TRN Publications

Research in Differences of Sex Development (DSD) is key to guiding better care for patients with DSD. The TRN publishes in order to build a body of literature that produces evidence-based care guidelines in DSD. The TRN is often acknowledged in a number of publications.

2024 Publications

Discrepancies Between Imaging Reports and Operative Findings in Patients With Cloaca: A Call for Expansion of the Mullerian Anomalies Classification. Ochoa, B., Weidler, E. M., & van Leeuwen, K. (2024). Journal of pediatric surgery, 59(7), 1262–1265. https://doi.org/10.1016/j.jpedsurg.2024.03.018
Novel Approaches to Patients with Differences of Sex Development. Ochoa, B., Weidler, E. M., Parks, M. A., Speck, K. E., & van Leeuwen, K. (2024). Advances in pediatrics, 71(1), 151–167. https://doi.org/10.1016/j.yapd.2024.04.002
Defining Success in the Delivery of Fertility-Related Care for Patients with Differences of Sex Development. Streich-Tilles, T., Morrison, A., Schafer-Kalkhoff, T., Gardner, M., Suorsa-Johnson, K. I., Baskin, A., Weidler, E. M., van Leeuwen, K., Sandberg, D. E., & Rutter, M. M. (2024). Hormone research in paediatrics, 1–10. Advance online publication. https://doi.org/10.1159/000541029
Prenatal and postnatal evaluation of differences of sex development: a user’s guide for clinicians and families. Weidler, E. M., Ochoa, B., & van Leeuwen, K. (2024). Current opinion in pediatrics, 36(5), 547–553. https://doi.org/10.1097/MOP.0000000000001388
Anthropometric changes among children and adolescents with classic 46,XX congenital adrenal hyperplasia compared to their peers. (in press, available online) McCracken C, Kaabi O, Crawford M, Gardner MD, Getahun D, Goodman M, Khorashad BS, Lash TL, Roblin D, Vupputuri S, Yacoub R, Speiser PW, Lee PA, Sandberg DE. (2024). Endocr Practice. https://doi.org/10.1016/j.eprac.2024.09.005
Preferences in clinical care of individuals with differences of sex development. Avancena, A. L. V., Rose, A. M., Gardner, M. D., Rutter, M. M., Schafer-Kalkhoff, T., Suorsa-Johnson, K. I., van Leeuwen, K. D., Weidler, E. M., Gebremariam, A., Sandberg, D. E., & Prosser, L. A. (2024). Pediatrics, 153(6). https://doi.org/10.1542/peds.2023-064207
Recommendations for 46,XX congenital adrenal hyperplasia across two decades: Insights from the North American Differences of Sex Development Clinician Survey. Gardner, M., Khorashad, B. S., Lee, P. A., Kogan, B. A., & Sandberg, D. E. (2024). Archives of Sexual Behavior. 53(5): 1695-1711. https://doi.org/10.1007/s10508-024-02853-1
Recommendations for 46,XY disorders/differences of sex development (DSD) across two decades: Insights from North American pediatric endocrinologists and urologists. Khorashad, B. S., Gardner, M. A., Lee, P. A., Kogan, B. A., & Sandberg, D. E. (2024). Archives of Sexual Behavior, in press.
Multi-stakeholder opinion statement on the care of individuals born with differences of sex development: Common ground and opportunities for improvement. Cools, M., Cheng, E. Y., Hall, J., Alderson, J., Amies Oelschlager, A. M., Balen, A. H., Chan, Y. M., Geffner, M. E., Gravholt, C. H., Guran, T., Hoebeke, P., Lee, P., Magritte, E., Matos, D., McElreavey, K., Meyer-Bahlburg, H. F. L., Rink, R. C., Springer, A., Szymanski, K. M., . . . Subramaniam, R. (2024). Horm Res Paediatr. https://doi.org/10.1159/000536296

