akusherstvoObstetrics, Gynecology and ReproductionАкушерство, Гинекология и Репродукция2313-73472500-3194IRBIS LLC10.17749/2313-7347/ob.gyn.rep.2025.539akusherstvo-2349Research ArticleCLINICAL CASESКЛИНИЧЕСКИЕ СЛУЧАИAn exposition on complete androgen insensitivity syndrome and a case reportСиндром полной нечувствительности к андрогенам: клинический случайhttps://orcid.org/0009-0001-2378-2477МоркосС.MorkosS.

Моркос Саймон, д.м.н., проф.

Al Barsha, Khadaek Mohammed Bin Rashid, Дубай

Simon Morkos, MD, Dr Sci Med, Prof.

Al Barsha, Khadaek Mohammed Bin Rashid, Dubai, United Arab Emirates

Аль-КасемМ.Al QasemM.

Малек Аль-Касем, к.м.н. 

Al Karak 61710

Malek Al Qasem, MD, PhD

Al Karak 61710

Malikmutah85@gmail.comАлдамМ.AldamM.

Алдам Мустафа, магистр

Дубай

Mustafa Aldam, MSc

Dubai

БхотлаХ. К.BhotlaH. K.

Бхотла Хариприя Кучи

Бангалор, Карнатака 560029

Haripriya Kuchi Bhotla, MD

Bengaluru, Karnataka 560029

МейяжаганА.MeyyazhaganA.

Мейяжаган Арун, к.м.н.

Бангалор, Карнатака 560029

Arun Meyyazhagan, MD, PhD

Bengaluru, Karnataka 560029

ПаппусвамиМ.PappuswamyM.

Паппусвами Маникантан, к.м.н.

Бангалор, Карнатака 560029

Manikantan Pappuswamy, MD, PhD

Bengaluru, Karnataka 560029

ИскандараниФ.IskandaraniF.

Искандарани Фади

Al Barsha, Khadaek Mohammed Bin Rashid, Дубай

Fadi Iskandarani, MD

Al Barsha, Khadaek Mohammed Bin Rashid, Dubai

КутейчХ.KouteichK.

Кутейч Халед

Al Barsha, Khadaek Mohammed Bin Rashid, Дубай

Khaled Kouteich

Al Barsha, Khadaek Mohammed Bin Rashid, Dubai

АсолиманА.AsolimanA.

Асолиман Ахмед, магистр.

Al Barsha, Khadaek Mohammed Bin Rashid, Дубай

Ahmed Asoliman, MSc

Al Barsha, Khadaek Mohammed Bin Rashid, Dubai

Больница Al ZahraОбъединенные Арабские ЭмиратыAl Zahra HospitalUnited Arab EmiratesУниверситет MutahИндонезияMutah UniversityIndonesiaМедицинский центр HealiaОбъединенные Арабские ЭмиратыHealia Medical CenterUnited Arab EmiratesУниверситет CHRISTИндияCHRIST (Deemed to be University)India202506032025191127135Copyright © Morkos S., Al Qasem M., Aldam M., Bhotla H.K., Meyyazhagan A., Pappuswamy M., Iskandarani F., Kouteich K., Asoliman A., 20252025Моркос С., Аль-Касем М., Алдам М., Бхотла Х.К., Мейяжаган А., Паппусвами М., Искандарани Ф., Кутейч Х., Асолиман А.Morkos S., Al Qasem M., Aldam M., Bhotla H.K., Meyyazhagan A., Pappuswamy M., Iskandarani F., Kouteich K., Asoliman A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.gynecology.su/jour/article/view/2349

Complete androgen insensitivity syndrome (CAIS) is a rare X-linked sexual development condition typified by 46,XY karyotype, presence of external female genitalia along with intra-abdominal testes in labia majora or inguinal ring region. This syndrome results from alterations in the androgen receptor (AR) gene leading to primary amenorrhea and uterine agenesis (Müllerian agenesis) in adolescent teens or two-sided labial/inguinal hernia with testes in children around prepubertal age. Our paper reports a case of CAIS in a 16-year-old woman with no menarche and 46,XY karyotyping. Gonadectomy results showed hyperplasia of Leydig cells. The current research encompasses the case report and the available knowledge to date on the understanding, diagnosis, treatment, and management of CAIS.

