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Sökning: WFRF:(Sippell WG)

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  • Barbaro, M, et al. (författare)
  • Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia
  • 2012
  • Ingår i: Hormone research in paediatrics. - : S. Karger AG. - 1663-2826 .- 1663-2818. ; 77:2, s. 100-107
  • Tidskriftsartikel (refereegranskat)abstract
    • <i>Background/Aim:</i>X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency and hypogonadic hypogonadism. It is caused by deletions or point mutations of the <i>NR0B1 </i>gene, on Xp21. AHC can be associated with glycerol kinase deficiency, Duchenne muscular dystrophy and mental retardation (MR), as part of a contiguous gene deletion syndrome. A synthetic probe set for multiplex ligation-dependent probe amplification analysis was developed to confirm and characterize <i>NR0B1</i> deletions in patients with AHC and to correlate their genotypes with their divergent phenotypes. <i>Results:</i>In 2 patients, isolated AHC was confirmed, while a patient at risk for metabolic crisis was revealed as the deletion extends to the <i>GK</i> gene. A deletion extending to <i>IL1RAPL1</i> was confirmed in both patients showing MR. Thus, a good genotype-phenotype correlation was confirmed. <i>Conclusions:</i>Multiplex ligation-dependent probe amplification analysis is a valuable tool to detect <i>NR0B1</i> and contiguous gene deletions in patients with AHC. It is especially helpful for <i>IL1RAPL1 </i>deletion detection as no clinical markers for MR are available. Furthermore, multiplex ligation-dependent probe amplification has the advantage to identify female carriers that, depending on the deletion extension, have a high risk of giving birth to children with MR, AHC, glycerol kinase deficiency and Duchenne muscular dystrophy.
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  • de Zegher, F, et al. (författare)
  • Androgens and fetal growth
  • 1998
  • Ingår i: Hormone research. - : S. Karger AG. - 0301-0163. ; 50:4, s. 243-244
  • Tidskriftsartikel (refereegranskat)abstract
    • Boys are heavier than girls at term birth. Children with a 46,XY karyotype and androgen insensitivity syndrome (clinically complete form and/or proven mutations in the androgen receptor gene) were found to have a birth weight comparable to that of girls. These findings support the hypothesis that the difference in birth weight between boys and girls is generated by androgen action.
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