2023 Publications

Written surgical informed consent elements in pediatric differences of sex development: Pediatric urologist and endocrinologist perspectives [Brief Research Report]. Lapham, Z. K., Gardner, M., Sheinker, S., Suorsa-Johnson, K. I., Kogan, B. A., Lee, P. A., & Sandberg, D. E. (2023). Frontiers in Urology, 3. https://doi.org/10.3389/fruro.2023.1188822
Decisional Support Needed when Facing Tough Decisions: Survey of Parents with Children having Differences of Sex Development. Gardner, M., Brinkman, W. B., Carley, M., Liang, N., Lightfoot, S., Pinkelman, K., Speiser, P. W., Schafer-Kalkhoff, T., Suorsa-Johnson, K. I., VanderBrink, B., Weidler, E. M., Wisniewski, J., Stacey, D., & Sandberg, D. E. (2023). Frontiers in urology, 3, 1089077. https://doi.org/10.3389/fruro.2023.1089077
Objective documentation of hypospadias anatomy with three-dimensional scanning. Lee, A. S., Ho, C. P., Creviston, A. H., Rana, S., Délot, E. C., & Casella, D. P. (2023). Journal of Pediatric Urology. https://doi.org/https://doi.org/10.1016/j.jpurol.2023.11.049
Co-creating a suite of patient decision aids for parents of an infant or young child with differences of sex development: A methods roadmap. Lightfoot, S., Carley, M., Brinkman, W., Gardner, M. D., Gruppen, L. D., Liang, N., Pinkelman, K., Speiser, P. W., Suorsa-Johnson, K. I., VanderBrink, B., Wisniewski, J., Sandberg, D. E., & Stacey, D. (2023). Front Urol, 2. https://doi.org/10.3389/fruro.2022.1020152
Information sharing in differences of sex development: The creation of a caregiver-support tool. Moyer, D. N., Suorsa-Johnson, K. I., Weidler, E. M., Ernst, M. M., & DSD-TRN Psychosocial Workgroup. (2023). Fam Syst Health, 41(2), 256-264. https://doi.org/10.1037/fsh0000724
A survey of healthcare professionals’ perceptions of the decisional needs of parents with an infant born with a disorder/difference of sex development. Suorsa-Johnson, K. I., Gardner, M. D., Brinkman, W., Carley, M., Gruppen, L., Liang, N., Lightfoot, S., Pinkelman, K., Speiser, P. W., VanderBrink, B., Wisniewski, J., Sandberg, D. E., & Stacey, D. (2023). J Pediatr Urol, 19(1), 39-49. https://doi.org/10.1016/j.jpurol.2022.09.015
Health-related disorders in children and adolescents: A guidebook for educators and service providers, 2nd ed. Suorsa-Johnson, K. I., & Sandberg, D. E. (2023). Klinefelter syndrome. In M. M. Perfect, C. A. Riccio, & M. A. Bray (Eds.), (2nd ed., pp. 293-301). American Psychological Association. https://doi.org/10.1037/0000349-035
Surgical decision-making for individuals with differences of sex development: Stakeholders’ views. Weidler, E. M., Gardner, M., Suorsa-Johnson, K. I., Schafer-Kalkhoff, T., Rutter, M. M., Sandberg, D. E., & van Leeuwen, K. (2023). Frontiers in Urology, 3. https://doi.org/10.3389/fruro.2023.1092256
“It became easier once I knew”: Stakeholder perspectives for educating children and teenagers about their difference of sex development. Weidler, E. M., Suorsa-Johnson, K. I., Baskin, A. S., Fagerlin, A., Gardner, M. D., Rutter, M. M., Schafer-Kalkhoff, T., van Leeuwen, K., & Sandberg, D. E. (2023). Patient Education and Counseling, 113, 107763. https://doi.org/10.1016/j.pec.2023.107763

