Infertility and Reproductive Function in Patients with Congenital Adrenal Hyperplasia
Abstract
Individuals with congenital adrenal hyperplasia have reduced fertility. However, reproductive outcomes have improved over the years. This review provides an update on the multiple pathologic processes that contribute to reduced fertility in both sexes, from alterations of the hypothalamic-pituitary-gonadal axis to the direct effect on gonadal function by elevated circulating adrenal androgens. In addition, elevated serum progesterone concentrations may hinder ovulation and embryo implantation in women, whereas in men testicular adrenal rest tumors can be a major cause of infertility. Suppression of adrenal androgen secretion represents the first line of therapy toward spontaneous conception in both sexes.
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Suppression of follicular phase progesterone enhances the likelihood of ovulation and subsequent conception.
“suppression of follicular phase progesterone enhances the likelihood of ovulation and subsequent conception.110,111”
From Congenital adrenal hyperplasia (2017) · cites this paper as [111]
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Dumić, M., Janjanin, N., Ille, J., Žunec, R., Špehar, A., Zlopaša, G., Francetić, I., & New, M. I. (2005) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2005.18.9.887 · Cited by 30 · see citing works
Mouritsen, A., Juul, A., & Jørgensen, N. (2009) · International Journal of Andrology · doi:10.1111/j.1365-2605.2009.00958.x · Cited by 30 · see citing works
Fertility and its Complications in a Patient with Salt Losing Congenital Adrenal Hyperplasia
Zacharin, M. (1999) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.1999.12.1.89 · Cited by 27 · see citing works
Rohayem, J., Tüttelmann, F., Mallidis, C., Nieschlag, E., Kliesch, S., & Zitzmann, M. (2014) · European Journal of Endocrinology · doi:10.1530/eje-13-0449 · Cited by 26 · see citing works
Kalachanis, I., Rousso, D., Kourtis, A., Goutzioulis, F., Makedos, G. A., & Panidis, D. (2002) · Archives of Andrology · doi:10.1080/014850102753385198 · Cited by 23 · see citing works
Bilateral Ovary Adrenal Rest Tumor in a Congenital Adrenal Hyperplasia Following Adrenalectomy
Zaarour, M. G., Atallah, D. M., Trak-Smayra, V. E., & Halaby, G. (2014) · Endocrine Practice · doi:10.4158/ep13092.cr · Cited by 23 · see citing works
Krysiak, R. G., & Okopień, B. (2014) · Experimental and Clinical Endocrinology & Diabetes · doi:10.1055/s-0034-1382048 · Cited by 23 · see citing works
Mnif, M. F., Kamoun, M., Kacem, F. H., Mnif, F., Charfi, N., Naceur, B. B., Rekik, N., & Abid, M. (2013) · Indian Journal of Endocrinology and Metabolism · doi:10.4103/2230-8210.117196 · Cited by 22 · see citing works
Rae, M. T., Price, D., Harlow, C. R., Critchley, H., & Hillier, S. G. (2008) · Fertility and Sterility · doi:10.1016/j.fertnstert.2008.06.040 · Cited by 22 · see citing works
Laohaprasitiporn, C., Barbieri, R. L., & Yeh, J. (2010) · Gynecologic and Obstetric Investigation · doi:10.1159/000292273 · Cited by 20 · see citing works
Knobil, E. (2005) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2005.06.025 · Cited by 20 · see citing works
Kulshreshtha, B., Marumudi, E., Khurana, M. L., Kriplani, A., Kinra, G., Gupta, D. K., Kucheria, K., Khadgawat, R., Gupta, N., Seith, A., et al. (2008) · Gynecological Endocrinology · doi:10.1080/09513590801945230 · Cited by 20 · see citing works
