Research & Literature

Characterizing Early Psychosocial Functioning of Parents of Children with Moderate to Severe Genital Ambiguity due to Disorders of Sex Development.

Suorsa KI, Mullins AJ, Tackett AP, et al.

The Journal of urology 2015; (194(6)):1737-42.

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.

Efficacy and safety of testosterone replacement therapy in men with hypogonadism: A meta-analysis study of placebo-controlled trials.

Guo C, Gu W, Liu M, et al.

Experimental and therapeutic medicine 2016; (11(3)):853-863 doi:10.3892/etm.2015.2957.

46 XX karyotype during male fertility evaluation; case series and literature review.

Majzoub A, Arafa M, Starks C, et al.

Asian journal of andrology 2017; (19(2)):168-172 doi:10.4103/1008-682X.181224.

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.

Bashamboo A, Donohoue PA, Vilain E, et al.

Human molecular genetics 2016; (25(16)):3446-3453 doi:10.1093/hmg/ddw186.

[Analysis of clinical features and related genes variation in five patients with 46, XX male syndrome].

Qin XY, Dong WK, Wang W, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2016; (54(11)):840-843 doi:10.3760/cma.j.issn.0578-1310.2016.11.010.

Gender of rearing and psychosocial aspect in 46 XX congenital adrenal hyperplasia.

Gangaher A, Jyotsna VP, Chauhan V, et al.

Indian journal of endocrinology and metabolism 2016; (20(6)):870-877 doi:10.4103/2230-8210.192922.

Blood donation and testosterone replacement therapy.

Chin-Yee B, Lazo-Langner A, Butler-Foster T, et al.

Transfusion 2017; (57(3)):578-581 doi:10.1111/trf.13970.

The prostatic utricle: An under-recognized condition resulting in significant morbidity in boys with both hypospadias and normal external genitalia.

Hester AG, Kogan SJ

Journal of pediatric urology 2017; (13(5)):492.e1-492.e5 doi:10.1016/j.jpurol.2017.01.019.

Ten cases with 46,XX testicular disorder of sex development: single center experience.

Akinsal EC, Baydilli N, Demirtas A, et al.

International braz j urol : official journal of the Brazilian Society of Urology 2017; (43(4)):770-775 doi:10.1590/S1677-5538.IBJU.2016.0505.

Incidence, prevalence, diagnostic delay, morbidity, mortality and socioeconomic status in males with 46,XX disorders of sex development: a nationwide study.

Berglund A, Johannsen TH, Stochholm K, et al.

Human reproduction (Oxford, England) 2017; (32(8)):1751-1760 doi:10.1093/humrep/dex210.

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.

A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant.

Gomes NL, de Paula LCP, Silva JM, et al.

Clinical genetics 2019; (95(1)):172-176 doi:10.1111/cge.13459.

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.

A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1.

Saito-Hakoda A, Kanno J, Suzuki D, et al.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2019; (13(2)):60-66 doi:10.1159/000496777.

Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature review.

Yue F, Zhang H, Xi Q, et al.

Molecular cytogenetics 2019; (12()):44 doi:10.1186/s13039-019-0456-y.

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.

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.

Testosterone replacement therapy.

Barbonetti A, D'Andrea S, Francavilla S

Andrology 2020; (8(6)):1551-1566 doi:10.1111/andr.12774.

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.

Multiscale analysis of SRY-positive 46,XX testicular disorder of sex development: Presentation of nine cases.

Akar OS, Gunes S, Abur U, et al.

Andrologia 2020; (52(11)):e13739 doi:10.1111/and.13739.

SRY-Positive 46, XX Testicular Disorder of Sexual Development With Leydig Cell Tumor.

Osaka A, Ide H, Matsuoka K, et al.

American journal of men's health 2020; (14(5)):1557988320970071 doi:10.1177/1557988320970071.

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.

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.

[Laparoscopic management of the prostatic utricle cyst in a 4-year-old child].

Efremenkov AM, Kolmakov OY, Efimova VI, et al.

Urologiia (Moscow, Russia : 1999) 2020; 132-136.

Erectile function in SRY positive 46,XX males with normal phenotype.

Yiğman M, Tangal S, Haliloğlu AH, Çağlar GS

Central European journal of urology 2021; (74(1)):95-98 doi:10.5173/ceju.2021.0284.R1.

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.

Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development.

Qian Z, Grand K, Freedman A, et al.

American journal of medical genetics. Part A 2021; (185(9)):2782-2788 doi:10.1002/ajmg.a.62373.

Meta-analysis comparing the outcomes of single stage (foreskin pedicled tube) versus two stage (foreskin free graft & foreskin pedicled flap) repair for proximal hypospadias in the last decade.

Babu R, Chandrasekharam VVS

Journal of pediatric urology 2021; (17(5)):681-689 doi:10.1016/j.jpurol.2021.05.014.

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.

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.

