Genotyping Steroid 21-Hydroxylase Deficiency: Hormonal Reference Data*

Abstract

Hormonal reference data, in the form of nomograms relating baseline and stimulated levels of adrenal hormones, provide a means of genotyping steroid 21-hydroxylase (21-OH) deficiency in congenital adrenal hyperplasia. Data from both 360- and 60-min ACTH stimulation tests are given. The serum hormone concentrations that have proven most useful in classifying 21-OH deficiency are 17-hydroxyprogesterone and delta 4-androstenedione. These nomograms clearly distinguish the patient with classical 21-OH deficiency from those with the milder symptomatic and asymptomatic nonclassical forms of 21-OH deficiency (previously referred to as late onset and cryptic forms) as well as heterozygotes for all of the forms and those subjects predicted by HLA genotyping to be unaffected. The nomograms also can identify individuals heterozygous for 21-OH deficiency in the general population who have a characteristic heterozygote response. These nomograms provide a powerful tool by which to assign the 21-OH deficiency genotype. Patients whose hormonal values fall on the regression line within a defined group are assigned to that group. In view of the strong correlation between the 60- and 360-min ACTH stimulation tests, the less cumbersome and shorter 60-min test can be used with the same confidence as the longer test.

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

“…The previously reported findings not only in relation to the prevalence of NC-CAH-due to 21-OHdef but also concerning the HLA phenotypes, are compatible with those reported in the literature [5][6][7][8][9][10][11][12][14][15][16][17][18][19]. As previously reported, the prevalence of 21-OHdef varies from 1% to 20%-30% and it is particularly high around the Mediterranean, in Italians, in the Jewish Ashkenazi, in the Hispanics, in the Turks and in the Arabs [34][35][36][37][38].…”

“…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].…”

“…Group D with 17-OHP60 values <15 nmol/l was composed of unaffected females from NC-CAH and probably a very small number of heterozygous 21-OHdef carriers. In groups C and D all patients were considered as having PCOS, because they did not meet the criterion of 17-OHP60 values >33 nmol/l, of 21-OHdef, as reported in the literature [7,13,17,18,19,21].…”

“…The accurate diagnosis of CAH can be confirmed by molecular gene analysis [12,14], but even today, in clinical practice, molecular biology is not routinely available. ACTH stimulation test remains the principal diagnostic tool [15][16][17][18][19]. The reason for a quick diagnosis of this enzymatic disorder in clinical practice using the adrenal stimulation test is the simplicity of this test.…”

Hirsutismo: diagnóstico

“…A hiperplasia adrenal congênita forma não clássica (HAC-NC) por deficiência da 21-hidroxilase (CYP21) é a causa mais frequente de hirsutismo de origem adrenal, embora sua Di retrizes em foco prevalência, entre mulheres hirsutas como um todo, seja relativamente baixa, variando entre 2% e 10% das pacientes consultando por hirsutismo 16,17 (C) 18 (d) No sul do Brasil, a frequência observada foi de 7,4% 6 (d). A apresentação clínica é variável, incluindo acne, hirsutismo, alopecia androgênica, distúrbio menstrual e anovulação crônica.…”