Fertility outcome and information on fertility issues in individuals with different forms of disorders of sex development: findings from the dsd-LIFE study
Open accessAbstract
Objective To investigate fertility outcome in individuals with different forms of disorders of sex development (DSD), if assisted reproductive technology (ART) was used, and the patients' satisfaction with the information they had received.Design A cross-sectional multicenter study, dsd-LIFE.Setting Not applicable.Patient(s) A total of 1,040 patients aged ≥16 years with different DSD diagnoses participated.Intervention(s) A web-based questionnaire was filled out by all participants. The participants could chose to take part in somatic investigations including ultrasonography.Main outcome measure(s) Information on partner, number of children, ART, adoption and step-children, general health, presence of gonads and uterus, current education and economic situation, received information on fertility issues, and satisfaction with the information, was collected.Result(s) In the total cohort, mean age 32 years, 33% lived with a partner, but only 14% reported having at least one child including 7% with ART, 4% adopted. Only 3.5% of the total cohort had been able to reproduce without ART, most frequently women with congenital adrenal hyperplasia, and only 0.7% of participants with other diagnoses. Of the participants, 72% had received information on fertility, but 17% were not satisfied with the information.Conclusion(s) Fertility outcome is significantly reduced in all types of DSD; however, fertility potential should be assessed individually. The satisfaction with how fertility problems have been discussed can be improved. The care of patients with DSD is complex, should be individualized, and new treatment possibilities incorporated. A close collaboration in multidisciplinary teams is therefore essential to improve the situation for individuals with DSD.
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Due to ovarian insufficiency, most individuals with TS are infertile, with spontaneous pregnancies occurring in about 10%.
“Due to ovarian insufficiency, most individuals with TS are infertile, with spontaneous pregnancies occurring in about 10%.11,511,561-564”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [564]
Cites
Consensus Statement on Management of Intersex Disorders
Lee, P. A., Houk, C. P., Ahmed, S. F., Hughes, I. A., & in collaboration with the participants in the International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology (2006) · Pediatrics · doi:10.1542/peds.2006-0738 · Cited by 2,324 · see citing works
Lanfranco, F., Kamischke, A., Zitzmann, M., & Nieschlag, E. (2004) · The Lancet · doi:10.1016/s0140-6736(04)16678-6 · Cited by 1,009 · see citing works
Ahmed, S. F., Cheng, A. W.-F., Dovey, L., Hawkins, J. R., Martin, H., Rowland, J., Shimura, N., Tait, A. D., & Hughes, I. A. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.2.6337 · Cited by 315 · see citing works
Ahmed, S. F. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.85.2.658 · Cited by 267 · see citing works
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease
Suntharalingham, J. P., Buonocore, F., Duncan, A. J., & Achermann, J. C. (2015) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2015.07.004 · Cited by 233 · see citing works
Tumor Risk in Disorders of Sex Development
Pleskacova, J., Hersmus, R., Oosterhuis, J. W., Setyawati, B. A., Faradz, S. M., Cools, M., Wolffenbuttel, K. P., Lebl, J., Drop, S. L. S., & Looijenga, L. H. J. (2010) · Sexual Development · doi:10.1159/000314536 · Cited by 215 · see citing works
Normal male sexual differentiation and aetiology of disorders of sex development
