Adult women with 21-hydroxylase deficient congenital adrenal hyperplasia, surgical and psychological aspects

Nordenström, Anna

doi:10.1097/mop.0b013e32834810a4

Cited by 42Sexual Differentiation and DisordersAdrenal Hormones and DisordersLGBTQ Health, Identity, and Policy

Adult women with 21-hydroxylase deficient congenital adrenal hyperplasia, surgical and psychological aspects

Nordenström, Anna·2011·Current Opinion in Pediatrics

DOI 10.1097/mop.0b013e32834810a4

Open this paper in CoChat — free account

Abstract

PURPOSE OF REVIEW: Congenital adrenal hyperplasia (CAH) due to a CYP21A2 deficiency results in prenatal androgen exposure and virilization of the external genitalia. The surgical procedures, indications, timing, and methods used have come under debate during the past decade. The androgen effect on later behaviors adds to the complexity of the situation for these women. The purpose of this review is to update physicians on recent findings regarding the outcome of feminizing surgery, infertility, quality of life (QoL), and psychosexual aspects in women with CAH. RECENT FINDINGS: Surgical outcome, also for the more modern techniques used today, has not been entirely satisfactory and QoL assessments paint a dark picture. All psychological effects assessed show a spectrum of severity correlating with the CYP21A2 genotype or disease severity. The prevailing recommendation for sex of rearing is to let all patients with the 46,XX karyotype grow up as girls. This notion has now been challenged regarding patients with the most extreme virilization of genitalia. SUMMARY: There are large differences in outcome depending on the severity of the disease or CYP21A2 mutation. Care needs to be individualized and centralized to specialized multidisciplinary teams. Feminizing surgery is still not satisfactory for all patients. More studies regarding sex identity are needed.

Integrity signals

Registry

Crossref · 10.1097/mop.0b013e32834810a4

Cites

49 of 49 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Although enzyme function in vitro appears to be similar, clinical observations suggest that patients carrying the P30L allele are somewhat more symptomatic, straddling the border between SV and NC forms of CAH.
“Although enzyme function in vitro appears to be similar (111), clinical observations suggest that patients carrying the P30L allele are somewhat more symptomatic, straddling the border between SV and NC forms of CAH (213,222).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [222]

