Consanguinity in question in two patients with congenital adrenal hyperplasia who bear an identical first and last name--second look.
Two patients with identical first and last name, both suffering from Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency, were investigated in our endocrine outpatient unit. The families of the two girls did not know of each other's existence. Although paternal ancestors were identified up to the 11th and 9th previous generations, respectively, and a common area of origin, roughly 50 km apart, in the northwestern part of the Czech Republic (formerly Austrian Silesia) was established, no common ancestor was found. The patients' respective paternal CYP 21B allele was identical. However, by means of analysis of class I-and class II-HLA regions in both patients and their respective parents no common paternal haplotype was established. In order to still postulate consanguinity by the same paternal haplotype it is necessary to assume that two recombinations in the HLA region must have occurred. The probability that these two events have taken place within the past 11 generations is 0.11%.
Raber
W
W
Department of Medicine III, University of Vienna, Austria.
Fischer
G
G
Vierhapper
H
H
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D001317:Austria; D002648:Child; D003241:Consanguinity; D005260:Female; D006239:Haplotypes; D006801:Humans; D008967:Molecular Biology; D010375:Pedigree