The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
Reassessing fecundity in women with classical congenital adrenal hyperplasia (CAH): normal pregnancy rate but reduced fertility rate
Abstract
Summary: Objective Fertility in women with classical congenital adrenal hyperplasia (CAH) has been reported low; however, the true pregnancy rate for women trying to conceive with this condition is unknown. Our aim was to calculate pregnancy rate for women with CAH calculated as a proportion of those who had attempted conception. Fertility expressed as live birth rate is also calculated. Patients One hundred and six women with classical CAH followed in a multidisciplinary service [81 salt‐losing (SL) and 25 nonsalt‐losing (NSL) form]. Results Twenty‐five (23·6%) women with CAH women considered motherhood, 23 had actively tried conception of whom 21 (91·3%) achieved 34 pregnancies. Pregnancy rate is no different from that in the normal population (95%). Pregnancy rates were similar in the SL (88·9%) and NSL (92·9%) subgroups but those with NSL‐CAH were more likely to seek motherhood than those with SL‐CAH (16/25 vs. 9/81). Optimized glucocorticoid and mineralocorticoid regimes during fertility monitoring resulted spontaneous conception in nearly all recent cases. Fertility rate was 0·25 live births per woman compared with 1·8 in the UK population ( P < 0·001). Conclusion We report a normal pregnancy rate (91·3%) for women with classical CAH, similar in SL and NSL subgroups. Fertility rate, however, remains much lower than in general population.
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In the citing paper
“suppression of follicular phase progesterone enhances the likelihood of ovulation and subsequent conception.110,111”
From Congenital adrenal hyperplasia (2017) · cites this paper as [110]
In the citing paper
“Several studies have shown that, for a variety of reasons, only a minority of women with classic CAH try to conceive (225, 257).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [225]
In the citing paper
“Those who wish to conceive can achieve nearly normal pregnancy rates with adequate suppression of follicular-phase progesterone (,0.6 ng/ mL = 2 nmol/L, Table 5) (225) by optimizing GC and MC treatments.”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [225]
In the citing paper
“Caesarean section is the most common method of delivery due to the high prevalence of previous vaginal surgery and cephalopelvic disproportion, although vaginal delivery has been reported in 16% to 42% of women, nearly all of whom had a non-salt-wasting phenotype (225, 257).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [225]
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“In a report of 106 women with CAH from the United Kingdom [87], 21 of 23 trying to conceive achieved 34 pregnancies, which calculates to a pregnancy rate of 91.”
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Gomez‐Lobo, V., Oelschlager, A. A., & for the North American Society for Pediatric and Adolescent Gynecology (2016) · Obstetrics and Gynecology · doi:10.1097/aog.0000000000001672 · Cited by 29
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“With appropriate hormone replacement therapy, affected females can become pregnant (Casteràs et al. 2009).”
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“If one considers that 95% of these patients when properly managed from the endocrinological and surgical points of view will have a female gender identity (10) and potential for sexual activity (11) and normal conception rates, if not always fertility (12), it is difficult to comprehend how controversies about gender…”
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“89,92,93 Adequate suppression of adrenal progestins ( 2nmol/L in the follicular phase 93 ), as well as androgens, has been suggested to be crucial in achieving regular menstrual cycle and improving fertility in females with CAH.”
Substitution therapy in adult patients with congenital adrenal hyperplasia
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Russian clinical practice guidelines «congenital adrenal hyperplasia»
Mokrysheva, N. G., Mel'nichenko, G. A., Adamyan, L. V., Troshina, E. A., Молашенко, Н. В., Игоревна, С. А., Uvarova, E. V., Esayan, E. R. M., Andreeva, E. N., Ужегова, Ж. А., et al. (2021) · Obesity and metabolism · doi:10.14341/omet12787 · Cited by 28
Dwiggins, M. L., Brookner, B., Fowler, K. G., Veeraraghavan, P., Gomez‐Lobo, V., & Merke, D. P. (2020) · Journal of the Endocrine Society · doi:10.1210/jendso/bvaa131 · Cited by 23
Guo, X., Zhang, Y., Yu, Y., Zhang, L., Ullah, K., Ji, M., Jin, B., & Shu, J. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.982953 · Cited by 20
Challenges Waiting for an Adult with DSD
Nowotny, H. F., & Reisch, N. (2022) · Hormone Research in Paediatrics · doi:10.1159/000527433 · Cited by 24
Congenital Adrenal Hyperplasia
Speiser, P. (2015) · F1000Research · doi:10.12688/f1000research.6543.1 · Cited by 18
Management of the Adult with Congenital Adrenal Hyperplasia
Auchus, R. J. (2010) · International Journal of Pediatric Endocrinology · doi:10.1155/2010/614107 · Cited by 19
“Restoration of fertility in women [46, 60] and men [61] with 21-OHD after bilateral or unilateral adrenalectomy, respectively, has been observed and should be considered as an alternative approach.”
Choi, J., & Yoo, H. (2017) · Korean Journal of Pediatrics · doi:10.3345/kjp.2017.60.2.31 · Cited by 17
Identity, sexuality, and parenthood in women with congenital adrenal hyperplasia
Engberg, H., Möller, A., Hagenfeldt, K., Nordenskjöld, A., & Frisén, L. (2020) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2020.05.005 · Cited by 15
Engberg, H., Nordenström, A., & Hirschberg, A. L. (2024) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae696 · Cited by 13
Concolino, P., & Falhammar, H. (2025) · Journal of the Endocrine Society · doi:10.1210/jendso/bvaf018 · Cited by 12
“However, it should be noted that among women with CAH who wish to become mothers, there were no significant differences between the SW and SV forms [92].”