Consensus statement on management of intersex disorders
Hughes, I. A. (2005) · Archives of Disease in Childhood · doi:10.1136/adc.2006.098319 · Cited by 1,414 · see citing works
Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients
Arlt, W., Willis, D. S., Wild, S. H., Krone, N., Doherty, E. J., Hahner, S., Han, T. S., Carroll, P. V., Conway, G. S., Rees, D. A., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-0917 · Cited by 506 · see citing works
Androgen and psychosexual development: Core gender identity, sexual orientation, and recalled childhood gender role behavior in women and men with congenital adrenal hyperplasia (CAH)
Hines, M., Brook, C. G. D., & Conway, G. S. (2004) · The Journal of Sex Research · doi:10.1080/00224490409552215 · Cited by 437 · see citing works
Gender dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia
Dessens, A. B., Slijper, F. M. E., & Drop, S. L. S. (2005) · Archives of Sexual Behavior · doi:10.1007/s10508-005-4338-5 · Cited by 425 · see citing works
Sex-related variation in human behavior and the brain
Hines, M. (2010) · Trends in Cognitive Sciences · doi:10.1016/j.tics.2010.07.005 · Cited by 355 · see citing works
Psychosexual Development of Women with Congenital Adrenal Hyperplasia
Zucker, K. J., Bradley, S. J., Oliver, G., Blake, J. M., Fleming, S., & Hood, J. E. (1996) · Hormones and Behavior · doi:10.1006/hbeh.1996.0038 · Cited by 347 · see citing works
Prenatal Hormones and Postnatal Socialization by Parents as Determinants of Male-Typical Toy Play in Girls With Congenital Adrenal Hyperplasia
Pasterski, V., Geffner, M. E., Brain, C. E., Hindmarsh, P. C., Brook, C. G. D., & Hines, M. (2005) · Child Development · doi:10.1111/j.1467-8624.2005.00843.x · Cited by 335 · see citing works
Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess
Meyer-Bahlburg, H. F. L., Dolezal, C., Baker, S. W., & New, M. I. (2008) · Archives of Sexual Behavior · doi:10.1007/s10508-007-9265-1 · Cited by 326 · see citing works
Gender Role Behavior, Sexuality, and Psychosocial Adaptation in Women with Congenital Adrenal Hyperplasia due to<i>CYP21A2</i>Deficiency
Frisén, L., Nordenström, A., Falhammar, H., Filipsson, H., Holmdahl, G., Janson, P. O., Thorén, M., Hagenfeldt, K., Möller, A., & Nordenskjöld, A. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-0636 · Cited by 276 · see citing works
Self-citation
Sex-Typed Toy Play Behavior Correlates with the Degree of Prenatal Androgen Exposure Assessed by<i>CYP21</i>Genotype in Girls with Congenital Adrenal Hyperplasia
Nordenström, A., Servin, A., Bohlin, G., Larsson, A., & Wedell, A. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2001-011531 · Cited by 256 · see citing works
Self-citation
Sexual function and genital sensitivity following feminizing genitoplasty for congenital adrenal hyperplasia
Crouch, N. S., Liao, L. M., Woodhouse, C. R. J., Conway, G. S., & Creighton, S. M. (2008) · Journal of Urology · doi:10.1016/j.juro.2007.09.079 · Cited by 249 · see citing works
Sexual behavior in adolescent and adult females with congenital adrenal hyperplasia
Dittmann, R., Kappes, M. E., & Kappes, M. H. (1992) · Psychoneuroendocrinology · doi:10.1016/0306-4530(92)90054-b · Cited by 242 · see citing works
Gender development in women with congenital adrenal hyperplasia as a function of disorder severity
Meyer-Bahlburg, H. F. L., Dolezal, C., Baker, S. W., Ehrhardt, A. A., & New, M. I. (2006) · Archives of Sexual Behavior · doi:10.1007/s10508-006-9068-9 · Cited by 234 · see citing works
Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia
Nordenskjöld, A., Holmdahl, G., Frisén, L., Falhammar, H., Filipsson, H., Thorén, M., Janson, P. O., & Hagenfeldt, K. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-0556 · Cited by 205 · see citing works
Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Hagenfeldt, K., Janson, P. O., Holmdahl, G., Falhammar, H., Filipsson, H., Frisen, L., Thoren, M., & Nordenskjold, A. (2008) · Human Reproduction · doi:10.1093/humrep/den118 · Cited by 205 · see citing works
Reassessing fecundity in women with classical congenital adrenal hyperplasia (CAH): normal pregnancy rate but reduced fertility rate
Casteràs, A., De Silva, P., Rumsby, G., & Conway, G. S. (2009) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2009.03563.x · Cited by 190 · see citing works
