Research & Literature

Mayer-Rokitansky-Kuster-Hauser syndrome and stress urinary incontinence.

Aniuliene R, Aniulis P

European journal of obstetrics, gynecology, and reproductive biology 2015; (194()):233-5.

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.

Weinberg-Shukron A, Renbaum P, Kalifa R, et al.

The Journal of clinical investigation 2015; (125(11)):4295-304.

Bone Mineral Density in Adolescent Girls with Hypogonadotropic and Hypergonadotropic Hypogonadism.

Özbek MN, Demirbilek H, Baran RT, Baran A

Journal of clinical research in pediatric endocrinology 2016; (8(2)):163-9 doi:10.4274/jcrpe.2228.

Autoimmune polyglandular syndrome type 3 (APS-3) among patients with premature ovarian insufficiency (POI).

Szlendak-Sauer K, Jakubik D, Kunicki M, et al.

European journal of obstetrics, gynecology, and reproductive biology 2016; (203()):61-5.

Clinical features and management of 33 patients with 46,XX pure gonadal dysgenesis.

Huang H, Wang CQ, Tian QJ

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2016; (32(12)):995-998 doi:10.1080/09513590.2016.1190820.

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.

Hormone replacement therapy in young women with surgical primary ovarian insufficiency.

Sarrel PM, Sullivan SD, Nelson LM

Fertility and sterility 2016; (106(7)):1580-1587 doi:10.1016/j.fertnstert.2016.09.018.

Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea.

Razavi Z, Momtaz HE

Iranian journal of medical sciences 2017; (42(2)):210-214.

Painful ovulation in a 46,XX SRY -ve adult male with SOX9 duplication.

Shankara Narayana N, Kean AM, Ewans L, et al.

Endocrinology, diabetes & metabolism case reports 2017; (2017()) doi:10.1530/EDM-17-0045.

Premature ovarian failure.

Jankowska K

Przeglad menopauzalny = Menopause review 2017; (16(2)):51-56 doi:10.5114/pm.2017.68592.

Marfanoid habitus is a nonspecific feature of Perrault syndrome.

Zerkaoui M, Demain LAM, Cherkaoui Jaouad I, et al.

Clinical dysmorphology 2017; (26(4)):200-204 doi:10.1097/MCD.0000000000000198.

Sensorineural hearing loss in a patient with Swyer syndrome.

Chen PJ, Chen HC

Clinical dysmorphology 2018; (27(1)):4-5 doi:10.1097/MCD.0000000000000190.

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

Portnoi MF, Dumargne MC, Rojo S, et al.

Human molecular genetics 2018; (27(7)):1228-1240 doi:10.1093/hmg/ddy037.

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.

Molecular Aspects and Clinical Relevance of GDF9 and BMP15 in Ovarian Function.

Belli M, Shimasaki S

Vitamins and hormones 2018; (107()):317-348 doi:10.1016/bs.vh.2017.12.003.

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.

Oestrogen replacement improves bone mineral density in oligo-amenorrhoeic athletes: a randomised clinical trial.

Ackerman KE, Singhal V, Baskaran C, et al.

British journal of sports medicine 2019; (53(4)):229-236 doi:10.1136/bjsports-2018-099723.

Impact of Route of Estrogen Administration on Bone Turnover Markers in Oligoamenorrheic Athletes and Its Mediators.

Singhal V, Ackerman KE, Bose A, et al.

The Journal of clinical endocrinology and metabolism 2019; (104(5)):1449-1458 doi:10.1210/jc.2018-02143.

[Exome diagnostics in neurology].

Zech M, Wagner M, Schormair B, et al.

Der Nervenarzt 2019; (90(2)):131-137 doi:10.1007/s00115-018-0667-1.

'Size does matter': Prophylactic gonadectomy in a case of Swyer syndrome.

Mayur P, Parikshaa G, Anil B, et al.

Journal of gynecology obstetrics and human reproduction 2019; (48(4)):283-286 doi:10.1016/j.jogoh.2019.01.009.

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.

A critical assessment of case reports describing absent uterus in subjects with oestrogen deficiency.

Berglund A, Burt E, Cameron-Pimblett A, et al.

Clinical endocrinology 2019; (90(6)):822-826 doi:10.1111/cen.13963.

Genetics of human female infertility†.

Yatsenko SA, Rajkovic A

Biology of reproduction 2019; (101(3)):549-566 doi:10.1093/biolre/ioz084.

Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc.

Al-Jaroudi D, Enabi S, AlThagafi MS

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2019; (35(12)):1037-1039 doi:10.1080/09513590.2019.1637407.

Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46 XX Karyotype: A Case Report.