Синдром полной нечувствительности к андрогенам (СПНкА) – редкое состояние полового развития, сцепленное с Х-хромосомой, для которого характерен кариотип 46,XY, наличие наружных женских половых органов вместе с внутрибрюшными яичками в области больших половых губ или пахового кольца. СПНкА возникает в результате изменений в гене рецептора андрогенов (РА), что приводит к первичной аменорее и агенезии матки (мюллеровой агенезии) у подростков или двусторонней лабиальной/паховой грыже с яичками у детей в препубертатном возрасте. В приводимом материале описан случай СПНкА у 16-летней женщины без менархе и с кариотипом 46,XY. Результаты гонадэктомии показали гиперплазию клеток Лейдига. Данная работа описывает клинический случай и содержит имеющиеся на сегодняшний день сведения о понимании, диагностике, лечении и ведении СПНкА.

синдром полной нечувствительности к андрогенамСПНкА46XYгонадырецептор андрогеновРАзаместительная гормональная терапияклинический случайcomplete androgen insensitivity syndromeCAIS46XYgonadsandrogen receptorARhormone replacement therapycase reportReferencesHughes I.A., Houk C., Ahmed S.F., Lee P.A.; LWPES Consensus Group; ESPE Consensus Group. Consensus statement on management of intersex disorders. Arch Dis Child. 2006;91(7):554–63. https://doi.org/10.1136/adc.2006.098319.Hughes I.A., Houk C., Ahmed S.F., Lee P.A.; LWPES Consensus Group; ESPE Consensus Group. Consensus statement on management of intersex disorders. Arch Dis Child. 2006;91(7):554–63. https://doi.org/10.1136/adc.2006.098319.Delli Paoli E., Di Chiano S., Paoli D. et al. Androgen insensitivity syndrome: a review. J Endocrinol Invest. 2023;46(11):2237–45. https://doi.org/10.1007/s40618-023-02127-y.Delli Paoli E., Di Chiano S., Paoli D. et al. Androgen insensitivity syndrome: a review. J Endocrinol Invest. 2023;46(11):2237–45. https://doi.org/10.1007/s40618-023-02127-y.Hughes I.A., Davies J.D., Bunch T.I. et al. Androgen insensitivity syndrome. Lancet. 2012;380(9851):1419–28. https://doi.org/10.1016/S0140-6736(12)60071-3.Hughes I.A., Davies J.D., Bunch T.I. et al. Androgen insensitivity syndrome. Lancet. 2012;380(9851):1419–28. https://doi.org/10.1016/S0140-6736(12)60071-3.Costagliola G., di Cosci M.C.O., Masini B. et al. Disorders of sexual development with XY karyotype and female phenotype: clinical findings and genetic background in a cohort from a single centre. J Endocrinol Invest. 2021;44(1):145–51. https://doi.org/10.1007/s40618-020-01284-8.Costagliola G., di Cosci M.C.O., Masini B. et al. Disorders of sexual development with XY karyotype and female phenotype: clinical findings and genetic background in a cohort from a single centre. J Endocrinol Invest. 2021;44(1):145–51. https://doi.org/10.1007/s40618-020-01284-8.Peng Y., Zhu H., Han B. et al. Identification of potential genes in pathogenesis and diagnostic value analysis of partial androgen Insensitivity syndrome using bBioinformatics analysis. Front Endocrinol. 2021;12:731107. https://doi.org/10.3389/fendo.2021.731107.Peng Y., Zhu H., Han B. et al. Identification of potential genes in pathogenesis and diagnostic value analysis of partial androgen Insensitivity syndrome using bBioinformatics analysis. Front Endocrinol. 