Impaired Sexual and Reproductive Outcomes in Women with Classical Forms of Congenital Adrenal Hyperplasia
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
Quality of life in 70 women with disorders of sex development
Johannsen, T. H., Ripa, C. P. L., Mortensen, E. L., & Main, K. M. (2006) · European Journal of Endocrinology · doi:10.1530/eje.1.02294 · Cited by 171 · see citing works
Sexual Function and Surgical Outcome in Women with Congenital Adrenal Hyperplasia Due to CYP21A2 Deficiency: Clinical Perspective and the Patients’ Perception
Nordenström, A., Frisén, L., Falhammar, H., Nyström, H. F., Holmdahl, G., Janson, P. O., Thorén, M. C., Hagenfeldt, K., & Nordenskjöld, A. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-2639 · Cited by 160 · see citing works
Self-citation
Genital sensation after feminizing genitoplasty for congenital adrenal hyperplasia: a pilot study
Crouch, N. S., Minto, C. L., Laio, L. ‐., Woodhouse, C. R. J., & Creighton, S. M. (2003) · British Journal of Urology · doi:10.1111/j.1464-410x.2004.04572.x · Cited by 160 · see citing works
Personality and congenital adrenal hyperplasia: Possible effects of prenatal androgen exposure
Mathews, G. A., Fane, B. A., Conway, G. S., Brook, C. G. D., & Hines, M. (2008) · Hormones and Behavior · doi:10.1016/j.yhbeh.2008.11.007 · Cited by 122 · see citing works
Approach to Assigning Gender in 46,XX Congenital Adrenal Hyperplasia with Male External Genitalia: Replacing Dogmatism with Pragmatism
Houk, C. P., & Lee, P. A. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-0714 · Cited by 111 · see citing works
Psychological adjustment in children and adults with congenital adrenal hyperplasia
Berenbaum, S. A., Bryk, K. L. K., Duck, S. C., & Resnick, S. M. (2004) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2004.03.037 · Cited by 103 · see citing works
The role of bilateral adrenalectomy in the treatment of congenital adrenal hyperplasia
Van Wyk, J. J., & Ritzen, E. M. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-022026 · Cited by 89 · see citing works
Subjective health status in men and women with congenital adrenal hyperplasia: a population-based survey in Norway
Nermoen, I., Husebye, E. S., Svartberg, J. B., & Løvås, K. (2010) · European Journal of Endocrinology · doi:10.1530/eje-10-0284 · Cited by 89 · see citing works
Surgical options in disorders of sex development (dsd) with ambiguous genitalia
Vidal, I., Gorduza, D. B., Haraux, É., Gay, C.-L., Chatelain, P., Nicolino, M. P., Mure, P., & Mouriquand, P. D. E. (2010) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2009.10.004 · Cited by 80 · see citing works
Prenatal hormones and childhood sex segregation: Playmate and play style preferences in girls with congenital adrenal hyperplasia
Pasterski, V., Geffner, M. E., Brain, C. E., Hindmarsh, P. C., Brook, C. G. D., & Hines, M. (2011) · Hormones and Behavior · doi:10.1016/j.yhbeh.2011.02.007 · Cited by 78 · see citing works
Quality of life is less impaired in adults with congenital adrenal hyperplasia because of 21-hydroxylase deficiency than in patients with primary adrenal insufficiency: Quality of life in adult CAH patients
Reisch, N., Hahner, S., Bleicken, B., Flade, L., Pedrosa Gil, F., Loeffler, M., Ventz, M., Hinz, A., Beuschlein, F., Allolio, B., et al. (2011) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2010.03920.x · Cited by 78 · see citing works
Congenital Adrenal Hyperplasia: A Critical Appraisal of the Evolution of Feminizing Genitoplasty and the Controversies Surrounding Gender Reassignment
Braga, L. H., & Salle, J. L. P. (2009) · European Journal of Pediatric Surgery · doi:10.1055/s-0029-1233490 · Cited by 77 · see citing works
Psychological Long-Term Outcome in Intersex Conditions
Cohen–Kettenis, P. T. (2005) · Hormone Research in Paediatrics · doi:10.1159/000087750 · Cited by 70 · see citing works
Ovarian adrenal rest tumor in a congenital adrenal hyperplasia patient with adrenocorticotropin hypersecretion following adrenalectomy
Tiosano, D., Vlodavsky, E., Filmar, S., Weiner, Z., Goldsher, D., & Bar-Shalom, R. (2010) · Hormone Research in Paediatrics · doi:10.1159/000295722 · Cited by 65 · see citing works
Molecular Genetics of 21- Hydroxylase Deficiency
