (DSD). Clin Endocrinol (Oxf). Published 13 August 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →