Endocrine Abstracts

Background: Hyperandrogenism in congenital adrenal hyperplasia (CAH) is associated with virilisation in female patients and subfertility in both male and female patients. However, little is known regarding the association of hyperandrogenaemia with polycythaemia. We evaluate the association between the adrenal hormone profile and haematocrit (HCT)/haemoglobin (Hb) in a cohort of patients with classical CAH.

Methods: Single centre retrospective analysis of paired samples for full blood count and adrenal hormones from 38 patients with classical CAH taken at routine clinic follow up appointments between 2018 and 2021. Seven patients were excluded (3 receiving exogenous testosterone, 4 missing samples). One individual suspected of having primary polycythaemia was also excluded, leaving 30 for analysis (12M, 18F; age 18-62 years).

Results: Median values for males and females respectively were: Hb 152g/l, 143g/l; HCT 0.465, 0.429; total testosterone 11.6nmol/l, 1.4nmol/l; 17-hydroxyprogesterone (17OHP) 81.15nmol/l, 51.2nmol/l; androstenedione 14.3nmol/l, 6.9nmol/l. One male and one female had HCT above the reference range (0.52 and 0.48 for males and females, respectively). In males, there was no relationship between testosterone and Hb/HCT, but there was a positive correlation between androstenedione and HCT (rho = 0.68, P < 0.05). There was also an association between 17-hydroxyprogesterone (17OHP) and HCT (rho = 0.73, P < 0.01). No significant correlations were found between testosterone, androstenedione or 17OHP and Hb or HCT in women. HCT/Hb were not associated with smoking status or urea.

Conclusions: We have found an association between adrenal androgens and HCT in male patients with CAH but not in females. Male patients with androgen excess may be more difficult to identify clinically than female patients, who typically develop symptoms. This preliminary data suggests a need for further, larger studies, examining the association between CAH, erythrocytosis and potential morbidity.