Wedell, A. (2010) · Endocrine development · doi:10.1159/000321223 · Cited by 64 · see citing works
Surgical management of ambiguous genitalia
Rangecroft, L. (2003) · Archives of Disease in Childhood · doi:10.1136/adc.88.9.799 · Cited by 52 · see citing works
Psychiatric manifestations in young females with congenital adrenal hyperplasia in Taiwan.
Liang, H., Chang, H., Chen, C.-Y., Chang, P., Lo, F.-S., & Lee, L. (2008) · PubMed · Cited by 50 · see citing works
Voice characteristics in women with congenital adrenal hyperplasia due to 21‐hydroxylase deficiency
Nygren, U., Södersten, M., Falhammar, H., Thorén, M. C., Hagenfeldt, K., & Nordenskjöld, A. (2008) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2008.03347.x · Cited by 43 · see citing works
Sexual Function and Fertility in Adult Females and Males with Congenital Adrenal Hyperplasia
Jääskeläinen, J., Tiitinen, A. E., & Voutilainen, R. (2001) · Hormone Research in Paediatrics · doi:10.1159/000048095 · Cited by 41 · see citing works
Health-Related Quality of Life, Mental Health and Psychotherapeutic Considerations for Women Diagnosed with a Disorder of Sexual Development: Congenital Adrenal Hyperplasia
Malouf, M. A., Inman, A. G., Carr, A. G., Franco, J., & Brooks, L. M. (2010) · International Journal of Pediatric Endocrinology · doi:10.1155/2010/253465 · Cited by 41 · see citing works
The Benefits and Drawbacks of Gender Typing: How Different Dimensions are Related to Psychological Adjustment
DiDonato, M. D., & Berenbaum, S. A. (2010) · Archives of Sexual Behavior · doi:10.1007/s10508-010-9620-5 · Cited by 35 · see citing works
Autologous buccal mucosa vulvovaginoplasty for high urogenital sinus
Samuelson, M. L., & Baker, L. A. (2005) · Journal of Pediatric Urology · doi:10.1016/j.jpurol.2005.09.001 · Cited by 34 · see citing works
Growth and Reproductive Outcomes in Congenital Adrenal Hyperplasia
Nebesio, T. D., & Eugster, E. A. (2010) · International Journal of Pediatric Endocrinology · doi:10.1155/2010/298937 · Cited by 33 · see citing works
Psychological adjustment in children and adults with congenital adrenal hyperplasia*1
Berenbaum, S., KORMANBRYK, K., Duck, S., & Resnick, S. (2004) · The Journal of Pediatrics · doi:10.1016/s0022-3476(04)00237-9 · Cited by 30 · see citing works
Health-Related Quality of Life, Mental Health and Psychotherapeutic Considerations for Women Diagnosed with a Disorder of Sexual Development: Congenital Adrenal Hyperplasia
Malouf, M. A., Inman, A. G., Carr, A. G., Franco, J., & Brooks, L. M. (2010) · International Journal of Pediatric Endocrinology · doi:10.1186/1687-9856-2010-253465 · Cited by 27 · see citing works
Feminizing Reconstructive Surgery for Ambiguous Genitalia: The Leipzig Experience
Hoepffner, W., Rothe, K., & Bennek, J. (2006) · The Journal of Urology · doi:10.1016/s0022-5347(05)00329-0 · Cited by 25 · see citing works
Adrenomedullary Function in Patients with Nonclassic Congenital Adrenal Hyperplasia
Verma, S., Green-Golan, L., VanRyzin, C., Drinkard, B., Mehta, S. P., Weise, M., Eisenhofer, G., & Merke, D. P. (2010) · Hormone and Metabolic Research · doi:10.1055/s-0030-1253385 · Cited by 24 · see citing works
Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Johannsen, T. H., Ripa, C. P. L., Carlsen, E., Starup, J., Nielsen, O. H., Schwartz, M., Drzewiecki, K. T., Mortensen, E. L., & Main, K. M. (2010) · International Journal of Pediatric Endocrinology · doi:10.1155/2010/784297 · Cited by 24 · see citing works
No Correlation between Androgen Receptor CAG and GGN Repeat Length and the Degree of Genital Virilization in Females with 21-Hydroxylase Deficiency
Welzel, M., Schwarz, H., Hedderich, J., Dörr, H. G., Binder, G., Brämswig, J., Krude, H., Richter-Unruh, A., Niedziela, M., Gromoll, J., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-1338 · Cited by 23 · see citing works
Growth 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
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 · see citing works
Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Johannsen, T. H., Ripa, C. P. L., Carlsen, E., Starup, J., Nielsen, O. H., Schwartz, M., Drzewiecki, Mortensen, E. L., & Main, K. M. (2010) · International Journal of Pediatric Endocrinology · doi:10.1186/1687-9856-2010-784297 · Cited by 18 · see citing works

