High Frequency of Nonclassical Steroid 21-Hydroxylase Deficiency

Speiser, Phyllis; Dupont, Bo; Rubinstein, Pablo; Piazza, Alberto; Kaštelan, A; New, Maria I.

doi:10.1097/00006254-198604000-00017

Cited by 245 publications

(303 citation statements)

References 21 publications

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“…The prevalence of this enzymatic deficiency in women with hirsutism and PCOS varies between 1%-33%, reflecting the different criteria in the methodology of patient collection and diagnosis of the disease [9-11, 15, 17]. It appears to be particularly high in ethnic groups around the Mediterranean, in the Jewish Ashkenazi, in Hispanics, Italians, Yugoslavians, Turks and in the Arabic populations [5,[27][28][29][30][31]. The high basic levels of 17-OHP (>15 nmol/l) and the values of 17-OHP 60 min (after ACTH stimulation test) higher than 33 nmol/l, are diagnostic for this enzymatic disorder [2-4, 6, 7, 12-15, 17, 19].…”

Section: Discussionmentioning

confidence: 99%

“…Group B (17-OHP60 values ≥33.2 nmol/l and <90.75 nmol/l) included patients with a moderate form of 21-OH def. In groups A and B all patients were considered as having NC-CAH, as reported in the literature [2][3][4][5][6][7][12][13][14][15][16][17][18][19].…”

Section: Methodsmentioning

confidence: 99%

“…The classical form appears in a rate between 1 : 5,000 and 1 : 25,000 among the live neonates of North America and Europe, while the non-classical form occurs in approximately 0.2 per cent of the general white populations and the rate is especially high between the Jews Ashkenazi and a part of the Mediterranean populations (i.e. Italians, Hispanics) [3][4][5][6]. Heterozygosity for 21-OHdef has been estimated to affect approximately 1 in 60 of the general non-Jewish Caucasian population, although it may affect as many as 1 in 3 of Ashkenazi Jews [5][6][7].…”

mentioning

confidence: 99%

“…Italians, Hispanics) [3][4][5][6]. Heterozygosity for 21-OHdef has been estimated to affect approximately 1 in 60 of the general non-Jewish Caucasian population, although it may affect as many as 1 in 3 of Ashkenazi Jews [5][6][7]. In women with CAH hyperandrogenism may be present, extending from virilization of external genitalia and salt wasting in C-CAH cases, to menstrual irregularity, obesity, short stature, infertility or subfertility and skin disorders (hirsutism, seborrhea and/or acne in peripubertal period) in NC-CAH cases.…”

mentioning

confidence: 99%

“…In many studies simple diagnostic criteria were used [2,3,4,6]. The positively genetic linkage disequilibrium between 21-OHdef and HLA phenotypes B14, DR1, Bw47, B35 and B5 has been reported in many studies [5,7,13,15,16].…”

mentioning

confidence: 99%

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The Prevalence of Non-classical Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Greek Women with Hirsutism and Polycystic Ovary Syndrome

et al. 2008

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Abstract. The study was aimed to find out the prevalence of non-classical congenital adrenal hyperplasia (NC-CAH) due to 21-hydroxylase deficiency (21-OHdef) among Greek women with hirsutism and polycystic ovary syndrome (PCOS) and to compare the results of ACTH stimulated 17-hydroxyprogesterone 60 min (17-OHP60) values, with human leukocyte antigens (HLA) phenotypes, in any patient diagnosed as having NC-CAH. One hundred and seven women with hirsutism and PCOS were included in the study. All were presented at the Reproductive Endocrinology Outpatient Clinic with hirsutism and PCOS. After ACTH stimulation test, 10 women were diagnosed as having NC-CAH because of high 17-OHP60 values ≥36 nmol/l, and 97 as having PCOS. Ten (10.3%) of the 97 women presented hormonal findings compatible with adrenal hyper-response due to ACTH testing, because of hyperstimulated 17-OHP60 values ≥21 nmol/l and <32 nmol/l. The HLA typing of 10 patients with NC-CAH revealed the phenotypes B14, DR1, B35, B7 and B44 which present positively genetic linkage disequilibrium with 21-OHdef, as reported in the literature. In conclusion: In Greek women with hirsutism and PCOS we have found that: a. The prevalence of NC-CAH among these women is relatively high and reaches at 10%. b. The HLA phenotypes B 14, DR 1 , B 35 , B 7 and B44 were found in high frequency in these NC-CAH patients. c. Adrenal NC-CAH due to 21-OHdef as well as adrenal hyperactivity, revealed after ACTH testing, constitutes an important reason of hirsutism and PCOS in these Greek women and both reach a rate of 20%.

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Section: Discussionmentioning

confidence: 99%