2021;12:731107. https://doi.org/10.3389/fendo.2021.731107.Morris J.M. The syndrome of testicular feminization in male pseudohermaphrodites. Am J Obstet Gynecol. 1953;65(6):1192–211. https://doi.org/10.1016/0002-9378(53)90359-7.Morris J.M. The syndrome of testicular feminization in male pseudohermaphrodites. Am J Obstet Gynecol. 1953;65(6):1192–211. https://doi.org/10.1016/0002-9378(53)90359-7.Brown C.J., Goss S.J., Lubahn D.B. et al. Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism. Am J Hum Genet. 1989;44(2):264–9.Brown C.J., Goss S.J., Lubahn D.B. et al. Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism. Am J Hum Genet. 1989;44(2):264–9.Brown T.R., Lubahn D.B., Wilson E.M. et al. Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome. Proc Natl Acad Sci U S A. 1988;85(21):8151–5. https://doi.org/10.1073/pnas.85.21.8151.Brown T.R., Lubahn D.B., Wilson E.M. et al. Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome. Proc Natl Acad Sci U S A. 1988;85(21):8151–5. https://doi.org/10.1073/pnas.85.21.8151.Quigley C.A., De Bellis A., Marschke K.B. et al. Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev. 1995;16(3):271–321. https://doi.org/10.1210/edrv-16-3-271.Quigley C.A., De Bellis A., Marschke K.B. et al. Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev. 1995;16(3):271–321. https://doi.org/10.1210/edrv-16-3-271.Melo K.F.S., Mendonca B.B., Billerbeck A.E. et al. Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene. J Clin Endocrinol Metab. 2003;88(7):3241–50. https://doi.org/10.1210/jc.2002-021658.Melo K.F.S., Mendonca B.B., Billerbeck A.E. et al. Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene. J Clin Endocrinol Metab. 2003;88(7):3241–50. https://doi.org/10.1210/jc.2002-021658.Pinsky L., Kaufman M., Killinger D.W. et al. Human minimal androgen insensitivity with normal dihydrotestosterone-binding capacity in cultured genital skin fibroblasts: evidence for an androgen-selective qualitative abnormality of the receptor. Am J Hum Genet. 1984;36(5):965–78.Pinsky L., Kaufman M., Killinger D.W. et al. Human minimal androgen insensitivity with normal dihydrotestosterone-binding capacity in cultured genital skin fibroblasts: evidence for an androgen-selective qualitative abnormality of the receptor. Am J Hum Genet. 1984;36(5):965–78.Pizzo A., Laganà A.S., Borrielli I., Dugo N. Complete androgen insensitivity syndrome: a rare case of disorder of sex development. Case Rep Obstet Gynecol. 2013;2013:232696. https://doi.org/10.1155/2013/232696.Pizzo A., Laganà A.S., Borrielli I., Dugo N. Complete androgen insensitivity syndrome: a rare case of disorder of sex development. Case Rep Obstet Gynecol. 2013;2013:232696. https://doi.org/10.1155/2013/232696.Oakes M.B., Eyvazzadeh A.D., Quint E., Smith Y.R.. Complete androgen insensitivity syndrome – a review. J Pediatr Adolesc Gynecol. 2008;21(6):305–10. https://doi.org/10.1016/j.jpag.2007.09.006.Oakes M.B., Eyvazzadeh A.D., Quint E., Smith Y.R.. Complete androgen insensitivity syndrome – a review. J Pediatr Adolesc Gynecol. 2008;21(6):305–10. https://doi.org/10.1016/j.jpag.2007.09.006.Stephens J.D. Prenatal diagnosis of testicular feminisation. Lancet. 1984;2(8410):1038. https://doi.org/10.1016/s0140-6736(84)91134-6.Stephens J.D. Prenatal diagnosis of testicular feminisation. Lancet. 