Flagged first, then by citations

Sorted by citations

Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnab016 · Cited by 556 · see citing works
Self-citation
Surgery in disorders of sex development (DSD) with a gender issue: If (why), when, and how?
Mouriquand, P. D. E., Gorduza, D. B., Gay, C.-L., Meyer‐Bahlburg, H. F. L., Baker, L. A., Baskin, L. S., Bouvattier, C. M., Braga, L. H., Caldamone, A. C., Duranteau, L., et al. (2016) · Journal of Pediatric Urology · doi:10.1016/j.jpurol.2016.04.001 · Cited by 248 · see citing works
Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia: epidemiological studies in a nonbiased national cohort in Sweden
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
Self-citation
Poor compliance and increased mortality, depression and healthcare costs in patients with congenital adrenal hyperplasia
Jenkins-Jones, S., Parviainen, L., Porter, J., Withe, M., Whitaker, M. J., Holden, S. E., Morgan, C. L., Currie, C. J., & Ross, R. J. M. (2018) · European Journal of Endocrinology · doi:10.1530/eje-17-0895 · Cited by 85 · see citing works
Health-related quality of life in children with disorders of sex development (DSD)
Jürgensen, M., Lux, A., Wien, S. B., Kleinemeier, E., Hiort, O., & Thyen, U. (2014) · European Journal of Pediatrics · doi:10.1007/s00431-014-2264-z · Cited by 75 · see citing works
Management of CAH during pregnancy
Witchel, S. F. (2012) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0b013e32835a1a2e · Cited by 62 · see citing works
Utilization of Health Care Services and Satisfaction with Care in Adults Affected by Disorders of Sex Development (DSD)
Thyen, U., Lux, A., Jürgensen, M., Hiort, O., & Köhler, B. (2014) · Journal of General Internal Medicine · doi:10.1007/s11606-014-2917-7 · Cited by 60 · see citing works
Health related quality of life of children and adolescents with congenital adrenal hyperplasia in Brazil
Gilban, D. L. S., Alves Junior, P. A. G., & Beserra, I. C. R. (2014) · Health and Quality of Life Outcomes · doi:10.1186/s12955-014-0107-2 · Cited by 51 · see citing works
Psychoendocrinology of Congenital Adrenal Hyperplasia
Meyer-Bahlburg, H. F. L. (2014) · Genetic Steroid Disorders · doi:10.1016/b978-0-12-416006-4.00023-5 · Cited by 48 · see citing works
Psychosexual development and quality of life outcomes in females with congenital adrenal hyperplasia
Kanhere, M., Fuqua, J. S., Rink, R. C., Houk, C. P., Mauger, D. T., & Lee, P. A. (2015) · International Journal of Pediatric Endocrinology · doi:10.1186/s13633-015-0017-z · Cited by 38 · see citing works
Psychosocial well-being in Dutch adults with disorders of sex development
de Neve-Enthoven, N. G. M., Callens, N., van Kuyk, M., van Kuppenveld, J. H., Drop, S. L. S., Cohen‐Kettenis, P. T., & Dessens, A. B. (2016) · Journal of Psychosomatic Research · doi:10.1016/j.jpsychores.2016.03.005 · Cited by 39 · see citing works
Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency
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
Pediatric Disorders of Sex Development
Achermann, J. C., & Hughes, I. A. (2016) · Elsevier eBooks · doi:10.1016/b978-0-323-29738-7.00023-x · Cited by 21 · see citing works
Body Image and Quality of Life in Women with Congenital Adrenal Hyperplasia
Tschaidse, L., Quinkler, M. O., der Grinten, H. L. C., Nordenström, A., de la Perrière, A. B., Auer, M. K., & Reisch, N. (2022) · Journal of Clinical Medicine · doi:10.3390/jcm11154506 · Cited by 23 · see citing works
Self-citation
Late prenatal dexamethasone and phenotype variations in 46,XX CAH: concerns about current protocols and benefits for surgical procedures
Gorduza, D., Tardy-Guidollet, V., Robert, E., Gay, C.-L., Chatelain, P., David, M., Bretones, P., Lienhardt-Roussie, A., Brac de la Perriere, A., Morel, Y., et al. (2014) · Journal of Pediatric Urology · doi:10.1016/j.jpurol.2014.02.003 · Cited by 20 · see citing works
Genetics and Pathophysiology of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Yang, M., & White, P. C. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae535 · Cited by 20 · see citing works
Sexual orientation of 46, XX patients with congenital adrenal hyperplasia: a descriptive review
Gondim, R. C., Teles, F., & Barroso, U. (2018) · Journal of Pediatric Urology · doi:10.1016/j.jpurol.2018.08.004 · Cited by 15 · see citing works
Individualized care for patients with intersex (differences of sex development): part 4/5.Considering the Ifs, Whens, and Whats regarding sexual-reproductive system surgery
Krishna, K. B., Kogan, B. A., Mazur, T., Hoebeke, P. B., Bogaert, G., & Lee, P. A. (2021) · Journal of Pediatric Urology · doi:10.1016/j.jpurol.2021.02.011 · Cited by 12 · see citing works
Health-related quality of life of female patients with congenital adrenal hyperplasia in Malaysia
Zainuddin, A. A., Grover, S. R., Ghani, N. A. A., Wu, L. L., Rasat, R., Manaf, M. R. A., Shamsuddin, K., & Mahdy, Z. A. (2020) · Health and Quality of Life Outcomes · doi:10.1186/s12955-020-01515-9 · Cited by 10 · see citing works
