Pubertal Development in 17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency
| Autor: | Louise Marshall, Lutz Wünsch, Olaf Hiort, Ralf Werner, Ulla Döhnert, Wiebke Birnbaum, Paul-Martin Holterhus |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine Steroid Metabolism Inborn Errors endocrine system medicine.medical_specialty animal structures 17-Hydroxysteroid Dehydrogenases Adolescent Endocrinology Diabetes and Metabolism 030209 endocrinology & metabolism Dehydrogenase 17beta-hydroxysteroid dehydrogenase Biology 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Endocrinology Internal medicine medicine Humans Testosterone Disorder of Sex Development 46 XY Puberty Virilism 030104 developmental biology chemistry Mutation Pediatrics Perinatology and Child Health Gynecomastia Female |
| Zdroj: | Hormone Research in Paediatrics. 87:354-358 |
| ISSN: | 1663-2826 1663-2818 |
| Popis: | 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. 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. 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. 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|