2022 Publications

.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., Fluck, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., Krone, N., Merke, D. P., Miller, W. L., Nordenstrom, A., Reisch, N., Sandberg, D. E., Stikkelbroeck, N., Touraine, P., Utari, A., . . . White, P. C. (2022). Endocr Rev, 43(1), 91-159. https://doi.org/10.1210/endrev/bnab016
Creation of an electronic resource repository for differences of sex development (DSD): Collaboration between advocates and clinicians in the DSD-translational research network. Rutter, M. M., Muscarella, M., Green, J., Indig, G., von Klan, A., Kennedy, K., Weidler, E. M., Barrett, M., Sandberg, D. E., & DSD-Translational Research Network. (2022). Sex Dev, 16(4), 227-235. https://doi.org/10.1159/000524629
Differences/disorders of sex development: Medical conditions at the intersection of sex and gender. Sandberg, D. E., & Gardner, M. (2022). Annu Rev Clin Psychol, 18(1), 201-231. https://doi.org/10.1146/annurev-clinpsy-081219-101412
Decision making in differences of sex development/intersex care in the USA: Bridging advocacy and family-centred care. Sandberg, D. E., & Vilain, E. (2022). Lancet Diabetes Endocrinol, 10(6), 381-383. https://doi.org/10.1016/S2213-8587(22)00115-2
The transition to independence and adult care for women with Turner syndrome: Current status and priorities of 1338 women and parents. Streur, C. S., Floody, E. A., Lapham, Z. K., & Sandberg, D. E. (2022). Am J Med Genet A, 188(2), 400-413. https://doi.org/10.1002/ajmg.a.62564
Defining successful outcomes and preferences for clinical management in differences/disorders of sex development: Protocol overview and a qualitative phenomenological study of stakeholders’ perspectives. Suorsa-Johnson, K. I., Gardner, M. D., Baskin, A., Gruppen, L. D., Rose, A., Rutter, M. M., Schafer-Kalkhoff, T., Stacey, D., van Leeuwen, K. D., Weidler, E. M., & Sandberg, D. E. (2022). J Pediatr Urol, 18(1), 36 e31-36 e17. https://doi.org/10.1016/j.jpurol.2021.10.020

2021 Publications

The ethics of offering fertility preservation to pediatric patients: A case-based discussion of barriers for clinicians to consider. Rowell, E. E., Lautz, T. B., Lai, K., Weidler, E. M., Johnson, E. K., Finlayson, C., & van Leeuwen, K. (2021). Seminars in pediatric surgery, 30(5), 151095. https://doi.org/10.1016/j.sempedsurg.2021.151095
The transition to independence and adult care for women with Turner syndrome: Current status and priorities of 1338 women and parents, Streur, C. S., Floody, E. A., Lapham, Z. K., & Sandberg, D. E. (2021, Nov 13) American Journal of Medical Genetics, Part A. (https://doi.org/10.1002/ajmg.a.62564) (PMID: 34773722) Similar Articles
Defining successful outcomes and preferences for clinical management in differences/disorders of sex development: Protocol overview and a qualitative phenomenological study of stakeholders’ perspectives, Suorsa-Johnson, K. I., Gardner, M. D., Baskin, A., Gruppen, L. D., Rose, A., Rutter, M. M., Schafer- Kalkhoff, T., Stacey, D., van Leeuwen, K. D., Weidler, E. M., & Sandberg, D. E. (2021, Oct 30) Journal of Pediatric Urology, (https://doi.org/10.1016/j.jpurol.2021.10.020) (PMID: 34876378) Similar Articles
Towards improved genetic diagnosis of human differences of sex development, Delot, E.C., Vilain, E. (2021, June 3) Nature Reviews Genetics, 22(9), 588–602. (https://doi.org/10.1038/s41576-021-00365-5) (PMID: 34083777) Similar Articles
“Good practices” in pediatric clinical care for disorders/differences of sex development, Kavanagh, G.L., Mohnach, L., Youngblom, J., Kellison, J.G., Sandberg, D.E., in collaboration with Accord Alliance. (2021, May 21) Endocrine, 73(3), 723–733. (https://doi.org/10.1007/s12020-021-02748-4) (PMID: 34021489) Similar Articles
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., Fluck, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., Krone, N., Merke, D. P., Miller, W. L., Nordenstrom, A., Reisch, N., Sandberg, D. E., Stikkelbroeck, N., Touraine, P., Utari, A., Wudy, S. A., & White, P. C. (2021, May 7). Endocrine Reviews, (https://doi.org/10.1210/endrev/bnab016) (PMID: 33961029) Similar Articles
Optical Genome Mapping as a Next-Generation Cytogenomic Tool for Detection of Structural and Copy Number Variations for Prenatal Genomic Analyses, Sahajpal, N. S., Barseghyan, H., Kolhe, R., Hastie, A., Chaubey, A. Genes, 12(3), 398, 2021, 3. (https://doi.org/10.3390/genes12030398 ) (PMID: 33799648) Similar Articles

