Successful Pregnancy in a Patient with Severe 11-Beta-Hydroxylase Deficiency and Novel Mutations in CYP11B1 Gene

Publisher： Karger

E-ISSN： 1663-2826|68|6|294-297

ISSN： 1663-2818

Source： Hormone Research in Paediatrics, Vol.68, Iss.6, 2007-08, pp. : 294-297

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Abstract

11β-Hydroxylase deficiency is a rare form of congenital adrenal hyperplasia, resulting in virilization, glucocorticoid deficiency and hypertension. There have been no previous reports in the literature of a successful pregnancy in a severely affected female. We report the first successful pregnancy resulting in a live birth for a female with 11β-hydroxylase deficiency and outline management issues from preconception to successful birth. We also report 2 novel mutations in the CYP11B1 gene leading to 11β-hydroxylase deficiency.

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