scholarly journals 11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency

2017 ◽  
Vol 102 (8) ◽  
pp. 2701-2710 ◽  
Author(s):  
Adina F Turcu ◽  
Ashwini Mallappa ◽  
Meredith S Elman ◽  
Nilo A Avila ◽  
Jamie Marko ◽  
...  
Keyword(s):  
Hydroxylase Deficiency ◽  
Testicular Adrenal Rest Tumors ◽  
Adrenal Rest ◽  
21 Hydroxylase Deficiency ◽  
Testicular Adrenal Rest ◽  
Adrenal Volume

scholarly journals Testicular adrenal rest tumors in boys with 21-hydroxylase deficiency, timely diagnosis and follow-up

2018 ◽  
Vol 7 (4) ◽  
pp. 544-552 ◽  
Author(s):  
Mirjana Kocova ◽  
Vesna Janevska ◽  
Violeta Anastasovska
Keyword(s):  
Metabolic Control ◽  
Ultrasound Examination ◽  
Genetic Mutations ◽  
Ultrasound Screening ◽  
Hydroxylase Deficiency ◽  
Timely Diagnosis ◽  
Testicular Adrenal Rest Tumors ◽  
Adrenal Rest ◽  
21 Hydroxylase Deficiency ◽  
Testicular Adrenal Rest

Background Testicular adrenal rest tumors (TARTs) are found in 30–94% of adult males with congenital adrenal hyperplasia (CAH). We sought to explore TART appearance through yearly ultrasound examination of testes in young boys with CAH, and its association with metabolic control and genetic mutations. Methods Twenty-five boys with 21-hydroxylase deficiency in the age group 4–18 years diagnosed during the period 2001–2016 were included in the study. ACTH, 17-hydroxyprogesterone, androstenedione and testosterone were measured at 4-month intervals. Growth and BMI were assessed at the time of evaluation. PCR/ACRS method was used for CYP21A2 gene analysis. Testicular ultrasound examination was performed yearly. Results TARTs were detected by ultrasound in 8 children at the age of 6–16 years (13.2 years average). Five had salt-wasting form, two had simple virilizing form and one had non-classic form of CAH. Significant differences in the17OHP and androstenedione levels were detected between the boys, adherent and non-adherent to therapy. Inadequate metabolic control was not different in boys with and without TART (11/17 and 5/8 respectively). No significant difference was detected in the distribution of genetic mutations or adherence to therapy between patients with and without TARTs. One patient had a mutation not reported thus far in TART and another developed leukemia. Conclusion TART is not rare in young boys with CAH, irrespective of the specific mutation or metabolic control. Ultrasound screening helps timely diagnosis and adjustment of therapy.

scholarly journals Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia

2012 ◽  
Vol 166 (3) ◽  
pp. 441-449 ◽  
Author(s):  
Henrik Falhammar ◽  
Helena Filipsson Nyström ◽  
Urban Ekström ◽  
Seth Granberg ◽  
Anna Wedell ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Fat Mass ◽  
Sperm Concentration ◽  
Inhibin B ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Testicular Adrenal Rest Tumors ◽  
Adrenal Rest ◽  
21 Hydroxylase Deficiency ◽  
Testicular Adrenal Rest

