Progressive virilization of a pubertal phenotypic female: 17 beta-hydroxysteroid dehydrogenase deficiency.
17 beta-Hydroxysteroid dehydrogenase deficiency is an uncommon inherited disorder characterized by genital ambiguity and progressive pubertal virilization. We describe the clinical and biochemical features in a 13-year-old 46, XY individual who presented with progressive pubertal virilization.
Park
D
D
Division of Endocrinology, Children's Hospital of Pittsburgh, Pennsylvania 15213, USA.
Lee
P A
PA
Witchel
S F
SF
D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000293:Adolescent; D003937:Diagnosis, Differential; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000201:enzymology*; D005260:Female; D006801:Humans; D011627:Puberty / Q000378:metabolism*; D014770:Virilism / Q000201:enzymology*
D015067:17-Hydroxysteroid Dehydrogenases