Testicular adrenal rest tumors and Leydig and Sertoli cell function in boys with classical congenital adrenal hyperplasia
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Context: Infertility observed in adult males with congenital adrenal hyperplasia (CAH) has been associated with testicular adrenal rest tumors (TART) that may originate during childhood. Objective: Our objective was to describe the prevalence of TART and Sertoli and Leydig cell function in a group of boys aged 2–10 yr with CAH and to compare prevalence with that of a control group. Design: From August 2005 to January 2007, 19 patients with classical CAH (CAH group) were referred from seven endocrinology centers. Methods: We studied 19 subjects in the CAH group and, as a control group, 13 boys from the community that did not have testicular diseases. A complete physical exam was performed. High-resolution ultrasound was used to determine TART prevalence. Inhibin B and anti-Müllerian hormone were used as Sertoli cell markers. The ratio between basal testosterone levels and testosterone levels 72 h after β-human chorionic gonadotropin (5000 U/m2) treatment [(T72− T0)/T0] was used to evaluate Leydig cell response. Results: CAH and control groups were comparable in chronological age (5.9 vs. 5.6 yr; P = 0.67) and bone age/chronological age ratio (1.09 vs. 1.03; P = 0.09). TART prevalence was four of 19 (21%) in the CAH group. Lower values for inhibin B (49.2. vs. 65.2 pg/ml; P = 0.018), anti-Müllerian hormone (70.1 vs. 94.2 ng/ml; P = 0.002), and (T72− T0)/T0 (5.6 vs. 13.6; P < 0.01) were observed in the CAH group. Conclusion: TART in prepubertal males with classic CAH could be found during childhood. We also report differences in markers of gonadal function in a subgroup of patients, especially in those with inadequate control.
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TART has also been reported in 11βOH and HSD3B2 deficiency.
“and has also been reported in 11βOH and HSD3B2 deficiency, 117-119”
From Congenital adrenal hyperplasia (2017) · cites this paper as [117]
The prevalence of testicular adrenal rest tumors in boys aged 2 to 18 years with classic CAH varies from 21% to 28%.
“The prevalence of TARTs in boys aged 2 to 18 years who have classic CAH varies from 21% to 28% (227, 251); there have been few studies describing TARTs in males with NCCAH.”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [251]
Testicular adrenal rest tumors are usually small and bilateral, not palpable, but easily detectable by ultrasound.
“TARTs are usually small and bilateral, not palpable, but easily detectable by ultrasound (227, 251).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [251]
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- Authors
- Martinez-Aguayo, A., Rocha, A., Rojas, N., García, C., Parra, R., Lagos, M., Valdivia, L., Poggi, H., & Cattani, A.
- Affiliations
- Endocrinology Unit, Department of Pediatrics (A.M.-A., A.R., A.C.)
- Pontificia Universidad Católica de Chile (CL)
- Department of Radiology and Pediatrics (C.G., R.P.)
- Molecular Biology Laboratory (M.L., L.V., H.P.), Pontificia Universidad Católica de Chile, 833-0074, Santiago, Chile
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2007-12-01
- Volume
- 92
- Issue
- 12
- Pages
- 4583-4589
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W1972363573
- Cited by
- 114
- References
- 44
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 4 · 2023: 7 · 2022: 1 · 2021: 6 · 2020: 1 · 2019: 6 · 2018: 3 · 2017: 4 · 2016: 9 · 2015: 10 · 2014: 6 · 2013: 5 · 2012: 5
- FWCI
- 3.58
- Type
- journal article
- Language
- en
- Open access
- Licence
- cc-by-nc-nd
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Universidad de Chile (submittedVersion, cc-by-nc-nd)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Keywords
- testicular adrenal rest tumor, congenital adrenal hyperplasia, Leydig cell function, Sertoli cell function, inhibin B, anti-Müllerian hormone, prepubertal boys, male infertility
- MeSH terms
- Adrenal Hyperplasia, Congenital, Adrenal Rest Tumor, Anthropometry, Child, Child, Preschool, DNA, Hormones, Humans, Inhibins, Leydig Cells, Male, Sertoli Cells, Testicular Neoplasms, Anti-Mullerian Hormone
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