Non-Virilizing Congenital Adrenal Hyperplasia in a Female Patient with a Novel HSD3B2 Mutation.
Classic 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD II) deficiency causes congenital adrenal hyperplasia with glucocorticoid, mineralocorticoid, and sex steroid deficiency. We present a female patient with congenital adrenal hyperplasia detected in newborn screening due to elevated 17OH-progesterone. Female external genitalia and non-measurable androgen levels elicited the suspicion of a defect early in the steroid cascade. Two loss-of-function HSD3B2 mutations (1 novel) were detected and confirmed in silico. We argue that in a girl with glucocorticoid and mineralocorticoid deficiency without virilization, 3β-HSD II deficiency is an important differential diagnosis. 17OH-progesterone may initially be elevated due to placental and peripheral activity of 3β-HSD I, whereas dehydroepiandrosterone may not be increased.
Pediatric Department, Kantonsspital Winterthur, Winterthur, Switzerland.
Ursina
U
Probst-Scheidegger
Sameer S
SS
Udhane
Dagmar
D
l'Allemand
Christa E
CE
Flück
Núria
N
Camats
D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000235:genetics*; D000595:Amino Acid Sequence; D003687:Dehydroepiandrosterone / Q000097:blood; D005260:Female; D005938:Glucocorticoids / Q000172:deficiency / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008901:Mineralocorticoids / Q000172:deficiency / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D011375:Progesterone Reductase / Q000737:chemistry* / Q000235:genetics; D017433:Protein Structure, Secondary; D020539:Sequence Analysis, Protein; D014770:Virilism / Q000235:genetics / Q000378:metabolism
D005938:Glucocorticoids; D008901:Mineralocorticoids; D003687:Dehydroepiandrosterone; D019326:17-alpha-Hydroxyprogesterone; C533068:3 beta-hydroxysteroid dehydrogenase type II; D011375:Progesterone Reductase