Jha SK, Manandhar R, Shrivastava VR

JNMA; journal of the Nepal Medical Association 2019; (57(216)):119-122.

Effects of Estrogen Replacement on Bone Geometry and Microarchitecture in Adolescent and Young Adult Oligoamenorrheic Athletes: A Randomized Trial.

Ackerman KE, Singhal V, Slattery M, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2020; (35(2)):248-260 doi:10.1002/jbmr.3887.

Misdiagnosis of Mullerian agenesis in a patient with 46, XX gonadal dysgenesis: a missed opportunity for prevention of osteoporosis.

Thewjitcharoen Y, Veerasomboonsin V, Nakasatien S, et al.

Endocrinology, diabetes & metabolism case reports 2019; (2019()).

Molecular Cytogenetic Characterization of a Karyotype of a Female Patient with Secondary Amenorrhea with a Cell Line Showing 46,X,+mar.

Okabe A, Reyes A, Murphy M, et al.

Journal of the Association of Genetic Technologists 2019; (45(4)):180-186.

Variants in Homologous Recombination Genes EXO1 and RAD51 Related with Premature Ovarian Insufficiency.

Luo W, Guo T, Li G, et al.

The Journal of clinical endocrinology and metabolism 2020; (105(10)) doi:10.1210/clinem/dgaa505.

Premature ovarian insufficiency: A hormonal treatment approach.

Benetti-Pinto CL, Soares Júnior JM, Maciel GA, et al.

Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia 2020; (42(8)):511-518 doi:10.1055/s-0040-1716929.

Misdiagnosis of associated mullerian agenesis in a female with 46, XX gonadal dysgenesis: a case report and review of literature.

Opdecam L, Barudy Vasquez J, Camerlinck M, Makar A

Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 2021; (41(7)):1164-1165 doi:10.1080/01443615.2020.1798908.

Impact of Hormonal Replacement Therapy on Bone Mineral Density in Premature Ovarian Insufficiency Patients.

Podfigurna A, Maciejewska-Jeske M, Nadolna M, et al.

Journal of clinical medicine 2020; (9(12)) doi:10.3390/jcm9123961.

A homozygous truncating variant in GDF9 in siblings with primary ovarian insufficiency.

Verma KP, Thompson B, Wolfe J, et al.

Journal of assisted reproduction and genetics 2021; (38(6)):1539-1543 doi:10.1007/s10815-021-02144-x.

Hypogonadism in male and female: which is the best treatment?

Bertelli E, DI Frenna M, Cappa M, et al.

Minerva pediatrics 2021; (73(6)):572-587 doi:10.23736/S2724-5276.21.06534-4.

The first case of novel variants of the FSHR mutation causing primary amenorrhea in 2 siblings in Korea.

Yoo S, Yoon JY, Keum C, Cheon CK

Annals of pediatric endocrinology & metabolism 2023; (28(1)):54-60 doi:10.6065/apem.2142116.058.

A rare case of 46,XX gonadal dysgenesis, Mayer-Rokitansky-Kuster-Hauser syndrome, pituitary and thyroid hypoplasia.

Ambachew R, Gulilat A, Aberra T, et al.

Endocrinology, diabetes & metabolism case reports 2022; (2022()).

The Care of Adolescents and Young Adults with Turner Syndrome: A Pediatric and Adolescent Gynecology Perspective.

Dowlut-McElroy T, Shankar RK

Journal of pediatric and adolescent gynecology 2022; (35(4)):429-434 doi:10.1016/j.jpag.2022.02.002.

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.

Bilateral Gonadoblastoma in a 6-Year-old Girl With Frasier Syndrome: Need for Early Preventive Gonadectomy.

Kollios K, Karipiadou A, Papagianni M, et al.

Journal of pediatric hematology/oncology 2022; (44(8)):471-473 doi:10.1097/MPH.0000000000002501.

Primary Amenorrhea and Differences of Sex Development.

Naroji S, Gomez-Lobo V, Finlayson C

Seminars in reproductive medicine 2022; (40(1-02)):16-22 doi:10.1055/s-0042-1753551.

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.

Are NR5A1 Variations a Frequent Cause of 46,XX Ovotesticular Disorders of Sex Development? Analysis from a Single Center and Systematic Review.

Barros BA, Guaragna MS, Fabbri-Scallet H, et al.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2022; (16(4)):242-251 doi:10.1159/000526036.

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.

Impact of ovarian insufficiency on bone health in childhood cancer survivors: Two cases.

He CY, Lee DJ, Foster KL, Gordon CM

Bone 2024; (178()):116930 doi:10.1016/j.bone.2023.116930.

Current Recommended Estrogen Dosing for Pubertal Induction in Turner Syndrome Results in Normal Uterine Growth.

