{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T04:47:35Z","timestamp":1760244455273,"version":"build-2065373602"},"reference-count":65,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2022,12,3]],"date-time":"2022-12-03T00:00:00Z","timestamp":1670025600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Complete Androgen Insensitivity Syndrome (CAIS) is a rare genetic condition by mutations in the androgen receptor (AR) gene resulting in target issue resistance to androgens and a female phenotype in genetically male individuals. A 16-year-old phenotypically female individual presented to our clinic with primary amenorrhea. Her clinical evaluation showed normal female external genitalia, Tanner III breast development and sparse pubic and axillary hair (Tanner stage II). Hormonal assessment revealed increased concentrations of Luteinizing Hormone (LH), Testosterone and Antim\u00fcllerian Hormone (AMH). Image studies detected no uterus or gonads, but a blind vagina and the karyotype was 46, XY. These findings suggested the diagnosis of CAIS, and genetic testing of the AR gene revealed a rare pathogenic mutation of cytosine to adenine (c.2612C&gt;A) replacing alanine with glutamic acid at position 871 (p.Ala871Glu) in the AR, previously described once in two adult sisters. The patient underwent gonadectomy and received hormonal replacement therapy. This study expands the AR mutation database and shows the complexity and the importance of prompt diagnosis, proper management, and follow-up for CAIS patients, underlining the need for standardized protocols.<\/jats:p>","DOI":"10.3390\/children9121900","type":"journal-article","created":{"date-parts":[[2022,12,5]],"date-time":"2022-12-05T02:56:26Z","timestamp":1670208986000},"page":"1900","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of the Rare Ala871Glu Mutation in the Androgen Receptor Gene Leading to Complete Androgen Insensitivity Syndrome in an Adolescent Girl with Primary Amenorrhea"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2588-3124","authenticated-orcid":false,"given":"Aikaterini","family":"Kapama","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, 401 General Military Hospital of Athens, 11525 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6083-3560","authenticated-orcid":false,"given":"Dimitrios T.","family":"Papadimitriou","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology, Diabetes Mellitus and Metabolism, Second Department of Obstetrics and Gynecology, Aretaieion University Hospital, National and Kapodistrian University of Athens, 12462 Athens, Greece"},{"name":"Department of Pediatric-Adolescent Endocrinology and Diabetes, Athens Medical Center, 15125 Marousi, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1929-3275","authenticated-orcid":false,"given":"George","family":"Mastorakos","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology, Diabetes Mellitus and Metabolism, Second Department of Obstetrics and Gynecology, Aretaieion University Hospital, National and Kapodistrian University of Athens, 12462 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nikolaos F.","family":"Vlahos","sequence":"additional","affiliation":[{"name":"Second Department of Obstetrics and Gynecology, Aretaieion University Hospital, National and Kapodistrian University of Athens, 12462 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1434-7318","authenticated-orcid":false,"given":"Maria","family":"Papagianni","sequence":"additional","affiliation":[{"name":"Department of Nutrition and Dietetics, University of Thessaly, 42132 Trikala, Greece"},{"name":"Unit of Endocrinology, Diabetes and Metabolism, Third Department of Pediatrics, Aristotle University of Thessaloniki, Hippokrateion Hospital of Thessaloniki, 54642 Thessaloniki, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/j.beem.2006.11.003","article-title":"Androgen Resistance","volume":"20","author":"Hughes","year":"2006","journal-title":"Best Pract. Res. Clin. Endocrinol. Metab."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1016\/0092-8674(95)90199-X","article-title":"The Nuclear Receptor Superfamily: The Second Decade","volume":"83","author":"Mangelsdorf","year":"1995","journal-title":"Cell"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/0022-4731(89)90098-8","article-title":"The human androgen receptor: Domain structure, genomic organization and regulation of expression","volume":"34","author":"Brinkmann","year":"1989","journal-title":"J. Steroid Biochem."