High prevalence of reduced fecundity in men with congenital adrenal hyperplasia
Abstract
Context: Testicular adrenal rest tumors (TARTs) are regarded to contribute to the high prevalence of subfertility in males with congenital adrenal hyperplasia (CAH). Objectives: Our objectives were to evaluate reduced fecundity and its possible causes in well-controlled adult males with CAH, and to investigate diagnostic tools for improved treatment monitoring with respect to fertility outcomes. Design: In a cross-sectional study at the Department of Endocrinology at the University Hospital München, Germany, 22 adult male CAH patients (15 salt wasting and seven simple virilizing, age 19–48 yr) were clinically assessed according to their hormonal control. We performed testicular ultrasound (22 of 22), magnetic resonance imaging (18 of 22), and a semen analysis (19 of 22) in the participants. Results: All patients had a pathological semen analysis. TART prevalence was 10 of 22 (eight salt wasting, two simple virilizing). Poor therapy control was present in five patients, and all five had TARTs. Of the other 17 well-controlled patients with normal or suppressed adrenal androgens and 17-hydroxyprogesterone levels, five presented with TARTs. There was a significant correlation between sperm concentration and functional testicular volume (r = 0.70; P = 0.002), TART volume (r = −0.70; P = 0.036), as well as inhibin B levels (r = 0.75; P < 0.0001), respectively. In several men, hormonal control parameters suggested hypogonadism, with glucocorticoid overtreatment as a relevant factor for poor semen quality. Conclusions: Poor semen parameters are common in male CAH patients. TARTs, most likely reflecting undertreatment, as well as inhibin B are important indicators of fecundity. On the other hand, long-term glucocorticoid overtreatment also seems to contribute to low semen quality.
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In the virilizing forms of CAH, excess adrenal sex steroids can lead to hypogonadotropic hypogonadism and increased progesterone can interfere with endometrial implantation.
“In the virilizing forms of CAH, excess adrenal sex steroids can lead to hypogonadotropic hypogonadism 106,107 and increased progesterone can interfere with endometrial implantation.108,109”
From Congenital adrenal hyperplasia (2017) · cites this paper as [106]
Low inhibin B levels reflect declining Sertoli cell function and can be used to monitor.
“Low inhibin B levels reflect declining Sertoli cell function and can be used to monitor.106”
From Congenital adrenal hyperplasia (2017) · cites this paper as [106]
Fertility in males with CAH is often impaired.
“Fertility in males with CAH is often impaired (226, 237, 248-250).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [248]
Testicular adrenal rest tumors have no malignant features but can lead to obstructive azoospermia and infertility.
“TARTs have no malignant features but can lead to obstructive azoospermia and infertility (248).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [248]
The presence of testicular adrenal rest tumors is a predictor of infertility.
“The presence of TARTs is a predictor of infertility (226, 248, 253).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [248]
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“…521–527 525 but at an older age than men in group Null or A. Recently, Reisch et al. described the presence of TART in two adult CAH patients (aged 37 and 40 years, respectively) who were categorized as having milder mutations (group B), thereby supporting our hypothesis (Reisch et al., 2009).”
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“Thus, also in males with CAH the fertility rate was markedly reduced [38,73,97-100].”
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“This result supports the current perception that TARTs occur more frequently in patients affected by more severe forms of CAH because these patients are exposed to higher levels of ACTH, which is a possible causative factor for TART development (29,38,40,41).”
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“Importantly, glucocorticoid overdosing can also result in reduced fecundity due secondary hypogonadism [52].”
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Testicular Adrenal Rest Tumors in Patients with Congenital Adrenal Hyperplasia
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“(3) Patient 12 is still on leuprolide acetate, cyproterone acetate and growth hormone therapy.”
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Sarafoglou, K., Merke, D. P., Reisch, N., der Grinten, H. L. C., Falhammar, H., & Auchus, R. J. (2023) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgad134 · Cited by 31 · see citing works
Self-citationCongenital adrenal hyperplasia in adults
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Novel treatment strategies in congenital adrenal hyperplasia
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Prevalence of Testicular Adrenal Rest Tissue in Neonates
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Congenital adrenal hyperplasia
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“This percentage is higher than that in recent reports [4, 14, 17-19] except for the study of Stikkelbroeck et al.”
