Research & Literature

Ethical issues in decision-making for infants with disorders of sex development.

Kon AA

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2015; (47(5)):340-3 doi:10.1055/s-0035-1547269.

Ambiguous genitalia: A rare case report.

Agarwal PK, Ali M, Ranjan R, Pandey A

Indian journal of pathology & microbiology 2016; (59(1)):72-4 doi:10.4103/0377-4929.178229.

Surgery in disorders of sex development (DSD) with a gender issue: If (why), when, and how?

Mouriquand PD, Gorduza DB, Gay CL, et al.

Journal of pediatric urology 2016; (12(3)):139-49.

The genetic make-up of ovarian development and function: the focus on the transcription factor FOXL2.

Elzaiat M, Todeschini AL, Caburet S, Veitia RA

Clinical genetics 2017; (91(2)):173-182 doi:10.1111/cge.12862.

The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience.

Ganie Y, Aldous C, Balakrishna Y, Wiersma R

Hormone research in paediatrics 2017; (87(5)):307-314 doi:10.1159/000466693.

45,X/46,XY ovotesticular disorder of sex development revisited: undifferentiated gonadal tissue may be mistaken as ovarian tissue.

Andrade JGR, Andrade LALA, Guerra-Junior G, Maciel-Guerra AT

Journal of pediatric endocrinology & metabolism : JPEM 2017; (30(8)):899-904.

[Advances in the diagnosis and hormone replacement treatment of 46, XY disorders of sex development].

Tian HJ, Zhang JW, Wu DH, et al.

Zhonghua nan ke xue = National journal of andrology 2016; (22(9)):843-849.

46,XY ovotesticular disorders of sex development: A therapeutic challenge.

Scarpa MG, Grazia MD, Tornese G

Pediatric reports 2017; (9(4)):7085 doi:10.4081/pr.2017.7085.

Disorders of sex development.

Witchel SF

Best practice & research. Clinical obstetrics & gynaecology 2018; (48()):90-102 doi:10.1016/j.bpobgyn.2017.11.005.

Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.

Tallapaka K, Venugopal V, Dalal A, Aggarwal S

American journal of medical genetics. Part A 2018; (176(4)):1006-1010 doi:10.1002/ajmg.a.38646.

Duplication of SOX9 associated with 46,XX ovotesticular disorder of sex development.

López-Hernández B, Méndez JP, Coral-Vázquez RM, et al.

Reproductive biomedicine online 2018; (37(1)):107-112 doi:10.1016/j.rbmo.2018.03.017.

Does Patient-centered Care Change Genital Surgery Decisions? The Strategic Use of Clinical Uncertainty in Disorders of Sex Development Clinics.

Timmermans S, Yang A, Gardner M, et al.

Journal of health and social behavior 2018; (59(4)):520-535 doi:10.1177/0022146518802460.

Baseline Characteristics of Infants With Atypical Genital Development: Phenotypes, Diagnoses, and Sex of Rearing.

Finlayson C, Rosoklija I, Aston CE, et al.

Journal of the Endocrine Society 2019; (3(1)):264-272 doi:10.1210/js.2018-00316.

Clinical and genetic analysis in males with 46,XX disorders of sex development: A reproductive centre experience of 144 cases.

Chen T, Tian L, Wu F, et al.

Andrologia 2019; (51(4)):e13232 doi:10.1111/and.13232.

Psychological perspectives to early surgery in the management of disorders/differences of sex development.

Wisniewski AB, Tishelman AC

Current opinion in pediatrics 2019; (31(4)):570-574 doi:10.1097/MOP.0000000000000784.

Predictors of Psychosocial Distress in Parents of Young Children with Disorders of Sex Development.

Perez MN, Delozier AM, Aston CE, et al.

The Journal of urology 2019; (202(5)):1046-1051 doi:10.1097/JU.0000000000000424.

A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report

Mengen E, Kayhan G, Kocaay P, Uçaktürk SA

Journal of clinical research in pediatric endocrinology 2020; (12(3)):308-314 doi:10.4274/jcrpe.galenos.2019.2019.0101.

Prenatal detection and evaluation of differences of sex development.

Finney EL, Finlayson C, Rosoklija I, et al.

Journal of pediatric urology 2020; (16(1)):89-96 doi:10.1016/j.jpurol.2019.11.005.

Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis.

Kim YM, Oh A, Kim KS, et al.

Annals of pediatric endocrinology & metabolism 2019; (24(4)):231-236 doi:10.6065/apem.2019.24.4.231.

