Research & Literature

Cell-based assays for screening androgen receptor ligands.

Campana C, Pezzi V, Rainey WE

Seminars in reproductive medicine 2015; (33(3)):225-34 doi:10.1055/s-0035-1552989.

Androgen insensitivity syndrome.

Mongan NP, Tadokoro-Cuccaro R, Bunch T, Hughes IA

Best practice & research. Clinical endocrinology & metabolism 2015; (29(4)):569-80.

The risk of neoplasm associated with dysgenetic testes in prepubertal and pubertal/adult patients.

Slowikowska-Hilczer J, Szarras-Czapnik M, Wolski JK, et al.

Folia histochemica et cytobiologica 2015; (53(3)):218-26 doi:10.5603/FHC.a2015.0021.

The laparoscopic management of Swyer syndrome: Case series.

Malhotra N, Dadhwal V, Sharma KA, et al.

Journal of the Turkish German Gynecological Association 2015; (16(4)):252-6 doi:10.5152/jtgga.2015.15061.

Mixed Germ Cell Tumour in a Case of Pure Gonadal Dysgenesis (Swyer Syndrome) - A Case Report.

Kumar NP, M V, Mathews A, James FV

Cureus 2016; (8(1)):e459 doi:10.7759/cureus.459.

Utility of Ultrasound and Magnetic Resonance Imaging in Patients with Disorders of Sex Development Who Undergo Prophylactic Gonadectomy.

Alaniz VI, Kobernik EK, Dillman J, Quint EH

Journal of pediatric and adolescent gynecology 2016; (29(6)):577-581 doi:10.1016/j.jpag.2016.03.007.

Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.

Ittiwut C, Pratuangdejkul J, Supornsilchai V, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2017; (30(1)):19-26.

Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment.

Özen S, Onay H, Atik T, et al.

Hormone research in paediatrics 2017; (87(2)):81-87 doi:10.1159/000452995.

A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development.

Pyle LC, Nathanson KL

American journal of medical genetics. Part C, Seminars in medical genetics 2017; (175(2)):304-314 doi:10.1002/ajmg.c.31562.

[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: a study of 194 cases.

Walia R, Singla M, Vaiphei K, et al.

Endocrine connections 2018; (7(2)):364-371 doi:10.1530/EC-18-0022.

Disorders of sex development.

Witchel SF

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

Rare successful pregnancy in a patient with Swyer Syndrome.

Taneja J, Ogutu D, Ah-Moye M

Case reports in women's health 2016; (12()):1-2 doi:10.1016/j.crwh.2016.10.001.

Complete Androgen Insensitivity Syndrome due to Mutations in the DNA-Binding Domain of the Human Androgen Receptor Gene.

Chauhan P, Rani A, Singh SK, Rai AK

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2018; (12(6)):269-274 doi:10.1159/000492261.

Complete androgen insensitivity syndrome and anti-Müllerian hormone levels before and after laparoscopic gonadectomy.

Kusumi M, Mitsunami M, Onoue H, et al.

Gynecology and minimally invasive therapy 2017; (6(3)):126-128 doi:10.1016/j.gmit.2016.11.001.

Management of Gonads in Adults with Androgen Insensitivity: An International Survey.

Tack LJW, Maris E, Looijenga LHJ, et al.

Hormone research in paediatrics 2018; (90(4)):236-246 doi:10.1159/000493645.

Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development.

Loch Batista R, Inácio M, Prado Arnhold IJ, et al.

The Journal of clinical endocrinology and metabolism 2019; (104(4)):1160-1170 doi:10.1210/jc.2018-01866.

Ethical issues with early genitoplasty in children with disorders of sex development.

Harris RM, Chan YM

Current opinion in endocrinology, diabetes, and obesity 2019; (26(1)):49-53 doi:10.1097/MED.0000000000000460.

Parent-Rated Severity of Illness and Anxiety among Caregivers of Children Born with a Disorder of Sex Development Including Ambiguous Genitalia.

Sharkey CM, Bakula DM, Wolfe-Christensen C, et al.

