Research & Literature

Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.

Mazen I, Abdel-Hamid M, Mekkawy M, et al.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2016; (10(3)):147-51 doi:10.1159/000445983.

Incidence, Prevalence, Diagnostic Delay, and Clinical Presentation of Female 46,XY Disorders of Sex Development.

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

The Journal of clinical endocrinology and metabolism 2016; (101(12)):4532-4540 doi:10.1210/jc.2016-2248.

17α-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS.

Wu C, Fan S, Qian Y, et al.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2017; (23(5)):576-582 doi:10.4158/EP161610.OR.

Risk factors and surveillance for reduced bone mineral density in pediatric cancer survivors.

Siegel DA, Claridy M, Mertens A, et al.

Pediatric blood & cancer 2017; (64(9)) doi:10.1002/pbc.26488.

Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis.

Keskin M, Savaş-Erdeve Ş, Kurnaz E, et al.

The Turkish journal of pediatrics 2016; (58(5)):538-540.

Unexpected diagnosis of stage IIA dysgerminoma in streak gonad in a patient with Swyer syndrome: a case report.

Yada-Hashimoto N, Komura H, Nagata S, et al.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2018; (34(6)):464-466 doi:10.1080/09513590.2017.1395844.

Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import.

Wang X, Xue M, Zhao M, et al.

Gene 2018; (651()):143-151 doi:10.1016/j.gene.2018.01.076.

A Case of Primary Amenorrhea with Swyer Syndrome.

Priya PK, Mishra VV, Choudhary S, Rizvi JS

Journal of human reproductive sciences 2017; (10(4)):310-312 doi:10.4103/jhrs.JHRS_128_17.

Estrogen Replacement in Turner Syndrome: Literature Review and Practical Considerations.

Klein KO, Rosenfield RL, Santen RJ, et al.

The Journal of clinical endocrinology and metabolism 2018; (103(5)):1790-1803 doi:10.1210/jc.2017-02183.

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.

Novel NR5A1 mutations found in Chinese patients with 46, XY disorders of sex development.

Yu B, Liu Z, Gao Y, et al.

Clinical endocrinology 2018; (89(5)):613-620 doi:10.1111/cen.13831.

Sex hormone replacement therapy for individuals with Turner syndrome.

Backeljauw P, Klein K

American journal of medical genetics. Part C, Seminars in medical genetics 2019; (181(1)):13-17 doi:10.1002/ajmg.c.31685.

Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum.

da Silva TE, Gomes NL, Lerário AM, et al.

The Journal of clinical endocrinology and metabolism 2019; (104(12)):5923-5934 doi:10.1210/jc.2019-00984.

Atypical Presentation of Swyer Syndrome.

Dural O, Evruke I, Can S, et al.

Journal of pediatric and adolescent gynecology 2019; (32(6)):645-647 doi:10.1016/j.jpag.2019.07.007.

A novel SRY gene mutation c.266 A>T (p.E89V) in a 46,XY complete gonadal dysgenesis patient.

Raveendran SK, Ramachandran L, Joseph L, et al.

Andrologia 2019; (51(9)):e13377 doi:10.1111/and.13377.

EARLY-ONSET GONADOBLASTOMA IN A 13-MONTH-OLD INFANT WITH 46,XY COMPLETE GONADAL DYSGENESIS IDENTIFIED WITH PRENATAL TESTING: A CASE OF CHROMOSOME 9p DELETION.

Fredette ME, Cusmano K, Phornphutkul C, et al.

AACE clinical case reports 2019; (5(6)):e380-e383 doi:10.4158/ACCR-2019-0285.

Swyer Syndrome with Heterotopic Adrenal Cortical Tissue in Streak Gonads: A Rare Case and Review of Literature.

Goyal M, Batra S, Singh P, et al.

Journal of human reproductive sciences 2019; (12(4)):345-347 doi:10.4103/jhrs.JHRS_44_19.

A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review.

Al Shamsi A, Al Hassani N, Hamchou M, et al.

Molecular genetics & genomic medicine 2020; (8(11)):e1514 doi:10.1002/mgg3.1514.

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.

Swyer Syndrome: A Case of Dysgerminoma Solely within the Fallopian Tube.

Anwar A, Akhtar M, Busby G

Journal of pediatric and adolescent gynecology 2021; (34(6)):869-871 doi:10.1016/j.jpag.2021.04.008.

Bone mineral density surveillance for childhood, adolescent, and young adult cancer survivors: evidence-based recommendations from the International Late Effects of Childhood Cancer Guideline Harmonization Group.

van Atteveld JE, Mulder RL, van den Heuvel-Eibrink MM, et al.

The lancet. Diabetes & endocrinology 2021; (9(9)):622-637 doi:10.1016/S2213-8587(21)00173-X.

Two successful pregnancies after in vitro fertilisation with oocyte donation in a patient with Swyer syndrome - a case report.

Urban A, Knap-Wielgus W, Grymowicz M, Smolarczyk R

Przeglad menopauzalny = Menopause review 2021; (20(3)):158-161 doi:10.5114/pm.2021.109361.