True hermaphroditism with dysgerminoma: A case report.

Chen CQ, Liu Z, Lu YS, et al.

Medicine 2020; (99(22)):e20472 doi:10.1097/MD.0000000000020472.

An experimental philosophical bioethical study of how human rights are applied to clitorectomy on infants identified as female and as intersex.

Smith A, Hegarty P

Culture, health & sexuality 2021; (23(4)):548-563 doi:10.1080/13691058.2020.1788164.

Molecular Aspects of Sex Development in Mammals: New Insight for Practice.

Audí L, Bertelloni S, Flück CE

International journal of molecular sciences 2020; (21(23)) doi:10.3390/ijms21239146.

A novel approach in the intraoperative management of ovotesticular DSD.

Delforge X, Brachet C, Damry N, et al.

Journal of pediatric urology 2020; (16(6)):768-770 doi:10.1016/j.jpurol.2020.10.007.

SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis.

Lambert S, Peycelon M, Samara-Boustani D, et al.

Clinical endocrinology 2021; (94(4)):667-676 doi:10.1111/cen.14389.

[Disorders of sex differentiation: state of the problem 15 years after the Chicago consensus].

Shiryaev ND, Kagantsov IM, Sizonov VV

Problemy endokrinologii 2020; (66(3)):70-80 doi:10.14341/probl12514.

Ovotesticular Disorder of Sex Development in Korean Children: A Single-Center Analysis over a 30-Year Period.

Kim HI, Lee I, Kim SH, et al.

Journal of pediatric and adolescent gynecology 2021; (34(5)):626-630 doi:10.1016/j.jpag.2021.02.105.

Disorders of sexual differentiation: Report of two rare cases.

Correya MA, Babu R, Archana B, Ravirajendiran S

Indian journal of pathology & microbiology 2021; (64(2)):390-393 doi:10.4103/IJPM.IJPM_358_20.

Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021).

Ahmed SF, Achermann J, Alderson J, et al.

Clinical endocrinology 2021; (95(6)):818-840 doi:10.1111/cen.14528.

The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature Review.

Zhuang J, Chen C, Li J, et al.

Frontiers in pediatrics 2021; (9()):682846 doi:10.3389/fped.2021.682846.

Laparoscopic gonad-sparing procedure in Ovotesticular disorder of sex development - Case video technique.

Rombaldi MC, da Silva Azenha MV, de Paula LCP, et al.

Journal of pediatric urology 2021; (17(4)):583-584 doi:10.1016/j.jpurol.2021.06.034.

Ovotesticular Difference of Sex Development: Genetic Background, Histological Features, and Clinical Management.

Syryn H, Van De Vijver K, Cools M

Hormone research in paediatrics 2023; (96(2)):180-189 doi:10.1159/000519323.

46 XY Ovotesticular Disorder: A Rare Case Report with Review of Literature.

Meenal B, Meenakshi G, Pratibha S, et al.

Gynecology and minimally invasive therapy 2021; (10(3)):171-173 doi:10.4103/GMIT.GMIT_107_19.

Successful in Vitro Fertilization Pregnancy and Delivery by an Infertile Woman with Ovotesticular Disorder of Sex Development: A Case Report.

Matsuda S, Kuwabara Y, Kato R, et al.

Journal of Nippon Medical School = Nippon Ika Daigaku zasshi 2023; (90(2)):240-244 doi:10.1272/jnms.JNMS.2023_90-202.

'It was Supposed to be a Secret': a study of disclosure and stigma as experienced by adults with differences of sex development.

Mediå LM, Fauske L, Sigurdardottir S, et al.

Health psychology and behavioral medicine 2022; (10(1)):579-595 doi:10.1080/21642850.2022.2102018.

Robotic excision of vaginal pouch in ovotesticular disorder of sexual development.

Singh P, Kumar S, Panaiyadiyan S, Dogra PN

International braz j urol : official journal of the Brazilian Society of Urology 2022; (48(6)):994-995 doi:10.1590/S1677-5538.IBJU.2022.0038.

Clinical tools in the diagnosis of disorders of sex development: a switch from the hormonal to the genetics laboratory?

Rey RA

Advances in laboratory medicine 2021; (2(4)):463-467 doi:10.1515/almed-2021-0072.

Differences of Sex Development: Current Issues and Controversies.

Johnson EK, Whitehead J, Cheng EY

The Urologic clinics of North America 2023; (50(3)):433-446 doi:10.1016/j.ucl.2023.04.010.

