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Testicular Adrenal Rests Tumors and Testicular Microlithiasis in a Brazilian Case Series with Classic Congenital Adrenal Hyperplasia.

ABSTRACT: Testicular adrenal rest tumors are a benign condition characterized by the presence of remnants of adrenal tissue within the testes that can lead to infertility. Testicular microlithiasis are calculus deposits within the seminiferous tubules. Both are described in congenital adrenal hyperplasia.Describe the frequency of testicular adrenal rest tumors and testicular microlithiasis in a Brazilian case series of patients with classic congenital adrenal hyperplasia and to also relate these changes to disease control and hypothalamic-pituitary-gonadal axis disorders.Case series study. An ultrasound examination of the scrotum was performed on 12 patients between the ages of 5.33 to 22 (14.72 ± 5.26) years. Testicular adrenal rest tumors were classified according to the degree of testicular infiltration in stages by adapting the Grinten's classification, ranging from the absence of testicular adrenal rests visible by ultrasound (stage ≤ 1) to chronic obstruction of the testicular parenchyma with irreversible damage of the testicle (stage 5).Six patients (5 salt wasting and 1 simple virilizing) with an average age of 17.27 ± 3.09 years and have gone through puberty showed testicular adrenal rest tumors (Grinten stage ≥ 3). In 2 of the patients there was a coincidence with testicular microlithiasis. The frequency of testicular adrenal rest tumors did not relate with the levels of serum 17-hydroxyprogesterone and androstenedione. In 3 patients with testicular adrenal rest tumors, gonadotropin levels were suggestive of hypergonadotropic hypogonadism and one of hypogonadotropic hypogonadism.Testicular adrenal rest tumors were found in greater frequency during puberty and was not related to hormonal control in this group. Some of them happened with testicular microlithiasis.

SUBMITTER: Ohana Marques Coelho de Carvalho L

PROVIDER: S-EPMC5554608 | biostudies-other | 2017 Jan

REPOSITORIES: biostudies-other

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Project description:ObjectiveTo analyze the mutational spectrum, clinical characteristics, genotype-phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal screening in congenital adrenal hyperplasia (CAH) patients from Slovakia and Slovenia.Design and methodsData were obtained from 104 patients with CAH registered in Slovak and Slovenian databases. Low-resolution genotyping was performed to detect the most common point mutations. To detect deletions, conversions, point mutations, or other sequence changes in the CYP21A2 gene, high-resolution genotyping was performed. Genotypes were classified according to residual 21-hydroxylase activity (null, A, B, C).Results64% of the individuals had the salt-wasting form (SW-CAH), 15% the simple virilizing form (SV-CAH), and 21% the non-classic (NC-CAH). CYP21A2 gene deletion/conversion and c.293-13A/C>G pathogenic variant accounted together for 55.5% of the affected alleles. In SV-CAH p.Ile172Asn was the most common pathogenic variant (28.13%), while in NC-CAH p.Val282Leu (33.33%), CYP21A2 gene deletion/conversion (21.43%), c.293-13A/C>G (14.29%), Pro30Leu (11.90%). The frequency of alleles with multiple pathogenic variants was higher in Slovenian patients (15.83% of all alleles). Severe genotypes (0 and A) correlated well with the expected phenotype (SW in 94.74% and 97.3%), while less severe genotypes (B and C) correlated weaklier (SV in 50% and NC in 70.8%). The median age of SW-CAH patients at the time of diagnosis was 6 days in Slovakia vs. 28.5 days in Slovenia (p=0.01). Most of the Slovak patients in the cohort were detected by NBS. (24 out of 29). TARTs were identified in 7 out of 24 male patients, of whom all (100%) had SW-CAH and all had poor hormonal control. The median age at the diagnosis of TARTs was 13 years.ConclusionThe study confirmed the importance of neonatal screening, especially in the speed of diagnosis of severe forms of CAH. The prediction of the 21-OH deficiency phenotype was reasonably good in the case of severe pathogenic variants, but less reliable in the case of milder pathogenic variants, which is consistent compared to data from other populations. Screening for TARTs should be realized in all male patients with CAH, since there is possible remission when identified early.

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Testicular Adrenal Rests Tumors and Testicular Microlithiasis in a Brazilian Case Series with Classic Congenital Adrenal Hyperplasia.

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