2020 Publications

Parent-reported outcomes in young children with disorders/differences of sex development, Ali, S. R., Macqueen, Z., Gardner, M., Xin, Y. , Kyriakou, A., Mason, A., Shaikh, M. G., Wong, S. C. , Sandberg, D. E. and Ahmed, S. F. International Journal of Pediatric Endocrinology, 2020, 3. (doi: 10.1186/s13633-020-0073-x) (PMID:32082389) Similar Articles
Gender identity: A psychosocial primer for providing care to patients with a disorder/difference of sex development and their families [individualized care for patients with intersex (Disorders/differences of sex development): Part 2]. Ernst MM, Kogan BA, Lee PA. Journal of Pediatric Urology. 2020 October; 16(5):606-611. (https://doi.org/10.1016/j.jpurol.2020.06.026) (PMID:32082389) Similar Articles
Prenatal detection and evaluation of differences of sex development. Finney EL, Finlayson C, Rosoklija I, Leethe EA, Chen D, Yerkes EB, Cheng EY, Johnson EK. Journal of Pediatric Urology. 2020 February; 16(1):89-96. (https://doi.org/10.1016/j.jpurol.2019.11.005) (PMID:31864813) Similar Articles
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. Hughes JJ, Alkhunaizi E, Kruszka P, Pyle LC, Grange DK, Berger SI, Payne KK, Masser-Frye D, Hu T, Christie MR, Clegg NJ, Everson JL, Martinez AF, Walsh LE, Bedoukian E, Jones MC, Harris CJ, Riedhammer KM, Choukair D, Fechner PY, Rutter MM, Hufnagel SB, Roifman M, Kletter GB, Delot E, Vilain E, Lipinski RJ, Vezina CM, Muenke M, Chitayat D. The American Journal of Human Genetics. 2020 January;106:121–128. (https://doi.org/10.1016/j.ajhg.2019.12.004) (PMID:31883643) Similar Articles
XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing. Kim, A., Abell, K., Johnson, J., Cizek, S., Breech, L., Ernst, M. M., Hopkin, R. J., Kennedy, K., Stanek, J., Strine, A. C., & Rutter, M. M. (2020, Nov). Pediatrics, 146(5), e20193302. (https://doi.org/10.1542/peds.2019-3302) (PMID:33060256) Similar Articles
Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States. Speiser PW, Chawla R, Chen M, Diaz-Thomas A, Finlayson C, Rutter MM, Sandberg DE, Shimy K, Talib R, Cerise J, Vilain E, Delot EC, the Disorders/Differences of Sex Development-Translational Research Network (DSD-TRN). Int. J. Neonatal Screen. 2020; 6(2):37. (https://doi.org/10.3390/ijns6020037) (PMID:32832708) Similar Articles
Evolving Indications for Surgical Intervention in Patients with Differences/Disorders of Sex Development: Implications of Deferred Reconstruction. Weidler EM, Grimsby G, Garvey EM, Zwayne N, Chawlad R, Hernandez J, Schaube T, Rink R, van Leeuwen K. Seminars in Pediatric Surgery. 2020 June; 29(3): 150929. (https://doi.org/10.1016/j.sempedsurg.2020.150929) (PMID:32571514) Similar Articles
Two cases of gonad retention in adolescent patients with complete androgen insensitivity syndrome (CAIS). Nemivant S, van Leeuwen K, Weidler E. Journal of Pediatric Surgery Case Reports 2020 Jan (DOI: 10.1016/j.epsc.2019.101332) (PMID:32864333) Similar Articles

