What question did this study set out to answer?

Identify the molecular, biochemical, and morphologic etiology in a patient initially diagnosed with partial androgen insensitivity syndrome in infancy.

January 1, 2004Hormone Research in Paediatrics

Clinical, Biochemical and Morphologic Diagnostic Markers in an Infant Male Pseudohermaphrodite Patient with Compound Heterozygous Mutations (G115D/R246W) in SRD5A2 Gene

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Identify the molecular, biochemical, and morphologic etiology in a patient initially diagnosed with partial androgen insensitivity syndrome in infancy.
Assessed baseline and hCG-stimulated testosterone and dihydrotestosterone levels at 2 months of age, followed by testicular histologic examination at 4 months (N=1).
Measured androgen binding and 5alpha-reductase activity in genital skin fibroblasts and sequenced AR (exons 1–8) and SRD5A2 (exons 1–5) genes at 13 years of age.
Sequencing revealed normal AR coding sequences but identified compound heterozygous SRD5A2 mutations (maternal G115D and paternal R246W), causing extremely low 5alpha-reductase activity in fibroblasts.
Retrospective review revealed an elevated testosterone-to-dihydrotestosterone ratio after neonatal hCG stimulation, while testicular interstitial and tubular morphology at 4 months remained normal.

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Implication

Case report reveals compound heterozygous SRD5A2 mutations in an infant with ambiguous genitalia, indicating the diagnostic utility of the testosterone-to-dihydrotestosterone ratio.

Cite This Study

Fernández‐Cancio et al. (2004) studied this question.

synapsesocial.com/papers/6aa34a3bfdc62b0c527b4bfc https://doi.org/10.1159/000081893

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Implication

Case report reveals compound heterozygous SRD5A2 mutations in an infant with ambiguous genitalia, indicating the diagnostic utility of the testosterone-to-dihydrotestosterone ratio.

Clinical, Biochemical and Morphologic Diagnostic Markers in an Infant Male Pseudohermaphrodite Patient with Compound Heterozygous Mutations (G115D/R246W) in SRD5A2 Gene

Key Points

Discussion

Implication

Cite This Study

Clinical, Biochemical and Morphologic Diagnostic Markers in an Infant Male Pseudohermaphrodite Patient with Compound Heterozygous Mutations (G115D/R246W) in SRD5A2 Gene

Key Points

Discussion

Implication

Cite This Study

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