Knowledge, stress and adopted coping strategies of parents of children having congenital adrenal hyperplasia: An exploratory survey
Joshi, P., Yadav, B., Jain, V., & Sharma, S. (2020) · Indian Journal of Child Health · doi:10.32677/ijch.2017.v04.i02.005 · Cited by 9 · see citing works
Congenital adrenal hyperplasia
Krone, N. P., & Hughes, I. A. (2020) · doi:10.1093/med/9780198746690.003.0250 · Cited by 7 · see citing works
Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-hydroxylase Deficiency in 457 Individuals
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 · see citing works
Surgical timing and complications, with body image, quality of life, sexual function and genital sensation in patients with congenital adrenal hyperplasia
Preston, M., Morris, A., Villegas, R., Huston, J., Héloury, Y., & Grover, S. R. (2024) · Journal of Pediatric Urology · doi:10.1016/j.jpurol.2024.01.015 · Cited by 6 · see citing works
Severe Hyperandrogenism in 46,XX Congenital Adrenal Hyperplasia: Molecular Physiopathology, Late Diagnoses, and Personalized Management
Cera, G., Corsello, A., Novizio, R., Donna, V. D., Locantore, P., & Paragliola, R. M. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms252111779 · Cited by 6 · see citing works
Gender Reversal And Bilateral Giant Adrenal Myelolipomas In A 46,XX Patient With 21-Hydroxylase Deficiency: Case Report And Review Of The Literature
Westcott, G. P., Sadeghi‐Nejad, A., Munoz‐Pena, J. M., Blau, A., Goodman, M. D., & Siegel, R. D. (2016) · AACE Clinical Case Reports · doi:10.4158/ep161343.cr · Cited by 5 · see citing works
Ambiguous Genitalia
Witchel, S. F., & Lee, P. A. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-62520-3.00006-3 · Cited by 4 · see citing works
Hiperplasia adrenal congênita em mulheres adultas: manejo de antigos e novos desafios
Costa‐Barbosa, F. A., Silveira, M. T., & Kater, C. E. (2014) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/0004-2730000002987 · Cited by 5 · see citing works
Fertility outcome in male and female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Kamoun, M., Mnif, M. F., Charfi, N., Naceur, B. B., Mnif, F., Rekik, N. M., Mnif, Z., Sfar, M. H., Sfar, M. T., Hachicha, M., et al. (2013) · Middle East Fertility Society Journal · doi:10.1016/j.mefs.2013.05.006 · Cited by 4 · see citing works
Depression and Anxiety in Children with Congenital Adrenal Hyperplasia
Hassanein, S. A., Badawi, N., Afifi, D., Gamal, R., & Ibrahim, A. K. (2022) · Pediatric Sciences Journal · doi:10.21608/cupsj.2022.143452.1065 · Cited by 2 · see citing works
Psychoendocrinology of congenital adrenal hyperplasia
Meyer‐Bahlburg, H. F. L. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-821424-4.00027-7 · Cited by 2 · see citing works
Psychological 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
Special Populations
Canares, T., Franco, M., & Lazarus, G. M. (2016) · Cambridge University Press eBooks · doi:10.1017/cbo9781107705944.016 · Cited by 1 · see citing works
Interaction of medical diseases and female physiology
Dotters-Katz, S. K., & Valea, F. A. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-65399-2.00017-6 · Cited by 1 · see citing works
Health-Related Quality of Life in Female Children with Congenital Adrenal Hyperplasia: A Mixed Methods Study
Carroll, L. (2018) · doi:10.21007/etd.cghs.2018.0452 · Cited by 1 · see citing works
Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia
Lajić, S., & Nordenström, A. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.65214-5
Self-citation
Congenital adrenal hyperplasia as a model to explore gender fluidity in early life; particularly 46,XX patients with male external genitalia
Krishna, K. B., Houk, C. P., Mohsin, F., & Lee, P. A. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-815968-2.00013-x
Health-related quality of life of female patients with congenital adrenal hyperplasia in Malaysia
Zainuddin, A. A., Grover, S. R., Abdul Ghani, N. A., Ll, W., Rasat, R., Abdul Manaf, M. R., Shamsuddin, K., & Mahdy, Z. A. (2021) · Yearbook of pediatric endocrinology · doi:10.1530/ey.18.13.9
Current World Literature
(2012) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0b013e3283542fb3
21-Hydroxylase Deficiency: Clinical and Biochemical Aspects
Nordenström, A., & Lajić, S. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.65208-x
Self-citation
Psychometric properties of the Persian adaptation of quality of sexual function questionnaire
Askari, M., Raziani, Y., Ardebili, M. E., Bernstein, C., Shokoohi, M., Noodeh, F. A., Vossoughi, M., & Ranjbar, H. (2023) · Quality & Quantity · doi:10.1007/s11135-023-01718-4
21-Hydroxylase deficiency: Clinical and biochemical aspects
Nordenström, A., & Lajić, S. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00171-0
Self-citation
Update on prenatal diagnosis and treatment of congenital adrenal hyperplasia
Westeinde, A. V., Nordenström, A., & Lajić, S. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00183-7
Self-citation