2019 Publications

Disorders of sex development (DSD) web-based information: quality survey of DSD team websites. Ernst MM, Chen D, Kennedy K, Jewell T, Sajwani A, Foley C, Sandberg DE. International journal of pediatric endocrinology. 2019;2019:1 (DOI: 10.1186/s13633-019-0065-x.) (PMID:31149017) Similar Articles
Research priorities of people living with Turner syndrome. Sandberg DE, Singer D, Bugajski B, Gebremariam A, Scerbak T, Dooley Maley KL, Scurlock C, Culin D, Eder S, Silberbach M. American journal of medical genetics. Part C, Seminars in medical genetics. 2019 March;181(1):43-51.(DOI: 10.1002/ajmg.c.31676) (PMID:30767373) Similar Articles
Development of a decision support tool in pediatric Differences/Disorders of Sex Development. Sandberg DE, Gardner M, Kopec K, Urbanski M, Callens N, Keegan CE, Yashar BM, Fechner PY, Shnorhavorian M, Vilain E, Timmermans S, Siminoff LA. Seminars in pediatric surgery. 2019 October;28(5):150838. (DOI: 10.1016/j.sempedsurg.2019.150838) (PMID: 31668291) Similar Articles
Pelvic pain in patients with complex mullerian anomalies including Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH), obstructed hemi-vagina ipsilateral renal anomaly (OHVIRA), and complex cloaca. Schall K, Parks M, Nemivant S, Hernandez J, Weidler EM. Seminars in pediatric surgery. 2019 October;28(5):150842. (DOI: 10.1016/j.sempedsurg.2019.150842) (PMID:31668297) Similar Articles
The impact of culture on disclosure in differences of sex development. Seminars in pediatric surgery . Weidler EM, Peterson KE. Seminars in pediatric surgery. 2019 October;28(5):150840. (DOI: 10.1016/j.sempedsurg.2019.150840.) (PMID:31668288) Similar Articles
Clinical management in mixed gonadal dysgenesis with chromosomal mosaicism: Considerations in newborns and adolescents. Weidler EM, Pearson M, van Leeuwen K, Garvey E. Seminars in pediatric surgery. 2019 October;28(5):150841. (DOI: 10.1016/j.sempedsurg.2019.150841) (PMID:31668295) Similar Articles
A Management Protocol for Gonad Preservation in Patients with Androgen Insensitivity Syndrome. Weidler EM, Linnaus ME, Baratz AB, Goncalves LF, Bailey S, Hernandez SJ, GomezLobo V, van Leeuwen K. Journal of pediatric and adolescent gynecology. 2019 December;32(6):605-611. (DOI: 10.1016/j.jpag.2019.06.005) (PMID:31233832) Similar Articles
A shared decision-making tool for individuals living with complete androgen insensitivity syndrome. Weidler EM, Baratz A, Muscarella M, Hernandez SJ, van Leeuwen K. Seminars in pediatric surgery. 2019;28(5):150844. (DOI: 10.1016/j.sempedsurg.2019.150844) (PMID:31668289) Similar Articles
Utilization of a shared decision-making tool in a female infant with congenital adrenal hyperplasia and genital ambiguity. Chawla R, Weidler EM, Hernandez J, Grimbsy G, van Leeuwen K. J Pediatr Endocrinol Metab. 2019;32(6):643-646. (DOI: 10.1515/jpem-2018-0567) (PMID:31145695) Similar Articles
Psychosocial screening in disorders/differences of sex development: psychometric evaluation of the Psychosocial Assessment Tool. Ernst MM, Gardner M, Mara CA, Délot EC, Fechner PY, Fox M, Rutter MM, Speiser PW, Vilain E, Weidler EM, Sandberg DE; The DSD-Translational Research Network Leadership Group and Psychosocial Workgroup. Horm Res Paediatr. 2018;90(6):368-380. (DOI: 10.1159/000496114) (PMID: 30783028) Similar Articles
Care of the adolescent patient with congenital adrenal hyperplasia: Special considerations, shared decision making, and transition. Chawla R, Rutter M, Green J, Weidler EM. Semin Pediatr Surg. 2019 Oct;28(5):150845. (DOI: 10.1016/j.sempedsurg.2019.150845) (PMID: 31668292) Similar Articles
Preface: Challenges in caring for patients with disorders of sex development. van Leeuwen K, Grimsby G, Weidler EM. Semin Pediatr Surg. 2019 Oct;28(5):150837. (DOI: 10.1016/j.sempedsurg.2019.150837) (PMID: 31668294) Similar Articles

