English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Steroid 11  β  -hydroxylase deficiency (11  β  -OHD) is the second most common cause of congenital adrenal hyperplasia. Mutations in the  CYP11B1  gene, which encodes steroid 11  β  -hydroxylase, are responsible for this autosomal recessive disorder. Here, we describe the molecular genetics of two previously reported male siblings in whom diagnosis of 11  β  -OHD has been established based on their hormonal profiles displaying high levels of 11-deoxycortisol and hyperandrogenism. Both patients are compound heterozygous for a novel p.E67fs (c.199delG) mutation in exon 1 and a p.R448H (c.1343G>A) mutation in exon 8. We also report the biochemical and molecular genetics data of one new 11  β  -OHD patient. Sequencing of the  CYP11B1  gene reveals that this patient is compound heterozygous for a novel, previously undescribed p.R141Q (c.422G>A) mutation in exon 3 and a p.T318R (c.953C>G) mutation in exon 5. All three patients are of Croatian (Slavic) origin and there is no self-reported consanguinity in these two families. Results of our investigation confirm that most of the  CYP11B1  mutations are private. In order to elucidate the molecular basis for 11  β  -OHD in the Croatian/Slavic population, it is imperative to perform  CYP11B1  genetic analysis in more patients from this region, since so far only four patients from three unrelated Croatian families have been analyzed.

Two NovelCYP11B1Gene Mutations in Patients from Two Croatian Families with 11β-Hydroxylase Deficiency