Endocrine Abstracts

Background: Classical congenital adrenal hyperplasia (CAH) is diagnosed mainly in newborns. While patients with salt wasting form cannot survive without timely diagnosis, those with simple virilizing or nonclassical may be diagnosed even in advanced age.

Aim: To present clinical, biochemical, radiological and genetic characteristics of series of CAH patients diagnosed in advanced adulthood.

Material and methods: Eight patients (F=5, M=3) with adult diagnosis of CAH were qualified to the analysis. CAH was diagnosed based on urine steroid profile made by GC/MS-SIM. Clinical data consisted of antropometric measurement, metabolic and hormonal assessment, adrenal CT/MR imaging, testicular ultrasound and semen analysis in men. Genetic analysis was made by direct sequencing of CYP21A2 gene.

Results: Women’s age at CAH diagnosis was 18–65 yrs (three were over 30), men’s 32–52 yr. Women were seeking endocrine consultation because of primary amenorrhea, clinical hyperandrogenism, adrenal incidentaloma and clinical suspicion of hypercorstisolism. Men were admitted for a diagnostic work-up of adrenal incidentaloma, one with suspicion of ACTH- dependent Cushing’s syndrome. 3/5 women and all men had partial cortisol deficiency. Beside one men, none presented in past with adrenal crisis. 4/5 females were virgo, 3-had primary amenorrhea, 4/5 had pronounced hirsutism, one presented with acne and 2 with alopecia. All men were complaining on slight libido decrease. All patients had short stature. BMI- among women was 20–40.6 kg/m², in men 33.6–33.7. All patients presented with insulin resistance, one man with diabetes. Mean testosterone level in females was 10.25 (1.97–27.9) nmol/l, androstendione-10.02 (4.4–14.1) ng/ml. All men were diagnosed with biochemical hypogonadotropic hypogonadism. In the oldest men TART’s were found, while in others no abnormalities in testes were seen. Adrenal tumors or hypertrophy was found in all three men and in 3/5 women.

Conclusion: The diagnosis of classical CAH in advanced age is possible. Males with hypogonadotropic hypogonadism, adrenal tumors and short stature should be evaluated towards CAH. The assessment of cortisol reserve in manadatory in case of adrenal incidentaloma, elevated ACTH level and no clinical data for hypercortisolism.