Hormone research in paediatrics 2018; (90(5)):308-313 doi:10.1159/000495422.

Paternity in 5α-Reductase-2 Deficiency: Report of Two Brothers with Spontaneous or Assisted Fertility and Literature Review.

Bertelloni S, Baldinotti F, Baroncelli GI, et al.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2019; (13(2)):55-59 doi:10.1159/000497400.

Plea for a standardized imaging approach to disorders of sex development in neonates: consensus proposal from European Society of Paediatric Radiology task force.

Avni FE, Lerisson H, Lobo ML, et al.

Pediatric radiology 2019; (49(9)):1240-1247 doi:10.1007/s00247-019-04414-4.

Uncertainty and Posttraumatic Stress: Differences Between Mothers and Fathers of Infants with Disorders of Sex Development.

Delozier AM, Gamwell KL, Sharkey C, et al.

Archives of sexual behavior 2019; (48(5)):1617-1624 doi:10.1007/s10508-018-1357-6.

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.

Primary gonadal failure.

Ladjouze A, Donaldson M

Best practice & research. Clinical endocrinology & metabolism 2019; (33(3)):101295 doi:10.1016/j.beem.2019.101295.

Somatic mosaicism of androgen receptor gene in an androgen insensitivity syndrome patient conceived through assisted reproduction technique.

Wang H, Zhu H, Wang N, et al.

Molecular genetics & genomic medicine 2019; (7(10)):e00906 doi:10.1002/mgg3.906.

Disorders or Differences of Sex Development? Views of Affected Individuals on DSD Terminology.

Bennecke E, Köhler B, Röhle R, et al.

Journal of sex research 2021; (58(4)):522-531 doi:10.1080/00224499.2019.1703130.

The risk of mental disorders in patients with disorders/differences of sex differentiation/development (DSD) and Y chromosome.

Bajszczak K, Szarras-Czapnik M, Walczak-Jędrzejowska R, et al.

Endokrynologia Polska 2020; (71(2)):168-175 doi:10.5603/EP.a2020.0005.

Ontogeny of Hypothalamus-Pituitary Gonadal Axis and Minipuberty: An Ongoing Debate?

Bizzarri C, Cappa M

Frontiers in endocrinology 2020; (11()):187 doi:10.3389/fendo.2020.00187.

Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.

Batista RL, Mendonca BB

The application of clinical genetics 2020; (13()):83-96 doi:10.2147/TACG.S198178.

Dysgerminoma in a Prepubertal Girl with Complete 46XY Gonadal Dysgenesis: Case Report and Review of the Literature.

Bumbulienė Ž, Varytė G, Geimanaitė L

Journal of pediatric and adolescent gynecology 2020; (33(5)):599-601 doi:10.1016/j.jpag.2020.04.007.

Androgen Insensitivity Syndrome: A rare genetic disorder.

Fulare S, Deshmukh S, Gupta J

International journal of surgery case reports 2020; (71()):371-373 doi:10.1016/j.ijscr.2020.01.032.

Oncologic outcomes of pre-malignant and invasive germ cell tumors in patients with differences in sex development - A systematic review.

Morin J, Peard L, Vanadurongvan T, et al.

Journal of pediatric urology 2020; (16(5)):576-582 doi:10.1016/j.jpurol.2020.05.002.

Risk of gonadal neoplasia in patients with disorders/differences of sex development.

Slowikowska-Hilczer J, Szarras-Czapnik M, Duranteau L, et al.

Cancer epidemiology 2020; (69()):101800 doi:10.1016/j.canep.2020.101800.

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.

Living with and beyond metastatic non-small cell lung cancer: the survivorship experience for people treated with immunotherapy or targeted therapy.

Lai-Kwon J, Heynemann S, Flore J, et al.

Journal of cancer survivorship : research and practice 2021; (15(3)):392-397 doi:10.1007/s11764-021-01024-8.

Role of cross-campus multidisciplinary team meetings in decision-making for children and adolescents with differences of sex development/intersex.

Vora KA, Hanna CA, Neville KA, et al.

