Background: Non-standard hypertrophy of the adrenal cortex is a rare endocrinopathy causing the incidence of hyperandrogenism among women of procreative age. The primary objective of this paper is the specification of the clinical picture and modifications of the concentration of pituitary, ovarian and adrenal hormones in the blood of female patients with the syndrome of non-standard hypertrophy of the adrenal cortex (NPKN).
Material and methods: In the Gynaecological Endocrinology Clinic of the Silesian Medical University in Katowice, Poland, 2,353 female patients were hospitalised between 1 January 2003 and 30 June 2009 with symptoms of hyperandrogenism. Of these, 55 were selected for the study. Eventually, 25 female patients with diagnosed NPKN, and 30 randomly selected patients with the polycystic ovarian disease polycystic ovary syndrome (PCOS) were enrolled in the study.
Results: Of the 2,353 female patients hospitalised in the Gynaecological Endocrinology Clinic with symptoms of hyperandrogenism between 1 January 2003 and 30 June 2009, NPKN was found in 1.2% of them. Patients with NPKN displayed a strong hirsutism, which was significantly more intense than in the comparative group. Insulin resistance was found more frequently in the group of female patients with PCOS (67%) compared to the group with NPKN (40%). Polycystic ovarian disease was more frequently observed in the group of patients with PCOS (93%), compared to the group with NPKN (72%). The average concentration of androstendione in the blood serum in the group of patients with NPKN amounted to 7.60 ng/ml (SD = 3.57) and was significantly higher than in the group of patients with PCOS where it was 3.46 ng/ml (SD = 1.53). The average concentration of free testosterone in the blood serum in the group of patients with NPKN amounted to 7.30 pg/ml (SD = 4.13) and was significantly higher than in the group of patients with PCOS, where it was 2.90 pg/ml (SD =1.43 ). The average concentration of DHEAS in the blood serum in the group of patients with NPKN accounted for 403.23 μg/dl (SD = 192.59), and in the group with PCOS it was 257.39 μg/dl (SD = 63.67). This concentration was statistically significantly higher in the group with NPKN than in the group with PCOS. The average concentration of estradiole in the blood serum in the group with NPKN amounted to 111.98 pg/ml (SD = 113.68), while in the group with PCOS it was 62.39 pg/ml (SD = 31.18). The difference of concentrations between the groups NPKN and PCOS was statistically significant. We found a positive correlation between the 17-OHP concentration after 60 minutes of the ACTH test and the severity of hirsutism in the group of patients with NPKN (r = 0.77896). In addition, we found a correlation between the free testosterone and the 17-OHP concentration after 60 minutes of the ACTH test in the group of patients with NPKN (r = 0.48149). A positive correlation was also reported between the symptom of hypertrophy of the clitoris and the 17-OHP concentration after 60 minutes of the ACTH stimulation test in the group of patients with NPKN (r = 0.77221). In the comparative group of patients with PCOS, there was no correlation between the free testosterone and 17-OHP concentration after 60 minutes of the ACTH test (r = 0.3059). There was also no correlation between the severity of hirsutism and the concentration of 17-OHP concentration analysed after 60 minutes of the ACTH test. In all female patients from the PCOS group, there was a correct size of clitoris.
Conclusions: Analysing the clinical picture of the examined population of patients with NPKN enabled us to specify symptoms of disease which were significant for diagnosis, and which helped differentiate NPKN from other endocrinopathies involving hyperandrogenism, including in particular PCOS. Taking everything into consideration, non-standard hypertrophy of the adrenal cortex is a rare cause of hyperandrogenism in women of procreative age. Intense hirsutism and features of virilisation presenting as hypertrophy of the clitoris predominate in the clinical picture of non-standard hypertrophy of the adrenal cortex. The laboratory confirmation of diagnosis of NPKN constitutes the analysis of the 17-OHP level in blood in the ACTH stimulation test. The analyses of free testosterone and its unbound fraction, androstendione and estradiole, help differentiate NPKN from polycystic ovarian disease. (Pol J Endocrinol 2011; 62 (3): 230–237)