2018 Publications

Navigating Surgical Decision Making in Disorders of Sex Development (DSD). Gardner M, Sandberg DE. Frontiers in pediatrics. 2018 November 19;6:339. (DOI: 10.3389/fped.2018.00339) (PMID:30510925) Similar Articles
Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y ^POS mouse model. Barseghyan H, Symon A, Zadikyan M, Almalvez M, Segura EE, Eskin A, Bramble MS, Arboleda VA, Baxter R, Nelson SF, Délot EC, Harley V, Vilain E. Biol Sex Differ. 2018 Jan 30;9(1):8. (DOI: 10.1186/s13293-018-0167-9.) (PMID: 29378665) Similar Articles
Attitudes toward ‘Disorders of Sex Development’ nomenclature among physicians, genetic counselors, and mental health clinicians. Miller L, Leeth EA, Johnson EK, Rosoklija I, Chen D, Aufox SA, Finlayson C. J Pediatr Urol. 2018 Oct;14(5):418.e1-418.e7. (DOI: 10.1016/j.jpurol.2018.08.009.) (PMID: 30224300) Similar Articles
Mental health and sexual function in CAIS: context beyond sex hormones. Sandberg DE. Lancet Diabetes Endocrinol. 2018 Oct;6(10):754-755. (DOI: 10.1016/S2213-8587(18)30206-7) (PMID: 30075955) Similar Articles
Disorders of Sex Development/Intersex: Gaps in Psychosocial Care for Children. Ernst MM, Liao LM, Baratz AB, Sandberg DE. Pediatrics. 2018 Aug;142(2):e20174045. (DOI: 10.1542/peds.2017-4045) (PMID: 30045929) Similar Articles

2017 Publications

Genetics of Disorders of Sex Development: The DSD-TRN Experience. Délot EC, Papp JC, Sandberg DE, Vilain E, Endocrinol Metab Clin North Am. 2017 Jun;46(2):519-537. (DOI: 10.1016/j.ecl.2017.01.015) (PMID: 28476235) Similar Articles
Interdisciplinary care in disorders/differences of sex development (DSD): The psychosocial component of the DSD-Translational research network. Sandberg DE, Gardner M, Callens N, Mazur T. Am J Med Genet C Semin Med Genet. 2017 Jun;175(2):279-292. (DOI: 10.1002/ajmg.c.31561.) (PMID: 28574671) Similar Articles
Introduction to the Special Section: Disorders of Sex Development. Sandberg DE, Pasterski V, Callens N. J Pediatr Psychol. 2017 Jun 1;42(5):487-495. (DOI: 10.1093/jpepsy/jsx065) (PMID: 28499017) Similar Articles
Disorders of sex development (DSD): Clinical service delivery in the United States. Rolston AM, Gardner M, van Leeuwen K, Mohnach L, Keegan C, Délot E, Vilain E, Sandberg DE; members of the DSD-TRN Advocacy; Advisory Network Accord Alliance. Am J Med Genet C Semin Med Genet. 2017 Jun;175(2):268-278. (DOI: 10.1002/ajmg.c.31558) (PMID: 28557237) Similar Articles
Disorders/Differences of Sex Development. Callens, Nina & Gardner, Melissa & Sandberg, David. (2017). In: Roberts MC, Steele RG, editors. Handbook of Pediatric Psychology. Fifth ed. New York, NY: The Guilford Press; 2017. p. 632-642.
Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency. Byers HM, Mohnach LH, Fechner PY, Chen M, Thomas IH, Ramsdell LA, Shnorhavorian M, McCauley EA, Amies Oelschlager AE, Park JM, Sandberg DE, Adam MP, Keegan CE. Am J Med Genet C Semin Med Genet. 2017 Jun;175(2):260-267. (DOI: 10.1002/ajmg.c.31560) (PMID: 28544750) Similar Articles