Controverses et challenges sur le développement sexuel différent (DSD)
Bessiène, L., Lombès, M., & Bouvattier, C. M. (2018) · Annales d Endocrinologie · doi:10.1016/s0003-4266(18)31235-6 · Cited by 12
Auer, M. K., Minea, C. E., Quinkler, M. O., Bancos, I., Beuschlein, F., Meyer, G., Lottspeich, C., Bidlingmaier, M., Rieger, E., Nowotny, H. F., et al. (2024) · Journal of the Endocrine Society · doi:10.1210/jendso/bvae211 · Cited by 11
“Casteras et al [25] found that only 23.6% of 106 women diagnosed with classic CAH expressed a desire for pregnancy, whereas Bidet et al [26] re-ported that half of the 190 women with NC CAH harbored such aspirations.”
InfluentialDörr, H. G., Heß, J., Penger, T., Marx, M., & Oppelt, P. G. (2018) · BMC Pregnancy and Childbirth · doi:10.1186/s12884-018-2091-8 · Cited by 11
“Women with classic CAH have lower fertility rates compared to general population [13, 14, 19, 20].”
BackgroundCongenital adrenal hyperplasia in pregnancy: approach depends on who is the ‘patient’
Keely, E., & Malcolm, J. (2012) · Obstetric Medicine · doi:10.1258/om.2012.120015 · Cited by 10
Prenatal and Pregnancy Management of Congenital Adrenal Hyperplasia
Nowotny, H. F., Tschaidse, L., Auer, M. K., & Reisch, N. (2024) · Clinical Endocrinology · doi:10.1111/cen.15131 · Cited by 11
“More recent studies report comparable or slightly lower pregnancy rates in women with CAH who desire motherhood [32].”
InfluentialBancos, I., Kim, H., Cheng, H. K.-H., Rodrı́guez-Lee, M., Coope, H., Cicero, S., Goldsmith, H., Lin, V. H., & Jeha, G. S. (2025) · Expert Review of Endocrinology & Metabolism · doi:10.1080/17446651.2025.2450423 · Cited by 7
The impact of genetic steroid disorders on human fertility
Reichman, D., & Rosenwaks, Z. (2016) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2016.04.014 · Cited by 8
The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family
Kočova, M., Anastasovska, V., & Bitovska, I. (2019) · European journal of medical research · doi:10.1186/s40001-019-0379-4 · Cited by 7
“Some authors try high doses of corticosteroids to suppress progesterone [28].”
BackgroundHealth problems of adolescent and adult patients with 21-hydroxylase deficiency
Tajima, T. (2018) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.27.203 · Cited by 7
Fertility Issues in Pediatric Urology
Kieran, K., & Shnorhavorian, M. (2018) · Urologic Clinics of North America · doi:10.1016/j.ucl.2018.06.006 · Cited by 7
Congenital adrenal hyperplasia
Krone, N. P., & Hughes, I. A. (2020) · doi:10.1093/med/9780198746690.003.0250 · Cited by 7
Congenital adrenal hyperplasia and pregnancy
Shorakae, S., & Teede, H. J. (2013) · BMJ Case Reports · doi:10.1136/bcr-2013-010299 · Cited by 7
Lao, Q., Schulman, A., Kulkarni, S., Kollender, S., Bick, D., Moon, A., Burkardt, D. D., & Merke, D. P. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaf546 · Cited by 6
Sandberg, D. E., Gardner, M., & Lapham, Z. K. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae668 · Cited by 6
Fertility and pregnancy in adrenal insufficiency
Green, D., Dineen, R., O’Reilly, M., & Sherlock, M. (2023) · Endocrine Connections · doi:10.1530/ec-23-0088 · Cited by 9
“Optimising mineralocorticoid treatment has been shown to improve fertility in salt-wasting and simple virilising CAH patients ( 71 , 77 ).”
BackgroundWitchel, S. F., & Lee, P. A. (2014) · Elsevier eBooks · doi:10.1016/b978-1-4557-4858-7.00014-7 · Cited by 5
Metadata
- Authors
- Casteràs, A., De Silva, P., Rumsby, G., & Conway, G. S.
- Affiliations
- University College Hospital (GB)
- Corresponding author
- Conway, Gerard S.
- Venue
- Clinical Endocrinology
- Publisher
- Wiley
- Published
- 2009-05-13
- Volume
- 70
- Issue
- 6
- Pages
- 833-837
- ISSN
- 0300-0664 (ISSN-L)
- 1365-2265
- OpenAlex
- W2028550929
- Cited by
- 190
- References
- 25
- Citations by year
- 2026: 8 · 2025: 12 · 2024: 7 · 2023: 13 · 2022: 17 · 2021: 14 · 2020: 12 · 2019: 9 · 2018: 9 · 2017: 8 · 2016: 11 · 2015: 10 · 2014: 8 · 2013: 18 · 2012: 11
- FWCI
- 4.56
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- National Institute for Health and Care Research
- University College London Hospitals NHS Foundation Trust
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › 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
- classical congenital adrenal hyperplasia, female fertility, pregnancy rate, live birth rate, glucocorticoid therapy, mineralocorticoid therapy, fertility monitoring, spontaneous conception
- MeSH terms
- Adolescent, Adrenal Hyperplasia, Congenital, Adult, Birth Rate, Female, Fertility, Follow-Up Studies, Humans, Middle Aged, Pregnancy, Cohort Studies, Pregnancy Rate, Young Adult
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