Research & Literature

Fertility Issues in Disorders of Sex Development.

Guercio G, Costanzo M, Grinspon RP, Rey RA

Endocrinology and metabolism clinics of North America 2015; (44(4)):867-81.

[Diagnosis and treatment of ovotesticular disorder of sex development: A report of 2 cases].

Wang JQ, Wang DW, Liu C, et al.

Zhonghua nan ke xue = National journal of andrology 2015; (21(10)):917-20.

Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care.

Lee PA, Nordenström A, Houk CP, et al.

Hormone research in paediatrics 2016; (85(3)):158-80 doi:10.1159/000442975.

Gonadoblastoma and Papillary Tubal Hyperplasia in Ovotesticular Disorder of Sexual Development.

Şimşek E, Binay Ç, Demiral M, et al.

Journal of clinical research in pediatric endocrinology 2016; (8(3)):351-5 doi:10.4274/jcrpe.2705.

Anti-Müllerian hormone as a marker of steroid and gonadotropin action in the testis of children and adolescents with disorders of the gonadal axis.

Edelsztein NY, Grinspon RP, Schteingart HF, Rey RA

International journal of pediatric endocrinology 2016; (2016()):20 doi:10.1186/s13633-016-0038-2.

Presence of Germ Cells in Disorders of Sex Development: Implications for Fertility Potential and Preservation.

Finlayson C, Fritsch MK, Johnson EK, et al.

The Journal of urology 2017; (197(3 Pt 2)):937-943 doi:10.1016/j.juro.2016.08.108.

The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development)
.

Greeley SA, Littlejohn E, Husain AN, et al.

Hormone research in paediatrics 2017; (87(3)):205-212 doi:10.1159/000455142.

Ovotestis in Adolescence: 2 Case Reports.

Chouhan JD, Chu DI, Birs A, et al.

Urology 2017; (105()):171-174 doi:10.1016/j.urology.2017.04.009.

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.

Disorders of sex development.

Witchel SF

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

A case report of ovotesticular disorder of sex development (OT-DSD) in a baboon (Papio spp.) and a brief review of the non-human primate literature.

Perminov E, Mangosing S, Confer A, et al.

Journal of medical primatology 2018; (47(3)):192-197 doi:10.1111/jmp.12339.

Intersex Activists in Israel: Their Achievements and the Obstacles They Face.

Meoded Danon L

Journal of bioethical inquiry 2018; (15(4)):569-578 doi:10.1007/s11673-018-9877-2.

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.

Croft B, Ohnesorg T, Hewitt J, et al.

Nature communications 2018; (9(1)):5319 doi:10.1038/s41467-018-07784-9.

Utilization of a shared decision-making tool in a female infant with congenital adrenal hyperplasia and genital ambiguity.

Chawla R, Weidler EM, Hernandez J, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2019; (32(6)):643-646 doi:10.1515/jpem-2018-0567.

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.

Endocrine Management of Ovotesticular DSD, an Index Case and Review of the Literature.

Kilberg MJ, McLoughlin M, Pyle LC, Vogiatzi MG

Pediatric endocrinology reviews : PER 2019; (17(2)):110-116 doi:10.17458/per.vol17.2019.kmv.endocrineovotesticulardsd.

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.

'Does anyone else have this?' The role of emotion in forum discussions about medical conditions affecting sex characteristics.

Roen K, Carlquist E, Prøitz L

Culture, health & sexuality 2021; (23(1)):52-67 doi:10.1080/13691058.2019.1688867.

Gonadal Dominance and Internal Genitalia Phenotypes of Patients with Ovotesticular Disorders of Sex Development: Report of 22 Cases and Literature Review.

Deng S, Sun A, Chen R, et al.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2019; (13(4)):187-194 doi:10.1159/000507036.

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development.

Bever YV, Brüggenwirth HT, Wolffenbuttel KP, et al.

Journal of medical genetics 2020; (57(9)):581-589 doi:10.1136/jmedgenet-2019-106354.

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.

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.

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.

Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome.

Manotas MC, García-Acero M, González DM, et al.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2020; (14(1-6)):12-20 doi:10.1159/000512803.

Ovotesticular Disorder of Sexual Development and Non-Palpable Testis.

Štichhauer R, Šafus A, Neumann D, et al.

Acta medica (Hradec Kralove) 2021; (64(1)):42-45 doi:10.14712/18059694.2021.7.

