Research & Literature

[Complete androgen insensitivity syndrome].

Gajić TM, Vujović S, Ivović M, et al.

Srpski arhiv za celokupno lekarstvo 2015; (143(3-4)):214-8.

Androgen insensitivity syndrome.

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

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

Timing of Gonadectomy in Patients with Complete Androgen Insensitivity Syndrome-Current Recommendations and Future Directions.

Patel V, Casey RK, Gomez-Lobo V

Journal of pediatric and adolescent gynecology 2016; (29(4)):320-5.

Coping With Diverse Sex Development: Treatment Experiences and Psychosocial Support During Childhood and Adolescence and Adult Well-Being.

Schweizer K, Brunner F, Gedrose B, et al.

Journal of pediatric psychology 2017; (42(5)):504-519 doi:10.1093/jpepsy/jsw058.

Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity.

Hornig NC, Ukat M, Schweikert HU, et al.

The Journal of clinical endocrinology and metabolism 2016; (101(11)):4468-4477 doi:10.1210/jc.2016-1990.

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.

Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree.

Kar B, Sivamani S, Kundavi S, Varma TR

Journal of obstetrics and gynaecology of India 2016; (66(Suppl 1)):358-62 doi:10.1007/s13224-015-0736-3.

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.

Bone Mineral Density in Women Living with Complete Androgen Insensitivity Syndrome and Intact Testes or Removed Gonads.

Bertelloni S, Meriggiola MC, Dati E, et al.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2017; (11(4)):182-189 doi:10.1159/000477599.

Phenotypic and molecular characteristics of androgen insensitivity syndrome patients.

Yuan SM, Zhang YN, Du J, et al.

Asian journal of andrology 2018; (20(5)):473-478 doi:10.4103/aja.aja_17_18.

Oestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomised, double-dummy, double-blind crossover trial.

Birnbaum W, Marshall L, Werner R, et al.

The lancet. Diabetes & endocrinology 2018; (6(10)):771-780 doi:10.1016/S2213-8587(18)30197-9.

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.

Predicting puberty in partial androgen insensitivity syndrome: Use of clinical and functional androgen receptor indices.

Lek N, Tadokoro-Cuccaro R, Whitchurch JB, et al.

EBioMedicine 2018; (36()):401-409 doi:10.1016/j.ebiom.2018.09.047.

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.

Long-term healthcare of people with disorders of sex development: Predictors of pubertal outcomes of partial androgen insensitivity syndrome.

Fukami M

EBioMedicine 2018; (37()):29-30 doi:10.1016/j.ebiom.2018.10.026.

Living with permanent infertility: A German study on attitudes toward motherhood in individuals with Complete Androgen Insensitivity Syndrome (CAIS) and Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS).

Fliegner M, Richter-Appelt H, Krupp K, et al.

Health care for women international 2018; (39(11)):1295-1315 doi:10.1080/07399332.2018.1490739.

New mutation causing androgen insensitivity syndrome - a case report and review of literature.

Maciejewska-Jeske M, Rojewska-Madziala P, Broda K, et al.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2019; (35(4)):294-297 doi:10.1080/09513590.2018.1529160.

Variations of sex development: The first German interdisciplinary consensus paper.

Krege S, Eckoldt F, Richter-Unruh A, et al.

Journal of pediatric urology 2019; (15(2)):114-123 doi:10.1016/j.jpurol.2018.10.008.

Complete Androgen Insensitivity Syndrome: Successful Laparoscopic Management.

Gaur N, Singh P, Shekhar S, et al.

Journal of obstetrics and gynaecology of India 2019; (69(Suppl 1)):53-55 doi:10.1007/s13224-017-1084-2.

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.

Diagnostic accuracy of human chorionic gonadotropins (HCG) stimulation test in XY-disorders of sex development (XY-DSD) presented in Armed Forces Institute of Pathology.

Sheikh WH, Asif N, Haroon ZH, et al.

JPMA. The Journal of the Pakistan Medical Association 2019; (69(8)):1090-1093.

Mental health outcomes among individuals with 46,XY disorders of sex development: A systematic review.

Godfrey LM

Journal of health psychology 2021; (26(1)):40-59 doi:10.1177/1359105320909863.

Novel compound variants of the AR and MAP3K1 genes are related to the clinical heterogeneity of androgen insensitivity syndrome.

Cheng Y, Sun Y, Ji Y, et al.