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1016\/j.eprac.2022.05.009","article-title":"Mild Androgen Insensitivity Syndrome: The Current Landscape","volume":"28","author":"Batista","year":"2022","journal-title":"Endocr. Pract."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1159\/000091592","article-title":"Puberty in Subjects with Complete Androgen Insensitivity Syndrome","volume":"65","author":"Papadimitriou","year":"2006","journal-title":"Horm. Res. Paediatr."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"111146","DOI":"10.1016\/j.mce.2020.111146","article-title":"Molecular Basis of Androgen Insensitivity Syndromes","volume":"523","author":"Hornig","year":"2021","journal-title":"Mol. Cell. Endocrinol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"12101","DOI":"10.1038\/s41598-020-68731-7","article-title":"Computational Analysis of Androgen Receptor (AR) Variants to Decipher the Relationship between Protein Stability and Related-Diseases","volume":"10","author":"Chen","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_8","first-page":"442","article-title":"Complete Androgen Insensitivity Syndrome","volume":"18","author":"Hashmi","year":"2008","journal-title":"J. Coll. Physicians Surg. Pak."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"4151","DOI":"10.1210\/jcem.86.9.7825","article-title":"Genotype Versus Phenotype in Families with Androgen Insensitivity Syndrome","volume":"86","author":"Boehmer","year":"2001","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1876","DOI":"10.1210\/jc.2009-2146","article-title":"Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46, XY Disorder of Sex Development","volume":"95","author":"Audi","year":"2010","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1080\/19396368.2018.1549619","article-title":"Molecular Diagnostics of Disorders of Sexual Development: An Indian Survey and Systems Biology Perspective","volume":"65","author":"Nagaraja","year":"2019","journal-title":"Syst. Biol. Reprod. Med."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1097\/GIM.0b013e3180653c47","article-title":"A Gender Assessment Team: Experience with 250 Patients over a Period of 25 Years","volume":"9","author":"Parisi","year":"2007","journal-title":"Genet. Med."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1547","DOI":"10.1210\/er.2019-00049","article-title":"Management of 46, XY Differences\/Disorders of Sex Development (DSD) Throughout Life","volume":"40","author":"Wisniewski","year":"2019","journal-title":"Endocr. Rev."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1002\/jcc.20084","article-title":"UCSF Chimera\u2014A Visualization System for Exploratory Research and Analysis","volume":"25","author":"Pettersen","year":"2004","journal-title":"J. Comput. Chem."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1172","DOI":"10.1210\/mend.12.8.0153","article-title":"Functional Interactions of the AF-2 Activation Domain Core Region of the Human Androgen Receptor with the Amino-Terminal Domain and with the Transcriptional Coactivator TIF2 (Transcriptional Intermediary Factor 2)","volume":"12","author":"Berrevoets","year":"1998","journal-title":"Mol. Endocrinol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"26164","DOI":"10.1074\/jbc.M004571200","article-title":"Structural Evidence for Ligand Specificity in the Binding Domain of the Human Androgen Receptor","volume":"275","author":"Matias","year":"2000","journal-title":"J. Biol. Chem."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"MON-541","DOI":"10.1210\/js.2019-MON-541","article-title":"MON-541 Successful Treatment of Normocalcemic Hyperparathyroidism in Children","volume":"3","author":"Papadimitriou","year":"2019","journal-title":"J. Endocr. Soc."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1186\/s13023-021-02099-3","article-title":"Age at Diagnosis in Patients with Chronic Congenital Endocrine Conditions: A Regional Cohort Study from a Reference Center for Rare Diseases","volume":"16","author":"Kallali","year":"2021","journal-title":"Orphanet. J. Rare Dis."