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“Similarly, the size of a TART can differ according to the type of CAH (Reisch et al., 2009).”
BackgroundResultLong‐term health consequences of congenital adrenal hyperplasia
Pofi, R., Ji, X., Krone, N. P., & Tomlinson, J. (2023) · Clinical Endocrinology · doi:10.1111/cen.14967 · Cited by 24 · see citing works
“34,71 However, the frequency of semen analysis again varies based on clinical judgement.”
Substitution therapy in adult patients with congenital adrenal hyperplasia
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“2001, New 2001, Reisch et al .”
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Hormone-Based Treatments in Subfertile Males
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“Adrenal androgens may also be peripherally aromatized to estrogens, which can also disrupt spermatogenesis [29].”
BackgroundGrowth and Reproductive Outcomes in Congenital Adrenal Hyperplasia
Nebesio, T. D., & Eugster, E. (2010) · International Journal of Pediatric Endocrinology · doi:10.1186/1687-9856-2010-298937 · Cited by 22 · see citing works
Auer, M. K., Paizoni, L., Neuner, M., Lottspeich, C., Schmidt, H., Bidlingmaier, M., Hawley, J. M., Keevil, B. G., & Reisch, N. (2021) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2021.105921 · Cited by 21 · see citing works
“In line, presence of TART has been associated with poor treatment quality in some [8] but not all studies [9,40].”
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Challenges Waiting for an Adult with DSD
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“The chronological association of TART disappearance with pregnancy suggests that mechanical obstruction on seminal tubules might have caused this patient’s infertility, although gonadal axis suppression may also have contributed to infertility, as discussed recently (3, 4).”
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Congenital Adrenal Hyperplasia
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“This complication, also known as testicular adrenal rest tumor, occurs in almost all affected males due to adrenal rests in the testes, and is often accompanied by impaired spermatogenesis and Leydig cell failure (41,42).”
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Chapter 19 – Testicular Disorders
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“Reduced fecundity is common in men with classic congenital adrenal hyperplasia (CAH) [1].”
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Primary and Secondary Hypogonadism
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Self-citationTesticular Adrenal Rest Tumor (TART) in congenital adrenal hyperplasia
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COVID-19 and its treatments: lights and shadows on testicular function
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“Thus, the serum testosterone in CAH is a function of the extent of testicular TART expansion [33, 34].”
Background
- Authors
- Reisch, N., Flade, L., Scherr, M., Rottenkolber, M., Pedrosa Gil, F., Bidlingmaier, M., Wolff, H., Schwarz, H.-P., Quinkler, M., Beuschlein, F., & Reincke, M.
- Affiliations
- Ludwig-Maximilians-Universität München (DE)
- LMU Klinikum (DE)
- Psychosomatic Ambulance and Outpatient Clinic (F.P.G.), University Hospital München, D-80336 München, Germany
- München Klinik (DE)
- Charité – Universitätsmedizin Berlin (DE)
- Endocrinology and Metabolism (N.R., L.F., M.B., F.B., M.Re.), University Hospital München, D-80336 München, Germany
- Corresponding author
- Reisch, Nicole
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2009-05-01
- Volume
- 94
- Issue
- 5
- Pages
- 1665-1670
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W1981718662
- Cited by
- 170
- References
- 22
- Citations by year
- 2026: 6 · 2025: 2 · 2024: 6 · 2023: 5 · 2022: 8 · 2021: 9 · 2020: 9 · 2019: 12 · 2018: 6 · 2017: 12 · 2016: 13 · 2015: 12 · 2014: 11 · 2013: 15 · 2012: 15
- FWCI
- 5.72
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- 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
- congenital adrenal hyperplasia, male subfertility, testicular adrenal rest tumor, semen quality, hypogonadism, inhibin B, 17-hydroxyprogesterone, salt wasting, simple virilizing CAH, testicular volume
- MeSH terms
- Adrenal Hyperplasia, Congenital, Adrenal Rest Tumor, Adult, Fertility, Follicle Stimulating Hormone, Hormones, Humans, Infertility, Male, Inhibins, Leydig Cells, Luteinizing Hormone, Male, Middle Aged, Saliva, Semen, Sperm Count, Spermatogenesis, Testis, Testosterone, Ultrasonography, Cohort Studies, Treatment Outcome, Young Adult
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