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Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency
A Lindqvist1, I A Hughes, S Andersson
1The Department of Obstetrics-Gynecology, University of Texas Southwestern Medical Center, Dallas, Texas 75390-9032, USA.
The Journal of Clinical Endocrinology and Metabolism
|February 7, 2001
Summary
A new mutation in the HSD17B3 gene, C268Y, causes 17 beta-hydroxysteroid dehydrogenase type 3 deficiency. This genetic defect impairs testosterone production, leading to male undermasculinization.
Area of Science:
- Biochemistry
- Genetics
- Endocrinology
Background:
- 17 beta-hydroxysteroid dehydrogenase (HSD) type 3 isozyme is crucial for testosterone biosynthesis in the testes.
- Mutations in the HSD17B3 gene lead to male undermasculinization due to impaired testosterone production.
Observation:
- A novel C268Y substitution mutation in exon 10 of the HSD17B3 gene was identified in a patient with 17 beta-HSD 3 deficiency.
- The patient presented with undermasculinization, a characteristic of impaired testosterone biosynthesis.
Findings:
- Recombinant protein experiments demonstrated that the C268Y substitution abrogates 17 beta-HSD type 3 enzymatic activity.
- This discovery identifies the 20th known mutation in the HSD17B3 gene associated with male undermasculinization.
Implications:
- This finding expands the known spectrum of HSD17B3 mutations causing genetic disorders.
- Understanding these mutations is vital for accurate diagnosis and potential therapeutic strategies for disorders of sex development.