Author/Editor		Dolžan, Vita
Title		Analiza gena CYP21B pri bolnicah s funkcionalnim hiperandrogenizmom
Type		monografija
Place		Ljubljana
Publisher		Medicinska fakulteta
Publication year		1997
Volume		str. 107
Language		slo
Abstract		Functional hyperandrogenism (FH) is one of the most common endocrinological disorders in women. Due to the heterogeneity of clinical symptoms diagnostic criteria of FH are not standardized. One or more of the following clinical symptoms are present: oligo/amenorrhoea and decreased fertility, hirsutism, virilism, acnae resistant to treatment or androgenic alopecia. Elevated plasma levels of one or more adrenal androgens are often found. Clinically indistinguishable form FH is the nonclassical form of congenital adrenal hyperplasia (NC-CAH). Stimulation test with adrenocorticotrophic hormone (ACTH) is used to identify NC-CAH. It is difficult to distinguish both conditions when 17-hydroxyprogesterone ( 17-OHP) response to ACTH stimulation is above normal but below the levels associated with NC-CAH (9,8-36 nmol/I). In some populations NC-CAH is often associated with specifc human leukocyte (HLA) antigens. 21-hydroxylase genes (CYP21) were mapped to chromosome 6 in the central region of the major histocompatibility complex (MHC) and close genetic linkage was demonstrated between CYP21 and HLA genes. HLA typing is a useful diagnostic marker for NC-CAH in populations with high frequencies of typically associated HLA antigens. The aim of my work was to find out if Slovenian FH patients with an abnormal or borderline elevation of I 7-OHP after ACTH stimulation carry defects in CYP21 B gene and if HLA antigens described to be associated with NC-CAH are present in our group of patients. 88 FH patients, 18 young women without clinical signs of FH and 40 women, randomly selected from a larger sample from Slovenian population typed for HLA antigens, were included in the study. ACTH stimulation, HLA typing and molecular analysis of CYP21 B gene were used to define possible carriers of CAH in FH patients. None of our patients demonstrated abnormal elevation of 17-OHP typical for NC- CAH (>36 nmol/1). (Abstract truncated at 2000 characters)
Descriptors		HYPERANDROGENISM 17-HYDROXYPROGESTERONE CORTICOTROPIN HLA ANTIGENS STEROID 21-MONOOXYGENASE ADULT ADRENAL HYPERPLASIA, CONGENITAL POINT MUTATION HETEROZYGOTE DETECTION POLYMORPHISM (GENETICS) OLIGONUCLEOTIDE PROBES POLYMERASE CHAIN REACTION DNA MUTATIONAL ANALYSIS