Bilateral Gonadoblastoma Overgrown by Dysgerminoma of the Right Gonad in a Patient with Swyer Syndrome.

Arafa M, Ryiami MA, Shukri MA, et al.

Maedica 2021; (16(4)):734-737 doi:10.26574/maedica.2020.16.4.734.

Osteoporosis and Bone Health in Transgender Individuals.

Verroken C, Collet S, Lapauw B, T'Sjoen G

Calcified tissue international 2022; (110(5)):615-623 doi:10.1007/s00223-022-00972-2.

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.

Complete gonadal dysgenesis analysis in the population of Latvia: malignant outcomes and a review of literature.

Jakovleva A, Kovalova Z

Medicine and pharmacy reports 2022; (95(1)):47-53 doi:10.15386/mpr-2064.

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.

Novel mutation of MAP3K1 gene in 46,XY DSD with complete gonadal dysgenesis.

Yu PH, Tsai MC, Chiang CT, et al.

Taiwanese journal of obstetrics & gynecology 2022; (61(5)):903-905 doi:10.1016/j.tjog.2022.01.004.

The Mysteries of Primary Amenorrhea: Swyer Syndrome.

Cherukuri S, Jajoo SS, Dewani D, Andela M

Cureus 2022; (14(8)):e28170 doi:10.7759/cureus.28170.

Molecular mechanisms underlying the defects of two novel mutations in the HSD17B3 gene found in the Tunisian population.

Ben Rhouma B, Kley M, Kallabi F, et al.

The Journal of steroid biochemistry and molecular biology 2023; (227()):106235 doi:10.1016/j.jsbmb.2022.106235.

Pubertal induction in Turner syndrome without gonadal function: A possibility of earlier, lower-dose estrogen therapy.

Hasegawa Y, Hasegawa T, Satoh M, et al.

Frontiers in endocrinology 2023; (14()):1051695 doi:10.3389/fendo.2023.1051695.

Cardiovascular health and the menopause, metabolic health.

Anagnostis P, Stevenson JC

Best practice & research. Clinical endocrinology & metabolism 2024; (38(1)):101781 doi:10.1016/j.beem.2023.101781.

Late presentation of Swyer syndrome: A case report.

Pathak S, Raj G, Pratap R, Singh S

Radiology case reports 2023; (18(9)):3295-3298 doi:10.1016/j.radcr.2023.06.061.

A case of 46,XY complete gonadal dysgenesis with a novel missense variant in SRY.

Narita C, Takubo N, Sammori M, et al.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2023; (32(4)):235-238 doi:10.1297/cpe.2023-0032.

Swyer Syndrome: A Case Report.

Choi HG, Park S

Journal of the Korean Society of Radiology 2023; (84(5)):1181-1184 doi:10.3348/jksr.2023.0025.

Pure 46, XY gonadal dysgenesis and 46, XY complete androgen insensitivity syndrome: A case report.

Yu T, Liu L

Medicine 2024; (103(25)):e38297 doi:10.1097/MD.0000000000038297.

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.

46, XY Complete Gonadal Dysgenesis (Swyer Syndrome) Presenting as Primary Amenorrhea in a Normomorphic Adult Female From Kakamega, Kenya.

Omoaghe C

Clinical case reports 2025; (13(1)):e70140 doi:10.1002/ccr3.70140.

Swyer Syndrome: A diagnostic challenge.

Bannour I, Bannour B, Ferjani S, Boughizane S

JBRA assisted reproduction 2025; (29(1)):195-198 doi:10.5935/1518-0557.20240096.

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.

A novel variant in the MAP3K1 genomic locus reveals abnormal cell apoptosis as a potential pathogenic mechanism in 46, XY disorders of sex development.

Lu Y, Wei S, Wang S, et al.

Molecular medicine reports 2025; (32(2)).

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.

"Rare but Not Forgotten Five Cases of Swyer Syndrome": Case Series and Literature Review.

Kumari P, Kumari M, Barik M, Varghese L

Journal of obstetrics and gynaecology of India 2025; (75(6)):472-476 doi:10.1007/s13224-025-02183-9.

Advanced-Stage Gonadal Dysgerminoma in a Patient With a Previous Diagnosis of Familial Swyer Syndrome: A Very Rare Genetic Entity.

Oğlak SC, Söğütçü N, Akgöl S, et al.

Case reports in medicine 2026; (2026()):3312911 doi:10.1155/carm/3312911.

Clinical Presentation and Management of Swyer Syndrome: A Case Report.

Errahali Y, Malad M, Lakssir I, et al.

Cureus 2026; (18(1)):e100735 doi:10.7759/cureus.100735.

From Primary Amenorrhea to the Desert Hedgehog Gene: Novel Homozygous Variant in 46,XY Gonadal Dysgenesis.

Deligözoğlu D, Ceylaner S, Gürbüz F

Journal of pediatric and adolescent gynecology 2026; doi:10.1016/j.jpag.2026.02.006.