45,X/46,XX at amniocentesis associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and in different amniocenteses and a favorable fetal outcome with a normal karyotype at birth.

Chen CP, Wu FT, Pan YT, et al.

Taiwanese journal of obstetrics & gynecology 2023; (62(4)):586-587 doi:10.1016/j.tjog.2023.05.005.

46, XX Male Disorder of Sexual Development.

Flannery C, Agha A

Irish medical journal 2021; (114(1)):243.

Gender Dysphoria in a Patient With Ovotesticular Disorder of Sex Development.

Moreno T, Ribeiro S, Rodrigues P

JCEM case reports 2024; (2(1)):luad159 doi:10.1210/jcemcr/luad159.

Psychological support for individuals with differences of sex development (DSD).

Bennecke E, Strandqvist A, De Vries A, et al.

Journal of psychosomatic research 2024; (179()):111636 doi:10.1016/j.jpsychores.2024.111636.

Contexts of care for people with differences of sex development: Diversity is still missing in the laboratory routine.

Kulle AE, Jürgensen M, Döhnert U, et al.

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 2023; (35(3)):181-187 doi:10.1515/medgen-2023-2037.

Perspectives on conducting "sex-normalising" intersex surgeries conducted in infancy: A systematic review.

Muschialli L, Allen CL, Boy-Mena E, et al.

PLOS global public health 2024; (4(8)):e0003568 doi:10.1371/journal.pgph.0003568.

Exploring caregiver experiences of communicating with children about differences of sex development (DSD).

Kimball A, Rutter MM, Kavanaugh G, Fishler K

Patient education and counseling 2025; (130()):108470 doi:10.1016/j.pec.2024.108470.

Phenotypes Linked to Duplication Upstream of SOX9: New Insights Into Presentation and Diagnosis.

Unal E, Tekmenuray-Unal A, Cayir A, et al.

The Journal of clinical endocrinology and metabolism 2025; (110(10)):e3482-e3488 doi:10.1210/clinem/dgaf020.

Family functioning in adolescents and young adults with differences of sex development.

Papadakis JL, Buchanan CL, Chan YM, et al.

Journal of pediatric psychology 2025; (50(2)):233-242 doi:10.1093/jpepsy/jsae106.

Ovotesticular Disorders of Sexual Development: Diagnostic, Therapeutic, and Evolutionary Aspects.

Ndoye NA, Cissé L, Dial CMM, et al.

Journal of pediatric surgery 2025; (60(4)):162187 doi:10.1016/j.jpedsurg.2025.162187.

Evolving language reflects evolving understanding: updated terms for anatomical description in i/VSC/DSD.

Whitehead J, Adams M, Davies A, et al.

Nature reviews. Urology 2025; (22(6)):332-333 doi:10.1038/s41585-025-01035-5.

Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development.

Yoon H, Kim D, Kim JH, et al.

Annals of pediatric endocrinology & metabolism 2025; (30(2)):77-85 doi:10.6065/apem.2448122.061.

An Unusual and Late Presentation of 46, XY Ovotesticular Difference of Sex Development.

Elsa Mathew U, Arun CS, George V, et al.

JCEM case reports 2025; (3(8)):luaf115 doi:10.1210/jcemcr/luaf115.

Hormone replacement in disorders of sex development, and long-term effects.

Nordenström A, Mangone A, Mantovani G

Best practice & research. Clinical endocrinology & metabolism 2025; (39(4)):102022 doi:10.1016/j.beem.2025.102022.

Gonadal Genetics and Germ Cell Tumor Risk in SRY-Negative 46,XX Testicular/Ovotesticular Disorders of Sex Development.

Yang H, Tian H, Wu D, et al.

Hormone research in paediatrics 2025; 1-9 doi:10.1159/000548934.

Clinical features and genetic characteristics of ovotesticular disorders of sex development: 24 cases from a single center.

Li D, Tang X, Zhao T, et al.

World journal of urology 2025; (44(1)):51 doi:10.1007/s00345-025-06143-w.

Clinical practice guidelines for the management of differences of sex development in Japan.

Ishii T, Kashimada K, Kawai M, et al.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2026; (35(1)):1-49 doi:10.1297/cpe.2025-0073.

Sex-determining Region of Y-gene Translocation and 46,XX Testicular Disorders of Sex Development: Cytogenetic and Molecular Insights into Male Infertility.

Priya PK, Patel H, Dalal D, Shah A

Journal of human reproductive sciences 2025; (18(4)):254-258 doi:10.4103/jhrs.jhrs_167_25.