Psychosexual outcome in women affected by congenital adrenal hyperplasia due to 21-hydroxylase deficiency
WISNIEWSKI, A. B., MIGEON, C. J., MALOUF, M. A., & GEARHART, J. P. (2004) · Journal of Urology · doi:10.1097/01.ju.0000125269.91938.f7 · Cited by 144 · see citing works
Sexual Function and Surgical Outcome in Women with Congenital Adrenal Hyperplasia Due to CYP21A2 Deficiency: Clinical Perspective and the Patients’ Perception
Nordenström, A., Frisén, L., Falhammar, H., Nyström, H. F., Holmdahl, G., Janson, P. O., Thorén, M. C., Hagenfeldt, K., & Nordenskjöld, A. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-2639 · Cited by 160 · see citing works
Self-citation
The long term outcome of feminizing genital surgery for congenital adrenal hyperplasia: anatomical, functional and cosmetic outcomes, psychosexual development, and satisfaction in adult female patients
Stikkelbroeck, N. M. M. L., Beerendonk, C. C. M., Willemsen, W. N. P., Schreuders-Bais, C. A., Feitz, W. F. J., Rieu, P. N. M. A., Hermus, A. R., & Otten, B. J. (2003) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/s1083-3188(03)00155-4 · Cited by 107 · see citing works
Malaysian females with congenital adrenal hyperplasia: surgical outcomes and attitudes
Zainuddin, A. A., Grover, S. R., Soon, C. H., Ag, N. A., Mahdy, Z. A., Ll, W., Rasat, R., Harun, F., Wy, C., & Shamsuddin, K. (2019) · Yearbook of pediatric endocrinology · doi:10.1530/ey.16.13.8 · Cited by 1 · see citing works
Congenital Adrenal Hyperplasia: A Critical Appraisal of the Evolution of Feminizing Genitoplasty and the Controversies Surrounding Gender Reassignment
Braga, L. H., & Salle, J. L. P. (2009) · European Journal of Pediatric Surgery · doi:10.1055/s-0029-1233490 · Cited by 77 · see citing works