1984;2(8410):1038. https://doi.org/10.1016/s0140-6736(84)91134-6.Grumbach M.M., Conte F.A., Hughes I.A. Disorders of sex differentiation. In: Williams textbook of endocrinology. Eds. P.R. Larsen, H.M. Kronenberg, S. Melmed et al. 10th ed. Philadelphia: W.B. Saunders, 2002.Grumbach M.M., Conte F.A., Hughes I.A. Disorders of sex differentiation. In: Williams textbook of endocrinology. Eds. P.R. Larsen, H.M. Kronenberg, S. Melmed et al. 10th ed. Philadelphia: W.B. Saunders, 2002.Singh S., Ilyayeva S. Androgen Insensitivity Syndrome. In: StatPearls. Treasure Island (FL), 2023 Feb 28.Singh S., Ilyayeva S. Androgen Insensitivity Syndrome. In: StatPearls. Treasure Island (FL), 2023 Feb 28.Berglund A., Johannsen T.H., Stochholm K. et al. Incidence, Prevalence, diagnostic delay, and clinical presentation of female 46,XY disorders of sex development. J Clin Endocrinol Metab. 2016;101(12):4532–40. https://doi.org/10.1210/jc.2016-2248.Berglund A., Johannsen T.H., Stochholm K. et al. Incidence, Prevalence, diagnostic delay, and clinical presentation of female 46,XY disorders of sex development. J Clin Endocrinol Metab. 2016;101(12):4532–40. https://doi.org/10.1210/jc.2016-2248.Boehmer A.L., Brinkmann O., Brüggenwirth H. et al. Genotype versus phenotype in families with androgen insensitivity syndrome. J Clin Endocrinol Metab. 2001;86(9):4151–60. https://doi.org/10.1210/jcem.86.9.7825.Boehmer A.L., Brinkmann O., Brüggenwirth H. et al. Genotype versus phenotype in families with androgen insensitivity syndrome. J Clin Endocrinol Metab. 2001;86(9):4151–60. https://doi.org/10.1210/jcem.86.9.7825.Gulía C., Baldassarra S., Zangari A. et al. Androgen insensitivity syndrome. Eur Rev Med Pharmacol Sci. 2018;22(12):3873–87. https://doi.org/10.26355/eurrev_201806_15272.Gulía C., Baldassarra S., Zangari A. et al. Androgen insensitivity syndrome. Eur Rev Med Pharmacol Sci. 2018;22(12):3873–87. https://doi.org/10.26355/eurrev_201806_15272.Dey R., Biswas S.C., Chattopadhvav N. et al. The XY female (Androgen Insensitivity Syndrome)-runs in the family. J Obstet Gynaecol India. 2012;62(3):332–3. https://doi.org/10.1007/s13224-011-0112-x.Dey R., Biswas S.C., Chattopadhvav N. et al. The XY female (Androgen Insensitivity Syndrome)-runs in the family. J Obstet Gynaecol India. 2012;62(3):332–3. https://doi.org/10.1007/s13224-011-0112-x.Batista R.L., Costa E.M.F., Rodrigues A.S. et al. Androgen insensitivity syndrome: a review. Arch Endocrinol Metab. 2018;62(2):227–35. https://doi.org/10.20945/2359-3997000000031.Batista R.L., Costa E.M.F., Rodrigues A.S. et al. Androgen insensitivity syndrome: a review. Arch Endocrinol Metab. 2018;62(2):227–35. https://doi.org/10.20945/2359-3997000000031.Gottlieb B., Pinsky L., Beitel L.K., Trifiro M. Androgen insensitivity. Am J Med Genet. 1999;89(4):210–7. https://doi.org/10.1002/(sici)1096-8628(19991229)89:43.0.co;2-p.Gottlieb B., Pinsky L., Beitel L.K., Trifiro M. Androgen insensitivity. Am J Med Genet. 1999;89(4):210–7. https://doi.org/10.1002/(sici)1096-8628(19991229)89:43.0.co;2-p.Doehnert U., Bertelloni S., Werner R. et al. Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome. Sex Dev. 2015;9(2):69–74. https://doi.org/10.1159/000371464.Doehnert U., Bertelloni S., Werner R. et al. Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome. Sex Dev. 2015;9(2):69–74. https://doi.org/10.1159/000371464.Lanciotti L., Cofini M., Leonardi A. et al. Different clinicalpresentations and management in Complete Androgen Insensitivity Syndrome (CAIS). Int J Environ Res Public Health. 2019;16(7):1268. https://doi.org/10.3390/ijerph16071268.Lanciotti L., Cofini M., Leonardi A. et al. Different clinicalpresentations and management in Complete Androgen Insensitivity Syndrome (CAIS). Int J Environ Res Public Health. 2019;16(7):1268. https://doi.org/10.3390/ijerph16071268.Mainwaring W.I. The mechanism of action of androgens. Monogr Endocrinol. 1977;10:1–178.Mainwaring W.I. The mechanism of action of androgens. Monogr Endocrinol. 1977;10:1–178.Verhoeven G., Swinnen J.V. Indirect mechanisms and cascades of androgen action. Mol Cell Endocrinol. 1999;151(1–2):205–12. https://doi.org/10.1016/s0303-7207(99)00014-3.Verhoeven G., Swinnen J.V. Indirect mechanisms and cascades of androgen action. Mol Cell Endocrinol. 1999;151(1–2):205–12. https://doi.org/10.1016/s0303-7207(99)00014-3.Galani A., Kitsiou-Tzeli S., Sofokleous C. et al. Androgen insensitivity syndrome: clinical features and molecular defects. Hormones (Athens). 2008;7(3):217–29. https://doi.org/10.14310/horm.2002.1201.Galani A., Kitsiou-Tzeli S., Sofokleous C. et al. Androgen insensitivity syndrome: clinical features and molecular defects. Hormones (Athens). 2008;7(3):217–29. https://doi.org/10.14310/horm.2002.1201.Gobinet J., Poujol N., Sultan C. Molecular action of androgens. Mol Cell Endocrinol. 2002;198(1–2):15–24. https://doi.org/10.1016/s0303-7207(02)00364-7.Gobinet J., Poujol N., Sultan C. Molecular action of androgens. Mol Cell Endocrinol. 2002;198(1–2):15–24. https://doi.org/10.1016/s0303-7207(02)00364-7.Tyutyusheva N., Mancini I., Baroncelli G.I. et al. Complete Androgen Insensitivity Syndrome: from bench to bed. Int J Mol Sci. 2021;22(3):1264. https://doi.org/10.3390/ijms22031264.Tyutyusheva N., Mancini I., Baroncelli G.I. et al. Complete Androgen Insensitivity Syndrome: from bench to bed. Int J Mol Sci. 2021;22(3):1264. https://doi.org/10.3390/ijms22031264.Hiort O., Sinnecker G.H., Holterhus P.M. et al. Inherited and de novo androgen receptor gene mutations: investigation of single-case families. J Pediatr. 1998;132(6):939–43. https://doi.org/10.1016/s0022-3476(98)70387-7.Hiort O., Sinnecker G.H., Holterhus P.M. et al. Inherited and de novo androgen receptor gene mutations: investigation of single-case families. J Pediatr. 1998;132(6):939–43. https://doi.org/10.1016/s0022-3476(98)70387-7.Brown T.R. Human androgen insensitivity syndrome. J Androl. 1995;16(4):299–303.Brown T.R. Human androgen insensitivity syndrome. J Androl. 1995;16(4):299–303.Gelmann E.P. Androgen receptor mutations in prostate cancer. Cancer Treat Res. 1996;87:285–302. https://doi.org/10.1007/978-1-4613-1267-3_12.Gelmann E.P. Androgen receptor mutations in prostate cancer. Cancer Treat Res. 1996;87:285–302. https://doi.org/10.1007/978-1-4613-1267-3_12.Sack J.S., Kish K.F., Wang C. et al. Crystallographic structures of the ligand-binding domains of the androgen receptor and its T877A mutant complexed with the natural agonist dihydrotestosterone. Proc Natl Acad Sci U S A. 