Bioscience reports 2020; (40(5)) doi:10.1042/BSR20200616.

Complete androgen insensitivity syndrome and risk of gonadal malignancy: systematic review.

Barros BA, Oliveira LR, Surur CRC, et al.

Annals of pediatric endocrinology & metabolism 2021; (26(1)):19-23 doi:10.6065/apem.2040170.085.

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.

Testosterone-induced increase in libido in a patient with a loss-of-function mutation in the AR gene.

Marino L, Messina A, S Acierno J, et al.

Endocrinology, diabetes & metabolism case reports 2021; (2021()).

Physical and Reported Subjective Health Status in 222 Individuals with XY Disorder of Sex Development.

Gong XL, Raile K, Slowikowska-Hilczer J, et al.

Journal of the Endocrine Society 2021; (5(8)):bvab103 doi:10.1210/jendso/bvab103.

The radiologist's role in assessing differences of sex development.

Hryhorczuk AL, Phelps AS, Yu RN, Chow JS

Pediatric radiology 2022; (52(4)):752-764 doi:10.1007/s00247-021-05147-z.

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.

Case Report: Low Bone and Normal Lean Mass in Adolescents With Complete Androgen Insensitivity Syndrome.

Misakian A, McLoughlin M, Pyle LC, et al.

Frontiers in endocrinology 2021; (12()):727131 doi:10.3389/fendo.2021.727131.

Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight.

Kapczuk K, Kędzia W

International journal of molecular sciences 2021; (22(21)) doi:10.3390/ijms222111495.

Peer support interventions for parents and carers of children with complex needs.

Sartore GM, Pourliakas A, Lagioia V

The Cochrane database of systematic reviews 2021; (12()):CD010618 doi:10.1002/14651858.CD010618.pub2.

Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD

Akcan N, Uyguner O, Baş F, et al.

Journal of clinical research in pediatric endocrinology 2022; (14(2)):153-171 doi:10.4274/jcrpe.galenos.2022.2021-9-19.

Complete androgen insensitivity syndrome caused by a novel mutation in the androgen receptor gene and its mechanism.

Zhou D, Xu H, Shen X, et al.

Clinica chimica acta; international journal of clinical chemistry 2022; (531()):94-99 doi:10.1016/j.cca.2022.03.021.

Abdominal Mass in a Phenotypic Female with 46,XY Differences in Sex Development.

Alam R, Gabrielson AT, Rabinowitz MJ, et al.

Urology 2023; (173()):e13-e16 doi:10.1016/j.urology.2022.11.039.

Complete androgen insensitivity syndrome: a case report and literature review.

Guo M, Huang JC, Li CF, Liu YY

The Journal of international medical research 2023; (51(2)):3000605231154413 doi:10.1177/03000605231154413.

An Early Case of Complete Androgen Insensitivity Syndrome.

Matalka L, Dean SJ, Beauchamp G, Sunil B

Journal of investigative medicine high impact case reports 2023; (11()):23247096231157918 doi:10.1177/23247096231157918.

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.

Sex assignment and psychosexual peculiarities of individuals with different forms of androgen insensitivity syndrome: A qualitative study.

Kristesashvili J, Kobaladze L, Chipashvili M, Jibladze A

International journal of reproductive biomedicine 2023; (21(12)):985-994 doi:10.18502/ijrm.v21i12.15036.

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.

Structural mechanism underlying variations in DNA binding by the androgen receptor.

Lee XY, Van Eynde W, Helsen C, et al.

The Journal of steroid biochemistry and molecular biology 2024; (241()):106499 doi:10.1016/j.jsbmb.2024.106499.

Preimplantation Genetic Diagnosis of Androgen Resistance Syndrome Caused by Mutation on the AR Gene in Vietnam.

Tung NT, Sang TT, Khoa TV, et al.

The application of clinical genetics 2024; (17()):47-56 doi:10.2147/TACG.S457634.

LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome.

Pozojevic J, Sivaprasad R, Laß J, et al.

Scientific reports 2024; (14(1)):16302 doi:10.1038/s41598-024-65439-w.

Evaluation of the Perceived Benefits of a Peer Support Group for People with Mental Health Problems.

Beard D, Cottam C, Painter J

Nursing reports (Pavia, Italy) 2024; (14(3)):1661-1675 doi:10.3390/nursrep14030124.