Collet, T., & Pralong, F. P. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-2691 · Cited by 19 · see citing works
Reversible infertility in a man with 21-hydroxylase deficiency congenital adrenal hyperplasia
Yang, R. M., Fefferman, R. A., & Shapiro, C. E. (2005) · Fertility and Sterility · doi:10.1016/j.fertnstert.2004.08.018 · Cited by 19 · see citing works
Defects of Adrenal Steroidogenesis
Yau, M., Khattab, A., Pina, C., Yuen, T., Meyer‐Bahlburg, H. F. L., & New, M. I. (2015) · Elsevier eBooks · doi:10.1016/b978-0-323-18907-1.00104-9 · Cited by 18 · see citing works
Suescun, M., Suescun, M., Lustig, L., Rs, C., Rs, C., Groome, N., & Campo, S. (2001) · Journal of Endocrinology · doi:10.1677/joe.0.1700113 · Cited by 16 · see citing works
Infertility in a Man with 21-Hydroxylase Deficient Congenital Adrenal Hyperplasia
Mirsky, H. A., & Hines, J. H. (1989) · The Journal of Urology · doi:10.1016/s0022-5347(17)38677-9 · Cited by 14 · see citing works
Pinkas, H., Fuchs, S., Aurbach-Klipper, Y., Zvulunov, A., Raanani, H., Sheffer-Mimouni, G., Fisch, B., & Weintrob, N. (2009) · Fertility and Sterility · doi:10.1016/j.fertnstert.2008.12.037 · Cited by 13 · see citing works
Defects of Adrenal Steroidogenesis
Wajnrajch, M. P., & New, M. I. (2010) · Elsevier eBooks · doi:10.1016/b978-1-4160-5583-9.00103-9 · Cited by 10 · see citing works
Robyr, D., Llor, J., Gaudin, G., & Schneider, N. (2007) · PubMed · Cited by 8 · see citing works
Kaynar, M., Sönmez, M. G., Ünlü, Y., Karatağ, T., Tekinarslan, E., & Sümer, A. (2014) · Korean journal of urology · doi:10.4111/kju.2014.55.4.292 · Cited by 7 · see citing works
21-Hydroxylase Deficiency Associated with Male Infertility: Report of 2 Cases with Gene Analyses
Sumida, C., Kondoh, N., Kurajoh, M., Koyama, H., Tsutsumi, Z., Moriwaki, Y., & Yamamoto, T. (2011) · Internal Medicine · doi:10.2169/internalmedicine.50.5083 · Cited by 6 · see citing works
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Congenital adrenal hyperplasia
El-Maouche, D., Arlt, W., & Merke, D. P. (2017) · The Lancet · doi:10.1016/s0140-6736(17)31431-9 · Cited by 669 · see citing works
Carmina, E., Dewailly, D., Escobar-Morreale, H. F., Keleştimur, F., Morán, C., Oberfield, S. E., Witchel, S. F., & Azziz, R. (2017) · Human Reproduction Update · doi:10.1093/humupd/dmx014 · Cited by 202 · see citing works
MANAGEMENT OF ENDOCRINE DISEASE: Gonadal dysfunction in congenital adrenal hyperplasia
Claahsen-van der Grinten, H. L., Stikkelbroeck, N., Falhammar, H., & Reisch, N. (2021) · European Journal of Endocrinology · doi:10.1530/eje-20-1093 · Cited by 72 · see citing works
Pregnancy in women with nonclassic congenital adrenal hyperplasia: time to conceive and outcome
Eyal, O., Ayalon‐Dangur, I., Segev‐Becker, A., Schachter‐Davidov, A., Israel, S., & Weintrob, N. (2017) · Clinical Endocrinology · doi:10.1111/cen.13429 · Cited by 47 · see citing works
Haddad, N. G., & Eugster, E. A. (2019) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2019.04.007 · Cited by 49 · see citing works
Daae, E., Feragen, K. B., Nermoen, I., & Falhammar, H. (2018) · Endocrine · doi:10.1007/s12020-018-1723-0 · Cited by 45 · see citing works
The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum
Maher, J. Y., Gomez‐Lobo, V., & Merke, D. P. (2022) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-022-09770-5 · Cited by 40 · see citing works