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"3241","DOI":"10.1210\/jc.2002-021658","article-title":"Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene","volume":"88","author":"Melo","year":"2003","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1270","DOI":"10.1016\/j.fertnstert.2020.12.008","article-title":"Clinical Characteristics and Molecular Genetics of Complete Androgen Insensitivity Syndrome Patients: A Series Study of 30 Cases from a Chinese Tertiary Medical Center","volume":"115","author":"Zhang","year":"2021","journal-title":"Fertil. Steril."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1007\/s40618-020-01284-8","article-title":"Disorders of Sexual Development with XY Karyotype and Female Phenotype: Clinical Findings and Genetic Background in a Cohort from a Single Centre","volume":"44","author":"Costagliola","year":"2021","journal-title":"J. Endocrinol. Investig."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1186\/s12958-020-00593-0","article-title":"Clinical, Hormonal and Genetic Characteristics of Androgen Insensitivity Syndrome in 39 Chinese Patients","volume":"18","author":"Liu","year":"2020","journal-title":"Reprod. Biol. Endocrinol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1496","DOI":"10.1016\/j.juro.2008.06.045","article-title":"Long-Term Followup and Comparison Between Genotype and Phenotype in 29 Cases of Complete Androgen Insensitivity Syndrome","volume":"180","author":"Cheikhelard","year":"2008","journal-title":"J. Urol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1002\/path.1890","article-title":"Testicular Development in the Complete Androgen Insensitivity Syndrome","volume":"208","author":"Hannema","year":"2006","journal-title":"J. Pathol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1007\/s00431-003-1301-0","article-title":"Novel Point Mutations in Complete Androgen Insensitivity Syndrome with Incomplete M\u00fcllerian Regression: Two Taiwanese Patients","volume":"162","author":"Van","year":"2003","journal-title":"Eur. J. Pediatr."},{"key":"ref_27","first-page":"909","article-title":"Complete Androgen Insensitivity Syndrome and Discordant M\u00fcllerian Remnants: Two Cases with Novel Mutation in the Androgen Receptor","volume":"26","author":"Dursun","year":"2013","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"932.e15","DOI":"10.1016\/j.fertnstert.2008.09.027","article-title":"Case of Sisters with Complete Androgen Insensitivity Syndrome and Discordant M\u00fcllerian Remnants","volume":"91","author":"Nichols","year":"2009","journal-title":"Fertil. Steril."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1159\/000477921","article-title":"Update on the Pathophysiology and Risk Factors for the Development of Malignant Testicular Germ Cell Tumors in Complete Androgen Insensitivity Syndrome","volume":"11","author":"Cools","year":"2017","journal-title":"Sex. Dev."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"19","DOI":"10.6065\/apem.2040170.085","article-title":"Complete Androgen Insensitivity Syndrome and Risk of Gonadal Malignancy: Systematic Review","volume":"26","author":"Barros","year":"2021","journal-title":"Ann. Pediatr. Endocrinol. Metab."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1002\/ijgo.13974","article-title":"Gonadal Tumor and Malignancy in 118 Patients with Disorders of Sex Development with Y Chromosome","volume":"158","author":"Ouyang","year":"2021","journal-title":"Int. J. Gynecol. Obstet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1055\/s-0032-1324729","article-title":"Psychological Aspects of the Treatment of Patients with Disorders of Sex Development","volume":"30","author":"Sandberg","year":"2012","journal-title":"Semin. Reprod. Med."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1007\/s00198-006-0243-6","article-title":"Height and Bone Mineral Density in Androgen Insensitivity Syndrome with Mutations in the Androgen Receptor Gene","volume":"18","author":"Danilovic","year":"2007","journal-title":"Osteoporos. Int."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1111\/cen.13368","article-title":"Bone Mineral Density in Complete Androgen Insensitivity Syndrome and the Timing of Gonadectomy","volume":"87","author":"King","year":"2017","journal-title":"Clin. Endocrinol."