Rey, R. A., & Grinspon, R. P. (2011) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2010.08.013 · Cited by 208 · see citing works
Aksglæde, L., & Juul, A. (2013) · European Journal of Endocrinology · doi:10.1530/eje-12-0934 · Cited by 198 · see citing works
Johansen, M. L., Hagen, C. P., Meyts, E. R., Kjærgaard, S., Petersen, B. L., Skakkebæk, N. E., Main, K. M., & Juul, A. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-1388 · Cited by 193 · see citing works
CAMERON, F., & STANHOPE, R. (1997) · Archives of Disease in Childhood · doi:10.1136/adc.77.5.463h · Cited by 192 · see citing works
Gastaud, F., Bouvattier, C. M., Duranteau, L., Brauner, R., Thibaud, E., Kutten, F., & Bougneres, P. F. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-1757 · Cited by 187 · see citing works
Self-citationRohayem, J., Fricke, R., Czeloth, K., Mallidis, C., Wistuba, J., Krallmann, C., Zitzmann, M., & Kliesch, S. (2015) · Andrology · doi:10.1111/andr.12067 · Cited by 146 · see citing works
Plotton, I., d’Estaing, S. G., Cuzin, B., Brosse, A., Benchaïb, M., Lornage, J., Écochard, R., Dijoud, F., Lejeune, H., & FERTIPRESERVE group (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-3083 · Cited by 137 · see citing works
Krone, N., Wachter, I., Stefanidou, M., Roscher, A. A., & Schwarz, H. P. (2001) · Clinical Endocrinology · doi:10.1046/j.1365-2265.2001.01359.x · Cited by 135 · see citing works
Androgen Insensitivity Syndrome
Werner, R., Bunch, T., Hiort, O., et al. (2012) · Seminars in Reproductive Medicine · doi:10.1055/s-0032-1324728 · Cited by 129 · see citing works
Präg, P., & Mills, M. C. (2017) · Demographic research monographs · doi:10.1007/978-3-319-44667-7_14 · Cited by 127 · see citing works
Martinerie, L., Morel, Y., Gay, C.-L., Pienkowski, C., de Kerdanet, M., Cabrol, S., Lecointre, C., Coutant, R., Baron, S., Colle, M., et al. (2012) · European Journal of Endocrinology · doi:10.1530/eje-11-0756 · Cited by 115 · see citing works
Self-citationManaging the Risk of Germ Cell Tumourigenesis in Disorders of Sex Development Patients
Cools, M., Looijenga, L. H. J., Wolffenbuttel, K. P., & T'Sjoen, G. G. (2014) · Endocrine development · doi:10.1159/000363642 · Cited by 114 · see citing works
Care of women with XY karyotype: a clinical practice guideline
Jørgensen, P. B., Kjartansdóttir, K. R., & Fedder, J. (2009) · Fertility and Sterility · doi:10.1016/j.fertnstert.2009.02.087 · Cited by 114 · see citing works
Strandqvist, A., Falhammar, H., Lichtenstein, P., Hirschberg, A. L., Wedell, A., Norrby, C., Nordenskjöld, A., Frisén, L., & Nordenström, A. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-3326 · Cited by 111 · see citing works
Pregnancy in True Hermaphrodites and All Male Offspring to Date
Schultz, B. A. H., Roberts, S., Rodgers, A. K., et al. (2009) · Obstetrics and Gynecology · doi:10.1097/aog.0b013e3181866456 · Cited by 110 · see citing works
Childbearing desires of childless men and women: When are goals adjusted?
Gray, E., Evans, A., & Reimondos, A. (2013) · Advances in Life Course Research · doi:10.1016/j.alcr.2012.09.003 · Cited by 110 · see citing works
From Gonocytes to Testicular Cancer
Meyts, E. R., & Hoei‐Hansen, C. E. (2007) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1411.013 · Cited by 106 · see citing works
King, T., & Conway, G. S. (2014) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0000000000000113 · Cited by 103 · see citing works
Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia
Parsa, A. A., & New, M. I. (2016) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2016.06.015 · Cited by 100 · see citing works
46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency
Mendonca, B. B., Gomes, N. L., Costa, E. M. F., Inácio, M., Martin, R. M., Nishi, M. Y., Carvalho, F. M., Tibor, F. D., & Domenice, S. (2016) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2016.05.002 · Cited by 99 · see citing works
Chemes, H., Muzulin, P. M., Venara, M. C., et al. (2003) · Apmis · doi:10.1034/j.1600-0463.2003.1110104.x · Cited by 88 · see citing works
Successful pregnancy in a gonadectomized woman with 46,XY gonadal dysgenesis and gonadoblastoma
Chen, M., Yang, J., Mao, T.-L., et al. (2005) · Fertility and Sterility · doi:10.1016/j.fertnstert.2004.11.087 · Cited by 79 · see citing works
Finlayson, C. A., Fritsch, M. K., Johnson, E. K., Rosoklija, I., Gosiengfiao, Y., Yerkes, E. B., Madonna, M. B., Woodruff, T. K., & Cheng, E. Y. (2016) · The Journal of Urology · doi:10.1016/j.juro.2016.08.108 · Cited by 79 · see citing works
Successful pregnancy in a patient with a 46,XY karyotype
Selvaraj, K., Ganesh, V. V., & Selvaraj, P. (2002) · Fertility and Sterility · doi:10.1016/s0015-0282(02)03242-9 · Cited by 77 · see citing works
The effect of 5α-reductase-2 deficiency on human fertility
Kang, H., Imperato‐McGinley, J., Zhu, Y., & Rosenwaks, Z. (2014) · Fertility and Sterility · doi:10.1016/j.fertnstert.2013.11.128 · Cited by 76 · see citing works
Fertility in disorders of sex development: A review
Batavia, J. V., & Kolon, T. F. (2016) · Journal of Pediatric Urology · doi:10.1016/j.jpurol.2016.09.015 · Cited by 71 · see citing works
on behalf of the dsd-LIFE group, Röhle, R., Gehrmann, K., Szarras‐Czapnik, M., der Grinten, H. L. C., Pienkowski, C., Bouvattier, C. M., Cohen‐Kettenis, P. T., Nordenström, A., Thyen, U., et al. (2017) · BMC Endocrine Disorders · doi:10.1186/s12902-017-0198-y · Cited by 69 · see citing works
Self-citationWu, Q., Li, N., Li, W., et al. (2014) · BMC Urology · doi:10.1186/1471-2490-14-70 · Cited by 64 · see citing works
46,XX DSD: the masculinised female
Auchus, R. J., & Chang, A. Y. (2010) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2009.11.001 · Cited by 63 · see citing works
Słowikowska‐Hilczer, J., Romer, T. E., & Kula, K. (2003) · Journal of Andrology · doi:10.1002/j.1939-4640.2003.tb02672.x · Cited by 62 · see citing works
Self-citationCongenital Adrenal Hyperplasia due to 3β-Hydroxysteroid Dehydrogenase/ Δ5-Δ4Isomerase Deficiency
Simard, J., Moisan, A. M., & Morel, Y. (2002) · Seminars in Reproductive Medicine · doi:10.1055/s-2002-35373 · Cited by 62 · see citing works
Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development
Miller, W. L., & Auchus, R. J. (2012) · Seminars in Reproductive Medicine · doi:10.1055/s-0032-1324726 · Cited by 61 · see citing works
Brännström, M. (2015) · Current Opinion in Organ Transplantation · doi:10.1097/mot.0000000000000246 · Cited by 58 · see citing works
Androgen insensitivity and male infertility1
Hiort, O., & Holterhus, P. (2003) · International Journal of Andrology · doi:10.1046/j.1365-2605.2003.00369.x · Cited by 57 · see citing works
The risk of neoplasm associated with dysgenetic testes in prepubertal and pubertal/adult patients
Słowikowska‐Hilczer, J., Szarras‐Czapnik, M., Wolski, J. K., et al. (2015) · Folia Histochemica et Cytobiologica · doi:10.5603/fhc.a2015.0021 · Cited by 40 · see citing works
Self-citationJiang, J.-F., Xue, W., Deng, Y., et al. (2015) · Gynecological Endocrinology · doi:10.3109/09513590.2015.1116509 · Cited by 38 · see citing works
45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction
Flannigan, R. K., Chow, V. D. W., Ma, S., et al. (2014) · Canadian Urological Association Journal · doi:10.5489/cuaj.1574 · Cited by 36 · see citing works
Fertility and Pregnancy in Turner Syndrome
Bouet, P., Godbout, A., Hachem, H. E., Lefebvre, M., Bérubé, L., Dionne, M.-D., Kamga-Ngandé, C., & Lapensée, L. (2016) · Journal of Obstetrics and Gynaecology Canada · doi:10.1016/j.jogc.2016.02.007 · Cited by 33 · see citing works