Johnson, E. K., Rosoklija, I., Shurba, A., D’Oro, A., Gordon, E. J., Chen, D., Finlayson, C. A., & Holl, J. L. (2017) · Journal of Pediatric Urology · doi:10.1016/j.jpurol.2017.06.002 · Cited by 36 · see citing works
Assisted Reproduction in Congenital Adrenal Hyperplasia
Chatziaggelou, A., Sakkas, E. G., Votino, R., Papagianni, M., & Mastorakos, G. P. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00723 · Cited by 35 · see citing works
Amorini, A. M., Listorti, I., Bilotta, G., Pallisco, R., Saab, M. W., Mangione, R., Manca, B., Lazzarino, G., Tavazzi, B., Lazzarino, G., et al. (2021) · Antioxidants · doi:10.3390/antiox10020220 · Cited by 35 · see citing works
Kocova, M., Anastasovska, V., & Falhammar, H. (2020) · Endocrine · doi:10.1007/s12020-020-02323-3 · Cited by 24 · see citing works
Long‐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
Chaudhari, M., Johnson, E. K., Dajusta, D. G., & Nahata, L. (2017) · Journal of Pediatric Urology · doi:10.1016/j.jpurol.2017.11.011 · Cited by 22 · see citing works
Lajić, S., Karlsson, L., Zetterström, R. H., Falhammar, H., & Nordenström, A. (2020) · International Journal of Neonatal Screening · doi:10.3390/ijns6030068 · Cited by 22 · see citing works
Khorashad, B. S., Roshan, G. M., Reid, A. G., Aghili, Z., Hiradfar, M., Afkhamizadeh, M., Talaeı, A., Aarabi, A., Ghaemi, N., Taghehchian, N., et al. (2016) · Journal of Psychosomatic Research · doi:10.1016/j.jpsychores.2016.12.002 · Cited by 20 · see citing works
Breil, T., Yakovenko, V., Inta, I. M., Choukair, D., Klose, D., Mittnacht, J., Schulze, E., Alrajab, A., Grulich‐Henn, J., & Bettendorf, M. (2019) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2018-0298 · Cited by 20 · see citing works
The pediatric patient and future fertility: optimizing long-term male reproductive health outcomes
Nassau, D. E., Chu, K. Y., Blachman-Braun, R., Castellan, M. A., & Ramasamy, R. (2020) · Fertility and Sterility · doi:10.1016/j.fertnstert.2020.01.003 · Cited by 15 · see citing works
Clinical outcomes in 21-hydroxylase deficiency
Nordenström, A., Lajić, S., & Falhammar, H. (2021) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0000000000000625 · Cited by 15 · see citing works
Current Advances in the Management of Congenital Adrenal Hyperplasia
Bouliari, A., Bullard, F., Lin‐Su, K., & Lekarev, O. (2024) · Advances in Pediatrics · doi:10.1016/j.yapd.2024.02.006 · Cited by 7 · see citing works
Self-citationHealth 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 · see citing works
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 8 · see citing works
Reproductive Function and Fertility in Women with Congenital Adrenal Hyperplasia
Pereira, N., & Lin‐Su, K. (2018) · EMJ Reproductive Health · doi:10.33590/emjreprohealth/10314092 · Cited by 6 · see citing works
Self-citationSuccessful pregnancy and live birth in woman with congenital adrenal hyperplasia
Xiong, W., Huang, G., Wang, X., & Tan, S. (2020) · Medicine · doi:10.1097/md.0000000000023495 · Cited by 4 · see citing works
Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
New, M. I., Lekarev, O., Jacob, M., Macdonald, A., Parsa, A. A., & Yuen, T. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-821424-4.00031-9 · Cited by 4 · see citing works
Self-citationPsychological Evaluation of Patients with Congenital Adrenal Hyperplasia (CAH)
Athanasiadis, L. (2021) · Springer eBooks · doi:10.1007/978-3-030-82591-1_10 · Cited by 2 · see citing works