ObjectiveFertility in males with congenital adrenal hyperplasia (CAH) is reported from normal to severely impaired. Therefore, we investigated fertility/fecundity, social/sexual situation, and pituitary–gonadal function in CAH males.Subjects and methodsThe patient cohort comprised 30 males, aged 19–67 years, with 21-hydroxylase deficiency. Their fertility was compared with age-matched national population data. For the evaluation of social/sexual factors and hormone status, age-matched controls were recruited (n=32). Subgroups of different ages (<30 years and older) and CYP21A2 genotypes (null (severe salt-wasting (SW)), I2splice (milder SW), and I172N (simple virilizing)) were also studied. Patients underwent testicular ultrasound examination (n=21) and semen analysis (n=14).ResultsFertility was impaired in CAH males compared with national data (0.9±1.3 vs 1.8±0.5 children/father, P<0.001). There were no major differences in social and sexual factors between patients and controls apart from more fecundity problems, particularly in the I172N group. The patients had lower testosterone/estradiol (E2) ratio and inhibin B, and higher FSH. The semen samples were pathological in 43% (6/14) of patients and sperm concentration correlated with inhibin B and FSH. Testicular adrenal rest tumors (TARTs) were found in 86% (18/21). Functional testicular volume correlated positively with the testosterone/E2 ratio, sperm concentration, and inhibin B. Patients with pathological semen had increased fat mass and indications of increased cardiometabolic risk.ConclusionsFertility/fecundity was impaired in CAH males. The frequent occurrence of TARTs resulting in testicular insufficiency appears to be the major cause, but other factors such as elevated fat mass may contribute to a low semen quality.

scholarly journals Production of 11-oxygenated androgens by testicular adrenal rest tumors

2021 ◽  
Author(s):  
Mariska A M Schröder ◽  
Adina F Turcu ◽  
Patrick O’Day ◽  
Antonius E van Herwaarden ◽  
Paul N Span ◽  
...  
Keyword(s):  
Peripheral Blood ◽  
High Ratio ◽  
Spermatic Vein ◽  
Acth Stimulation ◽  
Hydroxylase Deficiency ◽  
Testicular Adrenal Rest Tumors ◽  
Adrenal Rest ◽  
21 Hydroxylase Deficiency ◽  
Testicular Adrenal Rest

Abstract Context Testicular adrenal rest tumors (TART) are a common complication in males with classic 21-hydroxylase deficiency (21OHD). TART are likely to contribute to the androgen excess in 21OHD patients, but a direct quantification of steroidogenesis from these tumors has not been yet done. Objective Define the production of 11-oxygenated 19-carbon (11oxC19) steroids by TART. Participants and methods Steroids were measured in left (n=7) and right (n=4) spermatic vein- and simultaneously taken peripheral blood (n=7) samples from seven men with 21OHD and TART using liquid chromatography-tandem mass spectrometry. For comparison, we also measured the peripheral steroid concentrations in five adrenalectomized patients and twelve age- and BMI-matched controls. Additionally, steroids were quantified in TART cell- and adrenal cell-conditioned medium, with and without adrenocorticotropic hormone (ACTH) stimulation. Results Compared to peripheral blood of 21OHD patients with TART, the spermatic vein samples displayed the highest gradient for 11β-hydroxytestosterone (11OHT; 96-fold) of the 11oxC19 steroids, followed by 11-ketotestosterone (47-fold) and 11β-hydroxyandrostenedione (11OHA4; 29-fold), suggesting production of these steroids in TART. TART cells produced higher levels of testosterone, and lower levels of A4 and 11OHA4 after ACTH stimulation compared to adrenal cells, indicating ACTH-induced production of testosterone in TART. Conclusion In patients with 21OHD, TART produce 11oxC19 steroids, but in different proportions than the adrenals. The very high ratio of 11OHT in spermatic- versus peripheral vein blood suggests the 11-hydroxylation of testosterone by TART, and the in vitro results indicate that this metabolism is ACTH-sensitive.

scholarly journals Production of 11-Oxygenated Androgens by Testicular Adrenal Rest Tumors

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A814-A815
Author(s):  
Mariska A M Schröder ◽  
Adina F Turcu ◽  
Patrick O’Day ◽  
Antonius E van Herwaarden ◽  
Paul N Span ◽  
...  
Keyword(s):  
Conditioned Medium ◽  
Spermatic Vein ◽  
Acth Stimulation ◽  
Hydroxylase Deficiency ◽  
Adrenal Cell ◽  
Testicular Adrenal Rest Tumors ◽  
Adrenal Rest ◽  
21 Hydroxylase Deficiency ◽  
Testicular Adrenal Rest ◽  
Cell Conditioned Medium