2001;98(9):4904–9. https://doi.org/10.1073/pnas.081565498.Sack J.S., Kish K.F., Wang C. et al. Crystallographic structures of the ligand-binding domains of the androgen receptor and its T877A mutant complexed with the natural agonist dihydrotestosterone. Proc Natl Acad Sci U S A. 2001;98(9):4904–9. https://doi.org/10.1073/pnas.081565498.Lobaccaro J.M., Poujol N., Chiche L. et al. Molecular modeling and in vitro investigations of the human androgen receptor DNA-binding domain: application for the study of two mutations. Mol Cell Endocrinol. 1996;116(2):137–47. https://doi.org/10.1016/0303-7207(95)03709-8.Lobaccaro J.M., Poujol N., Chiche L. et al. Molecular modeling and in vitro investigations of the human androgen receptor DNA-binding domain: application for the study of two mutations. Mol Cell Endocrinol. 1996;116(2):137–47. https://doi.org/10.1016/0303-7207(95)03709-8.Brüggenwirth H.T., Boehmer A.L., Lobaccaro J.M. et al. Substitution of Ala564 in the first zinc cluster of the deoxyribonucleic acid (DNA)-binding domain of the androgen receptor by Asp, Asn, or Leu exerts differential effects on DNA binding. Endocrinology. 1998;139(1):103–10. https://doi.org/10.1210/endo.139.1.5696.Brüggenwirth H.T., Boehmer A.L., Lobaccaro J.M. et al. Substitution of Ala564 in the first zinc cluster of the deoxyribonucleic acid (DNA)-binding domain of the androgen receptor by Asp, Asn, or Leu exerts differential effects on DNA binding. Endocrinology. 1998;139(1):103–10. https://doi.org/10.1210/endo.139.1.5696.Greep R.O. Reproductive endocrinology: concepts and perspectives, an overview. Recent Prog Horm Res. 1978;34:1–23. https://doi.org/10.1016/b978-0-12-571134-0.50005-3.Greep R.O. Reproductive endocrinology: concepts and perspectives, an overview. Recent Prog Horm Res. 1978;34:1–23. https://doi.org/10.1016/b978-0-12-571134-0.50005-3.Bouvattier C., Carel J.-C., Lecointre C. et al. Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene. J Clin Endocrinol Metab. 2002;87(1):29–32. https://doi.org/10.1210/jcem.87.1.7923.Bouvattier C., Carel J.-C., Lecointre C. et al. Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene. J Clin Endocrinol Metab. 2002;87(1):29–32. https://doi.org/10.1210/jcem.87.1.7923.Griffin J.E., Edwards C., Madden J.D. et al. Congenital absence of the vagina. The Mayer-Rokitansky-Kuster-Hauser syndrome. Ann Intern Med. 1976;85(2):224–36. https://doi.org/10.7326/0003-4819-85-2-224.Griffin J.E., Edwards C., Madden J.D. et al. Congenital absence of the vagina. The Mayer-Rokitansky-Kuster-Hauser syndrome. Ann Intern Med. 1976;85(2):224–36. https://doi.org/10.7326/0003-4819-85-2-224.Hannema S.E., Scott I.S., Rajpert-De Meyts E. et al. Testicular development in the complete androgen insensitivity syndrome. J Pathol. 2006;208(4):518–27. https://doi.org/10.1002/path.1890.Hannema S.E., Scott I.S., Rajpert-De Meyts E. et al. Testicular development in the complete androgen insensitivity syndrome. J Pathol. 2006;208(4):518–27. https://doi.org/10.1002/path.1890.Bertelloni S., Dati E., Baroncelli G.I., Hiort O. Hormonal management of complete androgen insensitivity syndrome from adolescence onward. Horm Res Paediatr. 2011;76(6):428–33. https://doi.org/10.1159/000334162.Bertelloni S., Dati E., Baroncelli G.I., Hiort O. Hormonal management of complete androgen insensitivity syndrome from adolescence onward. Horm Res Paediatr. 