Journal of paediatrics and child health 2021; (57(9)):1402-1407 doi:10.1111/jpc.15474.

18-Year-old patient with Klinefelter syndrome (47, XXY) and complete androgen insensitivity syndrome (CAIS) - case report.

Skalska K, Ziółkowski M, Skoczylas A, et al.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2021; (37(6)):572-575 doi:10.1080/09513590.2021.1921139.

Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype.

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

Frontiers in pediatrics 2021; (9()):627281 doi:10.3389/fped.2021.627281.

"Good practices" in pediatric clinical care for disorders/differences of sex development.

Kavanaugh GL, Mohnach L, Youngblom J, et al.

Endocrine 2021; (73(3)):723-733 doi:10.1007/s12020-021-02748-4.

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.

Malignant Germ Cell Tumors and Their Precursor Gonadal Lesions in Patients with XY-DSD: A Case Series and Review of the Literature.

Steinmacher S, Brucker SY, Kölle A, et al.

International journal of environmental research and public health 2021; (18(11)) doi:10.3390/ijerph18115648.

Clinical, Etiological and Laboratory Profile of Children with Disorders of Sexual Development (DSD)-Experience from a Tertiary Pediatric Endocrine Unit in Western India.

Jahagirdar R, Khadilkar V, Deshpande R, Lohiya N

Indian journal of endocrinology and metabolism 2021; (25(1)):48-53 doi:10.4103/ijem.IJEM_520_20.

Genetics of human sexual development and related disorders.

Martinez de LaPiscina I, Flück CE

Current opinion in pediatrics 2021; (33(6)):556-563 doi:10.1097/MOP.0000000000001066.

Condition openness is associated with better mental health in individuals with an intersex/differences of sex development condition: structural equation modeling of European multicenter data.

van de Grift TC,

Psychological medicine 2023; (53(6)):2229-2240 doi:10.1017/S0033291721004001.

[Genetic analysis of 46,XY disorders of sex development in children caused by a new NR5A1 gene variant].

Gao L, Wang P, Zhang M, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021; (38(11)):1123-1126 doi:10.3760/cma.j.cn511374-20200902-00645.

Exploring the efficacy of testosterone undecanoate in male children with 5α-reductase deficiency.

Liu Y, Fan L, Wang X, Gong C

Pediatric investigation 2021; (5(4)):249-254 doi:10.1002/ped4.12302.

Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing.

De Falco L, Piscopo C, D'Angelo R, et al.

Genes 2021; (12(12)) doi:10.3390/genes12121890.

Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.

Gomes NL, Batista RL, Nishi MY, et al.

The Journal of clinical endocrinology and metabolism 2022; (107(5)):e1797-e1806 doi:10.1210/clinem/dgac064.

"Congruency the ART of Being Real" - 46XY DSD Due to 5 α Reductase Deficiency - Challenges in Decision Making.

Subbiah S, Priyanka R, Jayaraman S

Indian journal of endocrinology and metabolism 2021; (25(5)):392-394 doi:10.4103/ijem.ijem_179_21.

Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline.

Nordenström A, Ahmed SF, van den Akker E, et al.

European journal of endocrinology 2022; (186(6)):G9-G49 doi:10.1530/EJE-22-0073.

Intersexuality/Differences of Sex Development through the Discourse of Intersex People, Their Relatives, and Health Experts: A Descriptive Qualitative Study.

Moreno-Begines MLN, Arroyo-Rodríguez A, Borrallo-Riego Á, Guerra-Martín MD

Healthcare (Basel, Switzerland) 2022; (10(4)) doi:10.3390/healthcare10040671.

A Successful New Case of Twin Pregnancy in a Patient with Swyer Syndrome-An Up-to-Date Review on the Incidence and Outcome of Twin/Multiple Gestations in the Pure 46,XY Gonadal Dysgenesis.

Winkler I, Jaszczuk I, Gogacz M, et al.

International journal of environmental research and public health 2022; (19(9)) doi:10.3390/ijerph19095027.