Authors: Nordenström, A.
Affiliations: Karolinska University Hospital (SE)
Corresponding author: Nordenström, Anna
ORCID: Nordenström, Anna
Venue: Current Opinion in Pediatrics
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2011-08
Volume: 23
Issue: 4
Pages: 436-442
ISSN: 1040-8703 (ISSN-L)
DOI: 10.1097/mop.0b013e32834810a4
OpenAlex: W2085761694
Semantic Scholar: 69fade063c07ba53a9592fc34757233ccfd57d2a
Cited by: 42
References: 49
Citations by year: 2025: 2 · 2024: 4 · 2023: 2 · 2022: 2 · 2021: 6 · 2020: 4 · 2018: 5 · 2016: 5 · 2015: 1 · 2014: 6 · 2013: 3 · 2012: 2
FWCI: 0.32
Type: journal article
Language: en
Open access: closed
Locations: Current Opinion in Pediatrics (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
Social Sciences › Psychology › Social Psychology › LGBTQ Health, Identity, and Policy
Keywords: congenital adrenal hyperplasia, 21-hydroxylase deficiency, CYP21A2, adult women, feminizing surgery, genital surgery, infertility, quality of life, sex of rearing, sex identity, prenatal androgen exposure, masculinization, multidisciplinary care
MeSH terms: Adrenal Hyperplasia, Congenital, Adult, Androgens, Female, Hormones, Humans, Infertility, Female, Quality of Life, Treatment Outcome, Patient Satisfaction, Sexuality, Gender-Affirming Procedures

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Adult women with 21-hydroxylase deficient congenital adrenal hyperplasia, surgical and psychological aspects

Abstract

Integrity signals

Claims the paper makes

Claims other papers make about this one

Cites

Cited by

Related

Record

About these checks