PSAT072 Clinical Features of Patients with 21-Hydroxylase Deficiency and Testicular Adrenal Rest Tumors

Abstract

Abstract Testicular adrenal rest tumors (TARTs) are one of the most frequent comorbidities in males with 21-hydroxylase deficiency (CAH) and different prevalence rates have been reported. TART still present difficult control and frequently lead to infertility. Since it is also observed in patients with adequate hormonal control, its predictors factors are not yet well-known. Objective To evaluate TARTs prevalence in a significant CAH male cohort and to correlate with the long-term predictors and their impact on patients’ gonadal function. Patients and methods: Data of 53 males (24 salt wasters, 10 non-classical) were retrospectively evaluated. Hormonal control quality, assessed through long-term (last 5 years) mean ACTH, 17OHP, androstenedione (D4), testosterone (T), FSH, LH, inhibin B and renin levels were analyzed as well as sperm analysis. Mean glucocorticoid doses were evaluated and converted into cortisol equivalent. Genotypes, determined through entire CYP21A2 sequencing, were classified according to predicted impairment on residual enzymatic activity: null and severe groups. Data of patients with/without TARTs by scrotal ultrasound (US) were compared. Student's t and Chi-square tests were used. Results TARTs were observed in 18 (42%) of classical patients, all of them presented with bilateral lesions. None of the non-classical males presented with TART. The mean age of TART diagnosis was 21.32±5.2 years, the youngest patient with TART was 12y6mo old. Ten patients with TART underwent sperm analysis and all of them presented with altered results, while 3/10 patients without TART presented with abnormal sperm count. On the other hand, only 4 (22%) TART patients developed hypergonadotropic hypogonadism. Despite late diagnosis of the SV form in our cohort, the frequency of TARTs was significantly higher in SW patients (54% vs 37%); interestingly, similar frequencies of genotype groups were observed in patient with/without TARTs. Mean glucocorticoid doses did not differ in patients with and without TARTs as well as fludrocortisone doses in SW patients with and without TARTs (p>0.05 for both). Mean 17OHP, D4 and T levels did not differ in both patient groups; mean ACTH levels were 305.3+/-282 vs. 103.2+/-81.9pg/ml in patients with and without TART, respectively (p>0.05). Mean renin levels were significantly higher in patients with TARTs than in those without (152.4+/-116.8 vs. 93.8+/-96.4mIU/ml). Testicular function parameters (mean inhibin B, FSH, LH levels and frequency of abnormal sperm analysis) were worse in the TART group vs without TART (p<0.05). Conclusion in our series, a high frequency of TARTs was observed, leading to male fertility impairment. An additive renin stimulatory effect, instead of long-term hormonal control or genotype, seemed to be the major role in TARTs development. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.