},{"key":"ref_35","first-page":"309","article-title":"Altered Bone Mineral Density in Patients with Complete Androgen Insensitivity Syndrome","volume":"50","author":"Bertelloni","year":"1998","journal-title":"Horm. Res."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1530\/EJE-08-0166","article-title":"Comparison of Bone Mineral Density and Body Proportions between Women with Complete Androgen Insensitivity Syndrome and Women with Gonadal Dysgenesis","volume":"159","author":"Han","year":"2008","journal-title":"Eur. J. Endocrinol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1530\/EJE-19-0383","article-title":"Bone Mineral Density, Body Composition and Metabolic Profiles in Adult Women with Complete Androgen Insensitivity Syndrome and Removed Gonads Using Oral or Transdermal Estrogens","volume":"181","author":"Gava","year":"2019","journal-title":"Eur. J. Endocrinol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1007\/BF00298426","article-title":"Bone Mass in Androgen-Insensitivity Syndrome: Response to Hormonal Replacement Therapy","volume":"57","author":"Quesada","year":"1995","journal-title":"Calcif. Tissue Int."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"727131","DOI":"10.3389\/fendo.2021.727131","article-title":"Case Report: Low Bone and Normal Lean Mass in Adolescents with Complete Androgen Insensitivity Syndrome","volume":"12","author":"Misakian","year":"2021","journal-title":"Front. Endocrinol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1275","DOI":"10.1210\/js.2019-00083","article-title":"Replacement of Male Mini-Puberty","volume":"3","author":"Papadimitriou","year":"2019","journal-title":"J. Endocr. Soc."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1136\/adc.80.4.324","article-title":"Assessment of the Gonadotrophin-Gonadal Axis in Androgen Insensitivity Syndrome","volume":"80","author":"Ahmed","year":"1999","journal-title":"Arch. Dis. Child."},{"key":"ref_42","first-page":"331","article-title":"Plasma concentration of testosterone, dihydrotestosterone, testosterone-oestradiol binding globulin, and pituitary gonadotrophins in the syndrome of male pseudo-hermaphroditism with testicular feminization","volume":"70","author":"Tremblay","year":"1972","journal-title":"Acta Endocrinol."},{"key":"ref_43","first-page":"960","article-title":"Anti-M\u00fcllerian Hormone in Children with Androgen Insensitivity","volume":"79","author":"Rey","year":"1994","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_44","first-page":"627","article-title":"Evaluation of Gonadal Function in 107 Intersex Patients by Means of Serum Antim\u00fcllerian Hormone Measurement","volume":"84","author":"Rey","year":"1999","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1148\/radiol.2331020777","article-title":"M\u00fcllerian Duct Anomalies: Imaging and Clinical Issues","volume":"233","author":"Troiano","year":"2004","journal-title":"Radiology"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1177\/028418518502600415","article-title":"Ultrasonography of the Undescended Testis","volume":"26","author":"Forsberg","year":"1985","journal-title":"Acta Radiol. Diagn."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1111\/j.1442-2042.2005.01102.x","article-title":"Accuracy of Ultrasonography and Magnetic Resonance Imaging in the Diagnosis of Non-Palpable Testis","volume":"12","author":"Kanemoto","year":"2005","journal-title":"Int. J. Urol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1111\/cen.14528","article-title":"Society for Endocrinology UK Guidance on the Initial Evaluation of a Suspected Difference or Disorder of Sex Development (Revised 2021)","volume":"95","author":"Ahmed","year":"2021","journal-title":"Clin. Endocrinol."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"R225","DOI":"10.1530\/EJE-20-1487","article-title":"MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and Management of Primary Amenorrhea and Female Delayed Puberty","volume":"184","author":"Holopainen","year":"2021","journal-title":"Eur. J. Endocrinol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1111\/j.2047-2927.2014.00215.x","article-title":"AR and SRD5A2 Gene Mutations in a Series of 51 Turkish 46, XY DSD Children with a Clinical Diagnosis of Androgen Insensitivity","volume":"2","author":"Akcay","year":"2014","journal-title":"Andrology"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/BF01956409","article-title":"Molecular Characterization of the Androgen Receptor Gene in Boys with Hypospadias","volume":"153","author":"Hiort","year":"1994","journal-title":"Eur. J. Pediatr."