Two novel mutations in splice donor sites of CYP11B1 in congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.

doi:10.3109/07435800009048602

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Article

Two novel mutations in splice donor sites of CYP11B1 in congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.

Endocrine research - 1 Nov 2000

Chabre O, Portrat-Doyen S, Vivier J, Morel Y, Defaye G

Abstract excerpt

We present an in vivo and in vitro study of congenital adrenal hyperplasia in a patient with 11beta-hydroxylase deficiency. Genetic analysis showed two new base substitutions of CYP11B1, a conservative transition at the last base of exon 5, and a IVS8+4A-->G transition in intron 8. Difficulties with suppressive therapy resulted in severe hypertension. A laparoscopic adrenalectomy was decided which lead to...

Topics

Adrenal Cortex
Adrenal Glands
Adrenal Hyperplasia, Congenital
Adult
Cortodoxone
DNA
DNA, Complementary
DNA, Recombinant
Female
Genome
Humans
Hydrocortisone
Metabolism, Inborn Errors
Mutation
RNA, Messenger
Steroid 11-beta-Hydroxylase

Source

Open in PubMed

Identifiers

PMID: 11196457
DOI: 10.3109/07435800009048602

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