Follicle stimulating hormone (FSH), luteinizing hormone (LH), prolactin, estrone, 17pestradio1, androstenedione, plasma and salivary testosterone, DHEA-S, 170HP,cortisoland sex hormone binding globulin (SHBG) were considered. HLA alleles B14 and D R p 1 were found to be signijicantly more frequent in patients with respect to controls (relative risk: 8.7 and 7.2, p c 0.001 and p 10 ng/ml (approximatelymean f 2SD of heterozygote poststimulated values as reported by Dewailly and colleaguess) at least at one sampling time, were considered confirmatory of LOHD.Įndocrine studies Peripheral blood and saliva were sampled as usual. Massobrio* Division of Endocrinology and Laboratory, Mauriziano ‘Umberto I’ Hospital, Turin *Institute of Obstetrics and Gynecology, Chair D, University of Turin, Mauriziano ‘Umberto I’ Hospital, Turin +Department of Genetics and Centro CNR ‘Immunogenetica ed Istocompatibditi’, University of Turin, Turin, Italy Key words: ADRENAL HYPERPLASIA, LATE-ONSETADRENAL HYPERPLASIA, ACTHTEST, HLA, 21-HYDROXYLASE GENES,COMPLEMENT TYPINGĪBSTRACT To investigate the genetic polymorphisms o f the HLA region in late-onset adrenal hyperplasia, 13 Italian patients afected by the disease were analyzed for: (1) HLA-A and - B typing (2) restrictionfragment length polymorphism (RFLP) ofDRP, DQP, DQa, 21-hydroxylase A and B genes (3)fourth complementfraction loci A and B ( C 4 A and C4B), second complement fraction (CZ) and properdin B factor (Bf) complement typing (4) hormonal characteristics associated with some H L A haplotypes. Hormonal profiles in Italian late-onset adrenal hyperplasia correlate with HLA class I11 polymorphisms A. Gynecol Endocrinol Downloaded from by Mcgill University on 10/27/14 For personal use only.

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