2011;76(6):428–33. https://doi.org/10.1159/000334162.Birnbaum W., Bertelloni S. Sex hormone replacement in disorders of sex development. Endocr Dev. 2014;27:149–59. https://doi.org/10.1159/000363640.Birnbaum W., Bertelloni S. Sex hormone replacement in disorders of sex development. Endocr Dev. 2014;27:149–59. https://doi.org/10.1159/000363640.Reddy D.S. Testosterone modulation of seizure susceptibility is mediated by neurosteroids 3alpha-androstanediol and 17beta-estradiol. Neuroscience. 2004;129(1):195–207. https://doi.org/10.1016/j.neuroscience.2004.08.002.Reddy D.S. Testosterone modulation of seizure susceptibility is mediated by neurosteroids 3alpha-androstanediol and 17beta-estradiol. Neuroscience. 2004;129(1):195–207. https://doi.org/10.1016/j.neuroscience.2004.08.002.Auer M.K., Birnbaum W., Hartmann M.F. et al. Metabolic effects of estradiol versus testosterone in complete androgen insensitivity syndrome. Endocrine. 2022;76(3):722–32. https://doi.org/10.1007/s12020-022-03017-8.Auer M.K., Birnbaum W., Hartmann M.F. et al. Metabolic effects of estradiol versus testosterone in complete androgen insensitivity syndrome. Endocrine. 2022;76(3):722–32. https://doi.org/10.1007/s12020-022-03017-8.Poujol N., Lobaccaro J.M., Chiche L. et al. Functional and structural analysis of R607Q and R608K androgen receptor substitutions associated with male breast cancer. Mol Cell Endocrinol. 1997;130(1–2):43–51. https://doi.org/10.1016/s0303-7207(97)00072-5.Poujol N., Lobaccaro J.M., Chiche L. et al. Functional and structural analysis of R607Q and R608K androgen receptor substitutions associated with male breast cancer. Mol Cell Endocrinol. 1997;130(1–2):43–51. https://doi.org/10.1016/s0303-7207(97)00072-5.Coutant R., de Casson F.B., Rouleau S. et al. Divergent effect of endogenous and exogenous sex steroids on the insulin-like growth factor I response to growth hormone in short normal adolescents. J Clin Endocrinol Metab. 2004;89(12):6185–92. https://doi.org/10.1210/jc.2004-0814.Coutant R., de Casson F.B., Rouleau S. et al. Divergent effect of endogenous and exogenous sex steroids on the insulin-like growth factor I response to growth hormone in short normal adolescents. J Clin Endocrinol Metab. 2004;89(12):6185–92. https://doi.org/10.1210/jc.2004-0814.Perry R.J., Farquharson C., Ahmed S.F. The role of sex steroids in controlling pubertal growth. Clin Endocrinol (Oxf). 2008;68(1):4–15. https://doi.org/10.1111/j.1365-2265.2007.02960.x.Perry R.J., Farquharson C., Ahmed S.F. The role of sex steroids in controlling pubertal growth. Clin Endocrinol (Oxf). 2008;68(1):4–15. https://doi.org/10.1111/j.1365-2265.2007.02960.x.Ferlin A., Selice R., Carraro U., Foresta C. Testicular function and bone metabolism – beyond testosterone. Nat Rev Endocrinol. 2013;9(9):548– 54. https://doi.org/10.1038/nrendo.2013.135.Ferlin A., Selice R., Carraro U., Foresta C. Testicular function and bone metabolism – beyond testosterone. Nat Rev Endocrinol. 