Open AccessSevere Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes ofHSD3B2c.35G>A Homozygotes
Author(s) -
Abigail R. Benkert,
Millie Young,
Donna L. Robinson,
Christine Hendrickson,
Peter A. Lee,
Kevin A. Strauss
Publication year - 2015
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2015-2098
Subject(s) - congenital adrenal hyperplasia , medicine , endocrinology , glucocorticoid , 21 hydroxylase , pediatrics
3-β-hydroxysteroid dehydrogenase (HSD3B2) deficiency accounts for less than 5% of congenital adrenal hyperplasia worldwide, but is relatively common among the Old Order Amish of North America due to a HSD3B2 c.35G>A founder mutation.
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