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.

Surgery in Chinese children affected by 45,X/46,XY disorders of sex development: A 20-year experience in a single center.

Wong YS, Pang KKY, Tam YH

Journal of pediatric surgery 2022; (57(7)):1398-1403 doi:10.1016/j.jpedsurg.2021.05.018.

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.

Ovotesticular Disorder of Sex Development: Approach and Management of an Index Case in the Dominican Republic.

De Jesus Escano MR, Mejia Sang ME, Reyes-Mugica M, et al.

Cureus 2021; (13(10)):e18512 doi:10.7759/cureus.18512.

Mixed gonadal dysgenesis with an ovotestis on imaging mimicking ovotesticular disorder of sexual differentiation.

Fine S, Ford K, Trotter B, et al.

Proceedings (Baylor University. Medical Center) 2021; (34(6)):739-741 doi:10.1080/08998280.2021.1951052.

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.

Gonadal tumor development in 46,XX disorders of gonadal development.

Costanzo M, Touzon MS, Marino R, et al.

European journal of endocrinology 2022; (187(3)):451-462 doi:10.1530/EJE-22-0283.

Gonadal tumor risk in pediatric and adolescent phenotypic females with disorders of sex development and Y chromosomal constitution with different genetic etiologies.

Lu L, Luo F, Wang X

Frontiers in pediatrics 2022; (10()):856128 doi:10.3389/fped.2022.856128.

Medicalization of intersex and resistance: a commentary on Conway.

Liao LM, Baratz A

International journal of impotence research 2023; (35(1)):51-55 doi:10.1038/s41443-022-00597-x.

First Adolescent Romantic and Sexual Experiences in Individuals With Differences of Sex Development/Intersex Conditions.

de Brouwer IJ, Suijkerbuijk M, van de Grift TC, Kreukels BPC

The Journal of adolescent health : official publication of the Society for Adolescent Medicine 2022; (71(6)):688-695 doi:10.1016/j.jadohealth.2022.07.012.

Challenges Waiting for an Adult with DSD.

Nowotny HF, Reisch N

Hormone research in paediatrics 2023; (96(2)):207-221 doi:10.1159/000527433.

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.

Ethical concerns surrounding sex prediction using noninvasive prenatal screening from pediatric endocrinologists' perspective.

Kamoun C, Rossi W, Kilberg MJ

Journal of genetic counseling 2023; (32(5)):937-941 doi:10.1002/jgc4.1649.

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.

Healthcare communication satisfaction and psychosocial outcomes in adolescents and young adults with differences of sex development.

Liles SM, Crerand CE, Buchanan C, et al.

Patient education and counseling 2024; (125()):108294 doi:10.1016/j.pec.2024.108294.

Mixed Gonadal Dysgenesis: A Narrative Literature Review and Clinical Primer for the Urologist.

Corona LE, Lee VS, Weisman AG, et al.

The Journal of urology 2024; (212(5)):660-671 doi:10.1097/JU.0000000000004137.

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.

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.

46, XY under-virilization and NR5A1 variants: Monocentric Indian experience and systematic review.

Kumar S, Pandit R, Sarathi V, et al.

Annales d'endocrinologie 2025; (86(4)):101731 doi:10.1016/j.ando.2025.101731.

Retrospective analysis of children with 46,XX testicular/ovotesticular DSD: a 10-year single-center experience.

Gong Y, Yin X, Xu J, et al.

Frontiers in endocrinology 2025; (16()):1571467 doi:10.3389/fendo.2025.1571467.

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 Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD.

Sepich M, Bertelloni S, Tyutyusheva N, et al.

The Journal of clinical endocrinology and metabolism 2026; (111(5)):e1356-e1363 doi:10.1210/clinem/dgaf603.

Ovotesticular disorder of sex development presenting as gynecomastia in a phenotypic male adolescent: a case report and literature insights.

Gaur BK, Gupta S

Hormone molecular biology and clinical investigation 2025; (46(4)):183-187 doi:10.1515/hmbci-2025-0061.

Approach to the patient: comprehensive multidisciplinary care for adolescents with difference in sex development (DSD).

Claahsen-van der Grinten HL, van Herwaarden A, Kempers M, et al.

The Journal of clinical endocrinology and metabolism 2026; (111(4)):e1183-e1194 doi:10.1210/clinem/dgag023.