2015 Publications

New genomic technologies: an aid for diagnosis of disorders of sex development. Barseghyan H, Délot E, Vilain E. Horm Metab Res. 2015 May;47(5):312-20. (DOI: 10.1055/s-0035-1548831) (PMID: 25970709) Similar Articles
Disorders of Sex Development (DSD): Networking and Standardization Considerations. Sandberg DE, Callens N, Wisniewski AB. Horm Metab Res. 2015 May;47(5):387-93. (DOI: 10.1055/s-0035-1548936) (PMID: 25970713) Similar Articles
Promoting Shared Decision Making in Disorders of Sex Development (DSD): Decision Aids and Support Tools. Siminoff LA, Sandberg DE. Horm Metab Res. 2015 May;47(5):335-9. (DOI: 10.1055/s-0035-1545302) (PMID: 25853896) Similar Articles
Parenting Children with Disorders of Sex Development (DSD): A Developmental Perspective Beyond Gende. Wisniewski AB, Sandberg DE. Horm Metab Res. 2015 May;47(5):375-9. (DOI: 10.1055/s-0034-1398561) (PMID: 25654767) Similar Articles
Isodicentric Y mosaicism involving a 46, XX cell line: Implications for management. Hipp LE, Mohnach LH, Wei S, Thomas IH, Elhassan ME, Sandberg DE, Quint EH, Keegan CE. Am J Med Genet A. 2016 Jan;170A(1):233-8. (DOI: 10.1002/ajmg.a.37403) (PMID: 26407917) Similar Articles
The Lived Experience of MRKH: Sharing Health Information with Peers. Ernst ME, Sandberg DE, Keegan C, Quint EH, Lossie AC, Yashar BM. J Pediatr Adolesc Gynecol. 2016 Apr;29(2):154-8. (DOI: 10.1016/j.jpag.2015.09.009) (PMID: 26453829) Similar Articles
Disorders of Sex Development: Why Adolescent Medicine Specialists Should Care. Sandberg DE. Adolesc Med State Art Rev. 2015 Aug;26(2):428-47. (PMID: 26999881) Similar Articles
Nonsyndromic 46,XX Testicular Disorders of Sex Development. Délot EC, Vilain EJ. 003 Oct 30 [updated 2015 May 7]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. (PMID: 20301589) Similar Articles