Operational Mechanisms of Peer Support Groups and Support for Caregivers of People Living with Serious Mental Illness.

Obegu P, Nicholls K, Alberti M

Community mental health journal 2025; (61(1)):59-65 doi:10.1007/s10597-024-01326-y.

A Very Early Diagnosis of Complete Androgen Insensitivity Syndrome Due to a Novel Variant in the AR Gene: A Neonatal Case Study.

Ferrante R, Tumini S, Saltarelli MA, et al.

Biomedicines 2024; (12(8)) doi:10.3390/biomedicines12081742.

Diverse phenotypes and fertility outcomes of patients with androgen insensitivity syndrome in a Chinese family harboring identical AR gene variant.

Geng H, Tang D, Li K, et al.

BMC medical genomics 2024; (17(1)):249 doi:10.1186/s12920-024-01990-9.

Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological Risk.

Fraccascia B, Sodero G, Pane LC, et al.

Diseases (Basel, Switzerland) 2024; (12(10)) doi:10.3390/diseases12100235.

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.

Sexual health in adult women with complete androgen insensitivity syndrome: a single centre cross-sectional study.

Mangone A, Profka E, Rodari G, et al.

Journal of endocrinological investigation 2025; (48(8)):1849-1855 doi:10.1007/s40618-025-02592-7.

Familial complete androgen insensitivity syndrome (CAIS): a case series of three siblings with emphasis on diagnosis, management, and psychosocial outcomes.

Rajaraman V, Vishwanath U, D Cruze L

Endocrine 2025; (89(2)):627-631 doi:10.1007/s12020-025-04264-1.

Serial evaluation of gonads of complete androgen insensitivity syndrome from birth to puberty: Is gonadectomy necessary?

Ueda Y, Matsumoto F, Matsui F, Matsuyama S

Urology case reports 2025; (61()):103068 doi:10.1016/j.eucr.2025.103068.

A novel androgen resistance gene mutation (p.G590W) in complete androgen insensitivity syndrome: Emphasizing the need for early gonadectomy and integrated patient care.

Sun HY, Wang X, Wang LX, Zhang H

The Journal of international medical research 2025; (53(6)):3000605251350626 doi:10.1177/03000605251350626.

Differences in sex development: Taking inventory of function and anatomy to empower self care.

Heller K, Brierley S, Foreman N, et al.

Seminars in pediatric surgery 2025; (37()):151537 doi:10.1016/j.sempedsurg.2025.151537.

Screening for gonadal malignancy in androgen insensitivity syndrome: A systematic review.

Mazhari N, Freedman A, Marshall C, Kokorowski P

Journal of pediatric urology 2026; (22(1)):105624 doi:10.1016/j.jpurol.2025.09.030.

"The silent strain: Exploring self-image and mental health in braced adolescents with scoliosis": a scoping review.

Al Hajaj SW, Al Hajaj D, Singh P, et al.

Journal of clinical orthopaedics and trauma 2025; (70()):103217 doi:10.1016/j.jcot.2025.103217.

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.

Partial Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia-A Case Report of the Coexistence of Two Rare Diseases in One Patient.

Krzyścin M, Brodowska A, Furtak G, et al.

Reports (MDPI) 2025; (8(4)) doi:10.3390/reports8040212.

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.

Case Report: Laparoscopic vaginoplasty in a case of partial androgen insensitivity syndrome and a literature review of 16 cases in China.

Qin H, Liu H, Liu Q, Li B

Frontiers in surgery 2025; (12()):1702539 doi:10.3389/fsurg.2025.1702539.

Genetic variants, clinical characteristics, and surgical treatments of 46 children with androgen insensitivity syndrome.

Wen X, Fan LJ, Liu P, et al.

Asian journal of andrology 2026; (28(2)):173-178 doi:10.4103/aja202546.

Peer support in mental health services to reduce loneliness and emotional symptoms in Latin American.

Agudelo-Hernández F, Giraldo-Álvarez AB, Guapacha-Montoya M

American journal of community psychology 2026; doi:10.1002/ajcp.70045.

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.

Evolution of Gonadal Management in Complete Androgen Insensitivity Syndrome: A 25-Year Retrospective Cohort Study from a Dedicated Differences of Sex Development Service.

Learner HI, Kalampalikis A, Da Silva P, Clarke SA

Journal of pediatric and adolescent gynecology 2026; doi:10.1016/j.jpag.2026.02.007.

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.