Article
Pubertal Development in 17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency .
Hormone research in paediatrics - 1 Jan 2017
Hiort Olaf, Marshall Louise, Birnbaum Wiebke, Wünsch Lutz, Holterhus Paul-Martin, Döhnert Ulla, Werner Ralf
Abstract excerpt
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...
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