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1016\/S0022-3476(98)70387-7","article-title":"Inherited and de Novo Androgen Receptor Gene Mutations: Investigation of Single-Case Families","volume":"132","author":"Hiort","year":"1998","journal-title":"J. Pediatr."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1016\/S0022-3476(97)80063-7","article-title":"Etiologic Classification of Severe Hypospadias: Implications for Prognosis and Management","volume":"131","author":"Albers","year":"1997","journal-title":"J. Pediatr."},{"key":"ref_54","first-page":"90","article-title":"Phenotypic Heterogeneity Associated with Identical Mutations in Residue 870 of the Androgen Receptor","volume":"57","author":"Zenteno","year":"2002","journal-title":"Horm. Res."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1038\/aja.2010.6","article-title":"Isolated Micropenis Reveals Partial Androgen Insensitivity Syndrome Confirmed by Molecular Analysis","volume":"12","author":"Bhangoo","year":"2010","journal-title":"Asian J. Androl."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"e12763","DOI":"10.1111\/and.12763","article-title":"Clinical and Molecular Characteristics in 15 Patients with Androgen Receptor Gene Mutations from South China","volume":"49","author":"Su","year":"2017","journal-title":"Andrologia"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/S0165-4608(96)00423-2","article-title":"A (870) E Mutation of the Androgen Receptor Gene in a Patient with Complete Androgen Insensitivity Syndrome and Sertoli Cell Tumor","volume":"98","author":"Knoke","year":"1997","journal-title":"Cancer Genet. Cytogenet."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1159\/000442975","article-title":"Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care","volume":"85","author":"Lee","year":"2016","journal-title":"Horm. Res. Paediatr."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"193","DOI":"10.2147\/DDDT.S4146","article-title":"Transdermal Hormone Therapy in Postmenopausal Women: A Review of Metabolic Effects and Drug Delivery Technologies","volume":"2","author":"Kopper","year":"2008","journal-title":"Drug Des. Devel. Ther."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1515\/hmbci-2013-0047","article-title":"Comparison of Steady State Development and Reduction of Menopausal Symptoms after Oral or Transdermal Delivery of 17-\u03b2-Estradiol in Young Healthy Symptomatic Menopausal Women","volume":"18","author":"Rohr","year":"2014","journal-title":"Horm. Mol. Biol. Clin. Investig."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1016\/S2213-8587(18)30197-9","article-title":"Oestrogen versus Androgen in Hormone-Replacement Therapy for Complete Androgen Insensitivity Syndrome: A Multicentre, Randomised, Double-Dummy, Double-Blind Crossover Trial","volume":"6","author":"Birnbaum","year":"2018","journal-title":"Lancet Diabetes Endocrinol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.jpsychores.2017.08.009","article-title":"Increased Psychiatric Morbidity in Women with Complete Androgen Insensitivity Syndrome or Complete Gonadal Dysgenesis","volume":"101","author":"Engberg","year":"2017","journal-title":"J. Psychosom. Res."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1007\/s10508-017-1139-6","article-title":"Mental Health and Disorders of Sex Development\/Intersex Conditions in Iranian Culture: Congenital Adrenal Hyperplasia, 5-\u03b1 Reductase Deficiency-Type 2, and Complete Androgen Insensitivity Syndrome","volume":"47","author":"Khorashad","year":"2018","journal-title":"Arch. Sex. Behav."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"1440","DOI":"10.1111\/jsm.12884","article-title":"Quality of Life and Psychological Adjustment of Women Living with 46, XY Differences of Sex Development","volume":"12","author":"Assante","year":"2015","journal-title":"J. Sex. Med."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1159\/000228719","article-title":"Body Composition and Metabolic Profile in Women with Complete Androgen Insensitivity Syndrome","volume":"3","author":"Dati","year":"2009","journal-title":"Sex. 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