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Pubertal Development in 17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency .
- Source :
-
Hormone research in paediatrics [Horm Res Paediatr] 2017; Vol. 87 (5), pp. 354-358. Date of Electronic Publication: 2016 Dec 12. - Publication Year :
- 2017
-
Abstract
- Background: 17β-hydroxysteroid dehydrogenase (17β-HSD) type 3 deficiency is an autosomal recessive disorder with diminished testosterone synthesis and consequently underandrogenisation. 46,XY patients with 17β-HSD type 3 deficiency are often assigned a female sex at birth but have a high virilisation potential at the time of puberty.<br />Methods: We studied four 46,XY patients with 17β-HSD type 3 deficiency at puberty with regard to the underlying mutations, the hormone values, and the clinical findings.<br />Results: Three patients were initially assigned a female sex and 1 was assigned a male sex. All had relevant mutations in the HSD17B3 gene. The 2 patients with deleterious mutations had lower testosterone values at the time of puberty than the patients with possible residual activity of 17β-HSD type 3. One of the latter patients changed to male gender.<br />Conclusion: All 4 patients with 17β-HSD type 3 deficiency synthesized relevant amounts (>0.7 µg/L) of testosterone at puberty, which lead to variable androgenisation. In patients with presumable residual activity of the mutated enzyme, testosterone values in the male reference range can be achieved, thereby inducing male pubertal development. These patients should possibly be assigned a male sex. Any surgical intervention should be avoided until the patients are old enough to consider their options of medical and surgical intervention. .<br /> (© 2016 S. Karger AG, Basel.)
- Subjects :
- 17-Hydroxysteroid Dehydrogenases genetics
Adolescent
Female
Humans
Male
17-Hydroxysteroid Dehydrogenases deficiency
Disorder of Sex Development, 46,XY genetics
Disorder of Sex Development, 46,XY pathology
Disorder of Sex Development, 46,XY physiopathology
Gynecomastia genetics
Gynecomastia pathology
Gynecomastia physiopathology
Mutation
Puberty
Steroid Metabolism, Inborn Errors genetics
Steroid Metabolism, Inborn Errors pathology
Steroid Metabolism, Inborn Errors physiopathology
Virilism genetics
Virilism pathology
Virilism physiopathology
Subjects
Details
- Language :
- English
- ISSN :
- 1663-2826
- Volume :
- 87
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Hormone research in paediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 27951541
- Full Text :
- https://doi.org/10.1159/000453613