Morphometry and Histology of Gonads From 13 Children With Dysgenetic Male Pseudohermaphroditism
Scolfaro, M. R., Cardinalli, I. A., Stuchi-Perez, E. G., et al. (2001) · Archives of Pathology & Laboratory Medicine · doi:10.5858/2001-125-0652-mahogf · Cited by 30 · see citing works
Fertility Issues in the Management of Patients with Disorders of Sex Development
Guercio, G., & Rey, R. A. (2014) · Endocrine development · doi:10.1159/000363633 · Cited by 28 · see citing works
Pregnancy in a hermaphrodite with a male-predominant mosaic karyotype
Schoenhaus, S. A., Lentz, S. E., Saber, P. A., et al. (2008) · Fertility and Sterility · doi:10.1016/j.fertnstert.2008.01.104 · Cited by 24 · see citing works
Massin, N., Bry, H., Vija, L., et al. (2012) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2012.04402.x · Cited by 24 · see citing works
Cutas, D., & Hens, K. (2014) · Medicine Health Care and Philosophy · doi:10.1007/s11019-014-9596-3 · Cited by 23 · see citing works
Reprint of “Steroid 5α-reductase 2 deficiency”
Mendonca, B. B., Batista, R. L., Domenice, S., Costa, E. M. F., Arnhold, I. J. P., Russell, D. W., & Wilson, J. D. (2016) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2016.11.006 · Cited by 15 · see citing works
Male fertility preservation, where are we in 2014?
Goossens, E., & Tournaye, H. J. (2014) · Annales d Endocrinologie · doi:10.1016/j.ando.2014.03.011 · Cited by 11 · see citing works
Poláková, M., Alexander, D., Šulc, J., et al. (2013) · PubMed · Cited by 4 · see citing works
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- Authors
- Słowikowska-Hilczer, J., Hirschberg, A. L., Claahsen-van der Grinten, H., Reisch, N., Bouvattier, C., Thyen, U., Cohen Kettenis, P., Roehle, R., Köhler, B., Nordenström, A., Kohler, B., Cohen-Kettenis, P., de Vries, A., Arlt, W., Wiesemann, C., Slowikowska-Hilczer, J., de la Perriere, A. B., Sultan, C., Paris, F., Bouvattier, C., Thyen, U., Reisch, N., Richter-Unruh, A., Claahsen-van der Grinten, H., Nordenstrom, A., Pienkowski, C., & Szarras-Czapnik, M.
- Affiliations
- Karolinska University Hospital (SE)
- Charité – Universitätsmedizin Berlin (DE)
- Centre Hospitalier Universitaire de Montpellier (FR)
- ORCID
- Venue
- Fertility and Sterility
- Publisher
- Elsevier BV
- Published
- 2017-11
- Volume
- 108
- Issue
- 5
- Pages
- 822-831
- ISSN
- 0015-0282 (ISSN-L)
- OpenAlex
- W2756111426
- Cited by
- 98
- References
- 52
- Citations by year
- 2026: 10 · 2025: 17 · 2024: 15 · 2023: 8 · 2022: 8 · 2021: 10 · 2020: 12 · 2019: 10 · 2018: 6 · 2017: 1 · 2014: 1
- FWCI
- 3.24
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Fertility and Sterility (publishedVersion)
- PubMed (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- HAL (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Social Sciences › Psychology › Social Psychology › LGBTQ Health, Identity, and Policy
- Health Sciences › Medicine › Reproductive Medicine › Reproductive Health and Technologies
- Keywords
- disorders of sex development, fertility outcomes, assisted reproduction, patient satisfaction, congenital adrenal hyperplasia, adoption, reproductive capacity, multidisciplinary care
- MeSH terms
- Adolescent, Adoption, Adult, Aged, Cross-Sectional Studies, Europe, Female, Fertility, Humans, Infertility, Female, Infertility, Male, Health Knowledge, Attitudes, Practice, Male, Middle Aged, Parents, Patient Education as Topic, Phenotype, Pregnancy, Surveys and Questionnaires, Disorders of Sex Development, Patient Satisfaction, Genetic Predisposition to Disease, Access to Information, Reproductive Techniques, Assisted, Young Adult, Reproductive Health
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