2014 Publications

Disorders of sex development peer support. Baratz AB, Sharp MK, Sandberg DE. Endocr Dev. 2014;27:99-112. (DOI: 10.1159/000363634) (PMID: 25247648) Similar Articles
Digital photographic measurement in hypospadias: validation and comparison to intraoperative measurement. Akhavan A, Merguerian PA, Grady RW, DiSandro M, Shnorhavorian M. J Pediatr Urol. 2014 Apr;10(2):312-6. (DOI: 10.1016/j.jpurol.2013.10.012) (PMID: 24291248) Similar Articles
Multidisciplinary care for individuals with disorders of sex development. Gomez-Lobo V. Curr Opin Obstet Gynecol. 2014 Oct;26(5):366-71. (DOI: 10.1097/GCO.0000000000000101) (PMID: 25110979) Similar Articles
DSDs: genetics, underlying pathologies and psychosexual differentiation. Arboleda VA, Sandberg DE, Vilain E. Nat Rev Endocrinol. 2014 Oct;10(10):603-15. (DOI: 10.1038/nrendo.2014.130) (PMID: 2509173) Similar Articles
Unbiased identification of patients with disorders of sex development. Hanauer DA, Gardner M, Sandberg DE. PLoS One. 2014 Sep 30;9(9):e108702. (DOI: 10.1371/journal.pone.0108702) (PMID: 25268640) Similar Articles
Regulation of sex determination in mice by a non-coding genomic region. Arboleda VA, Fleming A, Barseghyan H, Délot E, Sinsheimer JS, Vilain E. Genetics. 2014 Jul;197(3):885-97. (DOI: 10.1534/genetics.113.160259) (PMID: 24793290) Similar Articles
Exome sequencing for the diagnosis of 46,XY disorders of sex development. Baxter RM, Arboleda VA, Lee H, Barseghyan H, Adam MP, Fechner PY, Bargman R, Keegan C, Travers S, Schelley S, Hudgins L, Mathew RP, Stalker HJ, Zori R, Gordon OK, Ramos-Platt L, Pawlikowska-Haddal A, Eskin A, Nelson SF, Délot E, Vilain E. J Clin Endocrinol Metab. 2015 Feb;100(2):E333-44. (DOI: 10.1210/jc.2014-2605) (PMID: 25383892) Similar Articles
Management of children with disorders of sex development: new care standards explained. Ahmed, S. F., Gardner, M., & Sandberg, D. E. (2014). Psychology & Sexuality, 5(1), 5-14 (https://doi.org/10.1080/19419899.2013.831211)
A noncategorical approach to the psychosocial care of persons with DSD and their families. Sandberg, D. E., & Mazur, T. (2014). In B. P. C. Kreukels, T. D. Steensma, & A. L. C. de Vries (Eds.), Gender Dysphoria and Disorders of Sex Development (pp. 93-114). Springer (https://doi.org/10.1007/978-1-4614-7441-8_5)

2013 Publications

Elements of morphology: standard terminology for the external genitalia. Hennekam RC, Allanson JE, Biesecker LG, Carey JC, Opitz JM, Vilain E. Am J Med Genet A. 2013 Jun;161A(6):1238-63. (DOI: 10.1002/ajmg.a.35934) (PMID: 23650202) Similar Articles
Translational genetics for diagnosis of human disorders of sex development. Baxter RM, Vilain E. Annu Rev Genomics Hum Genet. 2013;14:371-92. (DOI: 10.1146/annurev-genom-091212-153417) (PMID: 23875799) Similar Articles

2012 Publications

Psychological aspects of the treatment of patients with disorders of sex development. Sandberg DE, Gardner M, Cohen-Kettenis PT. Semin Reprod Med. 2012 Oct;30(5):443-52. (DOI: 10.1055/s-0032-1324729) (PMID: 23044882) Similar Articles
Management of disorders of sex development: editorial commentary. Sandberg DE. Pediatr Clin North Am. 2012 Aug;59(4):871-80. (DOI: 10.1016/j.pcl.2012.05.010) (PMID: 22857834) Similar Articles
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell’Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E. Nat Genet. 2012 May 27;44(7):788-92. (DOI: 10.1038/ng.2275) (PMID: 22634751) Similar Articles
Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development. Arboleda VA, Lee H, Sánchez FJ, Délot EC, Sandberg DE, Grody WW, Nelson SF, Vilain E. (DOI: 10.1111/j.1399-0004.2012.01879.x) (PMID: 22435390) Similar Articles