Techniques of Primary Vaginoplasty in Young Adults with Differences of Sex Development and Female Identification.

Ellerkamp V, Rall KK, Schaefer J, et al.

Journal of clinical medicine 2022; (11(13)) doi:10.3390/jcm11133688.

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.

Expression of CSF1, AR, and SRD5A2 during Postnatal Development of the Boar Reproductive Tract.

Katleba K, Legacki E, Berger T

Animals : an open access journal from MDPI 2022; (12(17)) doi:10.3390/ani12172167.

Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort.

Zidoune H, Ladjouze A, Chellat-Rezgoune D, et al.

Frontiers in genetics 2022; (13()):900574 doi:10.3389/fgene.2022.900574.

Fertility potential in 5α-reductase type 2 deficient males.

Markouli M, Michala L

Journal of pediatric urology 2023; (19(1)):108-114 doi:10.1016/j.jpurol.2022.09.002.

DSD/intersex: historical context and current perspectives.

Lee PA, Mazur T, Houk CP

Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(3)):234-241 doi:10.1515/jpem-2022-0582.

Targeted Next-Generation Sequencing for the Diagnosis of Gene Variants in Patients with 46,XY Disorder of Sex Development.

Guo Q, Zhong WW, Lai HJ, et al.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2023; (17(1)):26-31 doi:10.1159/000528916.

Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations.

Robevska G, Hanna C, van den Bergen J, et al.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2023; (17(1)):8-15 doi:10.1159/000527754.

Scanxiety among Adults with Cancer: A Scoping Review to Guide Research and Interventions.

Derry-Vick HM, Heathcote LC, Glesby N, et al.

Cancers 2023; (15(5)) doi:10.3390/cancers15051381.

Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls.

Guaragna-Filho G, Guerra-Junior G, Tadokoro-Cuccaro R, et al.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2023; (17(1)):16-25 doi:10.1159/000526997.

Seminoma in 46, XY Gonadal Dysgenesis: Rare Presentation and Review of the Literature

Adra M, Nakanishi H, Papachristodoulou E, et al.

Journal of clinical research in pediatric endocrinology 2024; (16(4)):495-500 doi:10.4274/jcrpe.galenos.2023.2023-12-11.

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.

Survey of maternal anxiety and perceptions towards foetal MRI and pre-scan education.

Plunkett S, Dobeli K, Prior M, Tusek X

Journal of medical radiation sciences 2024; (71(1)):10-20 doi:10.1002/jmrs.725.

Surgical Decision-Making for Individuals with Differences of Sex Development: Stakeholders' views.

Weidler EM, Gardner M, Suorsa-Johnson KI, et al.

Frontiers in urology 2023; (3()) doi:10.3389/fruro.2023.1092256.

Fear of giving birth alone: Experiences of psychological distress, symptoms of anxiety and depression, and coping- strategies of childbearing women during COVID-19.

Johnson MS, Skjerdingstad N, Ebrahimi OV, et al.

Midwifery 2024; (131()):103951 doi:10.1016/j.midw.2024.103951.

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.

Gene Expression in Porcine Bulbourethral Glands.

Noto V, Nitta-Oda BJ, Berger T

Animals : an open access journal from MDPI 2024; (14(7)) doi:10.3390/ani14071115.

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.

Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.

Jiali C, Huifang P, Yuqing J, et al.

Frontiers in genetics 2024; (15()):1387598 doi:10.3389/fgene.2024.1387598.

Development of Quality Indicators to Evaluate the Quality of Care for People with Differences of Sex Development.

Jürgensen M, Jürgensen M, Rapp M, et al.

Hormone research in paediatrics 2025; (98(6)):699-708 doi:10.1159/000540596.

Defining Success in the Delivery of Fertility-Related Care for Patients with Differences of Sex Development.

Streich-Tilles T, Morrison A, Schafer-Kalkhoff T, et al.

Hormone research in paediatrics 2026; (99(1)):81-90 doi:10.1159/000541029.

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.

Germ Cell Tumors in 46, XY Gonadal Dysgenesis.