Lindsay Mart F, Gutmark-Little I, Streich-Tilles T, et al.

The Journal of clinical endocrinology and metabolism 2024; (109(3)):e1040-e1047 doi:10.1210/clinem/dgad649.

Utility of exome sequencing for the diagnosis of pediatric-onset neuromuscular diseases beyond diagnostic yield: a narrative review.

Piñeros-Fernández MC, Morte B, García-Giménez JL

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2024; (45(4)):1455-1464 doi:10.1007/s10072-023-07210-z.

Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.

Sedlackova L, Sterbova K, Vlckova M, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024; (48()):17-29 doi:10.1016/j.ejpn.2023.10.006.

Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

Rosina E, Pezzani L, Apuril E, et al.

Molecular genetics & genomic medicine 2024; (12(1)):e2316 doi:10.1002/mgg3.2316.

Newly Described Mutations of the UNC45A Gene in Infants with Jaundice and Pruritus.

Degtyareva A, Dokshukina A, Filippova E, et al.

Current pediatric reviews 2025; (21(2)):192-199 doi:10.2174/0115733963264010231213103328.

Bone mineral density in patients with primary ovarian insufficiency: A systematic review and Meta-Analysis.

Jiang M, Gao Y, Hou H, et al.

European journal of obstetrics, gynecology, and reproductive biology 2024; (295()):219-227 doi:10.1016/j.ejogrb.2024.02.013.

Identification of genetic causes in children with unexplained epilepsy based on trio-whole exome sequencing.

Chengyan L, Chupeng X, You W, et al.

Clinical genetics 2024; (106(2)):140-149 doi:10.1111/cge.14519.

Primary Amenorrhea and Premature Ovarian Insufficiency.

Yatsenko SA, Witchel SF, Gordon CM

Endocrinology and metabolism clinics of North America 2024; (53(2)):293-305 doi:10.1016/j.ecl.2024.01.009.

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.

Unanticipated diagnosis of Swyer syndrome: a case report.

Giri KP, Thapa S, Rawat R, Rouniyar S

Annals of medicine and surgery (2012) 2024; (86(10)):6293-6299 doi:10.1097/MS9.0000000000002535.

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.

Perrault syndrome: a forgotten presentation for infertile women.

Alkhonezan M, Alkhonezan S, Al-Jaroudi D

Clinical case reports 2024; (12(11)):e9522 doi:10.1002/ccr3.9522.

Identification of novel variants and candidate genes in women with 46,XX complete gonadal dysgenesis.

Ding L, Deng S, Zhang P, et al.

Reproductive biology and endocrinology : RB&E 2024; (22(1)):140 doi:10.1186/s12958-024-01309-4.

Unveiling the Unknown: Nicaragua's First Recorded Case of Mayer-Rokitansky-Küster-Hauser Syndrome.

Garcia MES, Rivera A, Vargas Salgado CM, et al.

Cureus 2024; (16(11)):e72895 doi:10.7759/cureus.72895.

A Novel Homozygous BMP15 Mutation Causes Ovarian Dysgenesis and Primary Amenorrhea.

Cohen A, Rossetti R, Florsheim N, et al.

Journal of the Endocrine Society 2025; (9(2)):bvae221 doi:10.1210/jendso/bvae221.

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.

LARS2-Related Perrault Syndrome in Siblings With 46,XY Differences of Sex Development.

Adam AP, O'Sullivan L, Peterson A, et al.

American journal of medical genetics. Part A 2025; (197(8)):e64064 doi:10.1002/ajmg.a.64064.

GnRH agonist pretreatment in hormonal endometrial preparation: a comparison of two protocols for frozen embryo transfer outcomes.

Yi X, Tian D, Li H, Zhou G

Frontiers in medicine 2025; (12()):1649012 doi:10.3389/fmed.2025.1649012.

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.

Novel variants associated with premature ovarian insufficiency in Russian adolescents.

Tsabai P, Kumykova Z, Averkova V, et al.

Frontiers in endocrinology 2025; (16()):1687148 doi:10.3389/fendo.2025.1687148.

Association of GnRH Agonist Pretreatment with Reproductive Outcomes in Women ≥35 years with Diminished Ovarian Reserve Undergoing Frozen Embryo Transfer: A Large Retrospective Cohort Study.

Zhou Y, Liao Z, Guo Y

International journal of women's health 2025; (17()):5361-5373 doi:10.2147/IJWH.S569152.

Pregnancy chances and obstetrical outcomes after egg donation according to the maternal indication.

Cheina S, Appoline Z, Audrey G, et al.

Journal of gynecology obstetrics and human reproduction 2026; (55(3)):103102 doi:10.1016/j.jogoh.2025.103102.