Abstract Testicular adrenal rest tumors (TART) are a common complication in male patients with classic 21-hydroxylase deficiency (21OHD). TART are considered to have steroid-producing properties and may contribute to the androgen excess in 21OHD patients. This study aims to define the production of 11-oxygenated 19-carbon (11oxC19) steroids by TART. Steroids were measured in left (n=7) and right (n=4) spermatic vein- and simultaneously taken peripheral plasma (n=7) samples from seven men with 21OHD and TART using liquid chromatography-tandem mass spectrometry. In addition, steroids were quantified in TART cell- and adrenal cell-conditioned medium, with and without adrenocorticotropic hormone (ACTH) stimulation. Compared to peripheral blood of 21OHD patients with TART, the spermatic vein samples displayed the highest gradient for 11-hydroxytestosterone (11OHT; 96-fold) of the 11oxC19 steroids, followed by 11-ketotestosterone (47-fold) and 11-hydroxyandrostenedione (11OHA4; 29-fold), suggesting production of these steroids in TART. TART cell-conditioned medium contained higher levels of testosterone, and lower levels of androstenedione and 11OHA4 after ACTH stimulation compared to adrenal cell-conditioned medium, indicating ACTH-induced production of testosterone in TART. TART cells also produced 11OHT after 48 h of ACTH stimulation. Thus, in patients with 21OHD, TART produce 11oxC19 steroids, but in different proportions than the adrenals. The very high ratio of 11OHT in spermatic vein- versus peripheral vein blood suggests the 11-hydroxylation of testosterone by TART, and the in-vitro results indicate that this metabolism is ACTH-sensitive.

scholarly journals Case Report:clinical experience of bilateral giant pediatric Testicular adrenal rest tumors with 3 Beta-Hydroxysteroid Dehydrogenase-2 family history

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Lingyun Yu ◽  
Pengyu Chen ◽  
Wenbin Zhu ◽  
Junjie Sun ◽  
Shoulin Li
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Tumor Size ◽  
Hydroxysteroid Dehydrogenase ◽  
Endocrine Treatment ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Testicular Adrenal Rest Tumors ◽  
Adrenal Rest ◽  
21 Hydroxylase Deficiency ◽  
Testicular Adrenal Rest

Abstract Background We reported a patient with Testicular adrenal rest tumors(TARTs) caused by congenital adrenal hyperplasia(CAH). TARTs occur frequently in CAH population with 21-hydroxylase deficiency(21-OHD). There are few reports of TARTs with 3β-hydroxysteroid dehydrogenase deficiency-2 (3β-2HSD).Furthermore,gaint TARTs are rarely mentioned in reported cases involving affected siblings. Case presentation A 14-year-old male patient was admitted by congenital adrenal hyperplasia with progressively increasing bilateral testicular masses.The Patient and his elder brother had been performed mutational and chromosome analysis and biopsy. Hormonal and anthropometric measurements were performed during endocrine treatments. We successfully performed surgery and excised two 83mm×46mm×44mm and 74mm×49mm×31mm tumors. Our pathology and immunochemistry tests have proven TARTs in patient. At first, both siblings received regular doses of hydrocortisone and fludrocortisones and tumor size regressed. During the one-year irregular intake due to Covid-19 pandemic, endocrine treatment became insensitive and tumor size slowly increased. The gene analysis reported two novel mutations C.776 C>T and C.674 T>A. The C.776 C>T is from father and has been reported. The C.674 T>A inherited from mother and cannot found in gene library and may related to TARTs. Conclusions This case illustrates inadequate hormone therapy could cause tumor enlargement. It is essential to seek for ultrasound examination once suspected scrotal mass occurred.It is necessary to adjust endocrine medicine or adopt surgery in refractory gaint TARTs. And presence of tunica vaginalis cavity may indicate the severity of TARTs in surgery.

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