Misgar RA, Islam Mir SU, Mir MH, et al.

Indian journal of endocrinology and metabolism 2024; (28(4)):424-428 doi:10.4103/ijem.ijem_373_22.

Molecular genetic diagnosis and surgical management in a cohort of children with 46,XY disorders/differences of sex development.

Wong YS, Luk HM, Yau HC, et al.

Frontiers in pediatrics 2025; (13()):1456227 doi:10.3389/fped.2025.1456227.

Complete androgen insensitivity syndrome in twins with discordant phenotypes: a case report and review of the literature.

Liao K, Wang Y, Yi X

Journal of medical case reports 2025; (19(1)):113 doi:10.1186/s13256-025-05139-9.

Infertility management in a patient with Swyer syndrome: a case report.

Krygere L, Bartasiene R, Kozlovskaja-Gumbriene A, Drejeriene E

Journal of assisted reproduction and genetics 2025; (42(5)):1689-1695 doi:10.1007/s10815-025-03442-4.

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.

Role of the pediatrician in the initial management of a newborn with Differences of Sex Development or hypospadias.

van der Straaten S, Syryn H, Dessens A, et al.

European journal of pediatrics 2025; (184(5)):307 doi:10.1007/s00431-025-06140-6.

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.

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.

Diagnostic Accuracy of Serum Steroids and Peptides in the Evaluation of 46, XY Disorders of Sex Development (DSD).

Barnabas R, Lila AR, Memon SS, et al.

Clinical endocrinology 2025; (103(6)):823-832 doi:10.1111/cen.70017.

Molecular Characterization of Steroid 5 Alpha-Reductase 2 (SRD5A2) Gene Variant in Indian Patients with Disorder of Sexual Development.

Kumar A, Kumar A, Rai S, et al.

Archives of sexual behavior 2025; (54(7)):2755-2761 doi:10.1007/s10508-025-03197-0.

Gender Dysphoria in Disorders of Sexual Development: Approach and Prevalence in a Single Center.

Inayath L, Mane S, Athawale HR

Journal of Indian Association of Pediatric Surgeons 2025; (30(5)):611-621 doi:10.4103/jiaps.jiaps_60_25.

Complete androgen insensitivity syndrome in a 15-year-old female with primary amenorrhea and undescended testes: a rare case report.

Zerin F, Bhadra TK, Sadia R, Shahriar Z

Radiology case reports 2026; (21(1)):329-332 doi:10.1016/j.radcr.2025.09.075.

Clinical Spectrum, Surgical Management, and Outcomes of NR5A1-Related 46,XY Differences of Sex Development: A Narrative Review.

Vicario S, Escolino M, Esposito G, et al.

Medicina (Kaunas, Lithuania) 2025; (61(11)) doi:10.3390/medicina61111965.

Perspective on postoperative hormone replacement therapy and fertility preservation in Swyer syndrome with dysgerminoma: a case series and literature review.

Liang J, Wu T, Feng X, et al.

European journal of obstetrics, gynecology, and reproductive biology 2026; (317()):114857 doi:10.1016/j.ejogrb.2025.114857.

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

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

Endocrine journal 2026; (73(2)):291-340 doi:10.1507/endocrj.EJ25-0392.

Molecular Diagnosis of 46,XY Disorders of Sex Development: An Efficient Initial Molecular Analysis Using a Custom-Designed Targeted Gene Panel in a Single-Center Study.

Poyrazoglu S, Aghayev A, Toksoy G, et al.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2026; (20(1-6)):15-25 doi:10.1159/000550371.

Approach to Disorders of Sex Development in the Genomic Era.

Priyadarshini S, Sharma R, Menon PSN

Indian journal of pediatrics 2026; doi:10.1007/s12098-025-05888-x.

Clinical Characteristics and Management of Two Cases of Complete Androgen Insensitivity Syndrome With Germ Cell Tumors.

Wang F, Wang D, Li J, Xing N

Cancer reports (Hoboken, N.J.) 2026; (9(2)):e70491 doi:10.1002/cnr2.70491.