The importance of genetic research in cases of severe male factor infertility: A case of 46,XX testicular disorder of sex development.

Faleiro D, Iser B, Silva AAD, Höher MA

JBRA assisted reproduction 2022; (26(3)):559-562 doi:10.5935/1518-0557.20210092.

Testosterone supplementation and bone parameters: a systematic review and meta-analysis study.

Corona G, Vena W, Pizzocaro A, et al.

Journal of endocrinological investigation 2022; (45(5)):911-926 doi:10.1007/s40618-021-01702-5.

Duplication of SOX3 in an SRY-negative 46,XX male with prostatic utricle: case report and literature review.

Wei J, Liu C, Zhang M, et al.

BMC medical genomics 2022; (15(1)):188 doi:10.1186/s12920-022-01347-0.

Ectopic opening of vasa deferentia into a prostatic utricle cyst.

Eshiba A, Kotb M, Abouheba M

Urology case reports 2022; (45()):102257 doi:10.1016/j.eucr.2022.102257.

A 46,XX Karyotype in Men with Infertility: Two New Cases and Review of the Literature.

Kouvidi E, Tsimela H, Lazaros L, et al.

Journal of human reproductive sciences 2022; (15(3)):307-317 doi:10.4103/jhrs.jhrs_100_22.

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.

A Rare Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45,X Cell Line: (46,X,psu dic(X;Y)(p22.13;q11.221)/45,X/45,psu dic(X;Y)(p22.13;q11.221).

Clement A, Dominot T, Chammas J, et al.

Genes 2022; (14(1)) doi:10.3390/genes14010081.

The impact of testosterone in men's health.

Ide H

Endocrine journal 2023; (70(7)):655-662 doi:10.1507/endocrj.EJ22-0604.

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.

A Case Reported With 46, XX Testicular Disorders Of Sexual Development And Its Possible Association With Dysembryoplastic Neuroepithelial Tumour.

Furqan S, Waleed M, Maan SA, et al.

JPMA. The Journal of the Pakistan Medical Association 2023; (73(8)):1712-1715 doi:10.47391/JPMA.6451.

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.

46,XX disorder of sex development associated with skin abnormalities due to homozygous R-Spondin 1 loss of function mutation.

Divyasri N, Varma P, Kunnuru S, Anne B

BMJ case reports 2024; (17(2)) doi:10.1136/bcr-2023-255466.

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.

Testicular differentiation in 46,XX DSD: an overview of genetic causes.

Ferrari MTM, Silva ESDN, Nishi MY, et al.

Frontiers in endocrinology 2024; (15()):1385901 doi:10.3389/fendo.2024.1385901.

Long-term outcomes in non-CAH 46,XX DSD.

Grouthier V, Bachelot A

Frontiers in endocrinology 2024; (15()):1372887 doi:10.3389/fendo.2024.1372887.

Diagnosis and management of non-CAH 46,XX disorders/differences in sex development.

Yavas Abalı Z, Guran T

Frontiers in endocrinology 2024; (15()):1354759 doi:10.3389/fendo.2024.1354759.

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.

[Genetic and clinical characteristics of 46,XX testicular disorders of sex development].

Ye QL, Fang JZ, Yang XY

Zhonghua nan ke xue = National journal of andrology 2024; (30(2)):118-122.

Application of the modified Byars staged procedure for severe hypospadias repair.

Xie QG, Xue TT, Chen XR, et al.

Asian journal of andrology 2025; (27(1)):65-71 doi:10.4103/aja202470.

Perioperative Testosterone Supplementation Improves Outcomes of Orthopaedic Surgeries: A Systematic Review of Heterogeneous Studies.

Flynn ME, Cohen MF, O'Brien EJ, Domb BG

Arthroscopy : the journal of arthroscopic & related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association 2025; (41(8)):3141-3150 doi:10.1016/j.arthro.2024.12.026.

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.

Clinical and genetic diagnosis of first cohort of differences of sexual development in the Iranian population.

Rastari M, Askari M, McElreavey K, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2025; (38(3)):279-287 doi:10.1515/jpem-2024-0352.

46,XX Testicular Disorder of Sex Development (DSD) Presenting With Male Hypogonadism.

Chin RT, Mok SF

JCEM case reports 2025; (3(2)):luae237 doi:10.1210/jcemcr/luae237.

Cystoscopy to investigate the prevalence of prostatic utricle cyst in boys with proximal hypospadias and its implications in medium-term follow-up.

Wong YS, Tam YH

Frontiers in pediatrics 2025; (13()):1514695 doi:10.3389/fped.2025.1514695.

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.

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.

A Matched Retrospective Analysis: The Relationship Between Testosterone Replacement Therapy and the Incidence of Hip Fractures.

Peresuh SJ, Arcand PH, Confessore J, et al.

The Journal of the American Academy of Orthopaedic Surgeons 2026; (34(3)):e370-e375 doi:10.5435/JAAOS-D-24-01334.

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.

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.