Fertility Treatment in Women with Classical and Nonclassical Congenital Adrenal Hyperplasia
Olga, P., & Kolibianakis, E. M. (2021) · Springer eBooks · doi:10.1007/978-3-030-82591-1_8 · Cited by 1 · see citing works
Oxidative stress and antioxidant-based therapies in male infertility
Mangione, R., Tavazzi, B., Lazzarino, G., & Lazzarino, G. (2023) · Elsevier eBooks · doi:10.1016/b978-0-443-19247-0.00010-2 · Cited by 1 · see citing works
Yu, J., Lu, S., Fang, L., Kakongoma, N., & Hu, W. (2023) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2023.12.008 · Cited by 1 · see citing works
21-hydroxylase deficiency and fertility
Amiraslanova, M. M., & Kuznetsova, I. V. (2020) · Medical alphabet · doi:10.33667/2078-5631-2020-4-16-26
Rojas, M. A. M., & Madrigal, D. G. (2020) · Revista Ciencia y Salud Integrando conocimientos · doi:10.34192/cienciaysalud.v4i4.163
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Fertility Treatment in Men with Classical and Nonclassical Congenital Adrenal Hyperplasia
Nigdelis, M. P., & Goulis, D. G. (2021) · Springer eBooks · doi:10.1007/978-3-030-82591-1_7
Função reprodutiva em portadoras de hiperplasia adrenal congênita: revisão narrativa da literatura
Cristófalo, M. M., Andrade, S. G. D. A., Andrade, F. M., & Aldrighi, J. M. (2023) · Femina · doi:10.61622/0100-72545112202307
Quota blu: infertilità (anche) maschile nell’iperplasia surrenalica congenita
Golinelli, C., Spaggiari, G., Zirilli, L., Rochira, V., & Santi, D. (2026) · L Endocrinologo · doi:10.1007/s40619-026-01746-w
Update in Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia
Bouliari, A., Lekarev, O., & Lin‐Su, K. (2026) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2026.01.001
Self-citationReproductive and fertility challenges in adolescents with congenital adrenal hyperplasia
Tschaidse, L., Auer, M. K., Nowotny, H. F., & Reisch, N. (2026) · Frontiers in Adolescent Medicine · doi:10.3389/fradm.2026.1878713
El-Taravi, Y., Ebanoidze, L. G., Vorotnikova, S. Y., Vorontsova, M. V., Игоревна, С. А., & Молашенко, Н. В. (2026) · Russian Journal of Human Reproduction · doi:10.17116/repro202632041124
Szklarz, M., Wołos-Kłosowicz, K., Szulc, J., Górny, J. M., & Matuszewski, W. (2026) · Middle East Fertility Society Journal · doi:10.1186/s43043-026-00364-8
- Authors
- Lekarev, O., Lin-Su, K., & Vogiatzi, M. G.
- Affiliations
- Weill Cornell Medicine (US)
- Children's Hospital of Philadelphia (US)
- Corresponding author
- Vogiatzi, Maria G.
- Venue
- Endocrinology and Metabolism Clinics of North America
- Publisher
- Elsevier BV
- Published
- 2015-12
- Volume
- 44
- Issue
- 4
- Pages
- 705-722
- ISSN
- 0889-8529 (ISSN-L)
- OpenAlex
- W1560791018
- Cited by
- 38
- References
- 124
- Citations by year
- 2026: 5 · 2024: 1 · 2023: 6 · 2022: 1 · 2021: 6 · 2020: 7 · 2019: 3 · 2018: 3 · 2017: 5 · 2016: 1
- FWCI
- 0.29
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Endocrinology and Metabolism Clinics of North America (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, infertility, reproductive function, hypothalamic-pituitary-gonadal axis, adrenal androgens, progesterone, ovulation, embryo implantation, testicular adrenal rest tumor, androgen deprivation therapy, infertility treatment
- MeSH terms
- Adrenal Hyperplasia, Congenital, Female, Humans, Infertility, Male
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