2013;9(9):548– 54. https://doi.org/10.1038/nrendo.2013.135.Döhnert U., Wünsch L., Hiort O. Gonadectomy in Complete Androgen Insensitivity Syndrome: why and when? Sex Dev. 2017;11(4):171–4. https://doi.org/10.1159/000478082.Döhnert U., Wünsch L., Hiort O. Gonadectomy in Complete Androgen Insensitivity Syndrome: why and when? Sex Dev. 2017;11(4):171–4. https://doi.org/10.1159/000478082.Tack L.J.W., Maris E., Looijenga L.H.J. et al. Management of gonads in adults with androgen insensitivity: an International Survey. Horm Res Paediatr. 2018;90(4):236–46. https://doi.org/10.1159/000493645.Tack L.J.W., Maris E., Looijenga L.H.J. et al. Management of gonads in adults with androgen insensitivity: an International Survey. Horm Res Paediatr. 2018;90(4):236–46. https://doi.org/10.1159/000493645.Lucas-Herald A., Bertelloni S., Juul A. et al. The long-term outcome of boys with Partial Androgen Insensitivity Syndrome and a mutation in the androgen receptor gene. J Clin Endocrinol Metab. 2016;101(11):3959–67. https://doi.org/10.1210/jc.2016-1372.Lucas-Herald A., Bertelloni S., Juul A. et al. The long-term outcome of boys with Partial Androgen Insensitivity Syndrome and a mutation in the androgen receptor gene. J Clin Endocrinol Metab. 2016;101(11):3959–67. https://doi.org/10.1210/jc.2016-1372.Bouvattier C., Mignot B., Lefèvre H. et al. Impaired sexual activity in male adults with partial androgen insensitivity. J Clin Endocrinol Metab. 2006;91(9):3310–5. https://doi.org/10.1210/jc.2006-0218.Bouvattier C., Mignot B., Lefèvre H. et al. Impaired sexual activity in male adults with partial androgen insensitivity. J Clin Endocrinol Metab. 2006;91(9):3310–5. https://doi.org/10.1210/jc.2006-0218.Rasheed M.W., Idowu N.A., Adekunle A.A. et al. Complete androgen insensitivity syndrome with Sertoli cell tumour in a 27-year-old married woman: a case report. Afr J Urol. 2023;29(1):26. https://doi.org/10.1186/s12301-023-00358-2.Rasheed M.W., Idowu N.A., Adekunle A.A. et al. Complete androgen insensitivity syndrome with Sertoli cell tumour in a 27-year-old married woman: a case report. Afr J Urol. 2023;29(1):26. https://doi.org/10.1186/s12301-023-00358-2.Hughes I.A., Deeb A. Androgen resistance. Best Pract Res Clin Endocrinol Metab. 2006;20(4):577–98. https://doi.org/10.1016/j.beem.2006.11.003.Hughes I.A., Deeb A. Androgen resistance. Best Pract Res Clin Endocrinol Metab. 2006;20(4):577–98. https://doi.org/10.1016/j.beem.2006.11.003.GeneReviews®. Eds. M.P. Adam, J. Feldman, G.M. Mirzaa et al. Seattle (WA): University of Washington, Seattle, 1993. Copyright© 1993–2024.GeneReviews®. Eds. M.P. Adam, J. Feldman, G.M. Mirzaa et al. Seattle (WA): University of Washington, Seattle, 1993. Copyright© 1993–2024.Healey A. Embryology of the female reproductive tract. In: Imaging of gynecological disorders in infants and children. Eds. G.S. Mann, J.C. Blair, A.S. Garden. Springer Berlin, Heidelberg, 2012. 21–30. https://doi.org/10.1007/978-3-540-85602-3.Healey A. Embryology of the female reproductive tract. In: Imaging of gynecological disorders in infants and children. Eds. G.S. Mann, J.C. Blair, A.S. Garden. Springer Berlin, Heidelberg, 2012. 21–30. https://doi.org/10.1007/978-3-540-85602-3.Valappil S., Chetan U., Wood N., Garden A. Mayer–Rokitansky–Küster–Hauser syndrome: diagnosis and management. The Obstetrician & Gynaecologist. 2012;14(2):93–8. https://doi.org/10.1111/j.1744-4667.2012.00097.x.Valappil S., Chetan U., Wood N., Garden A. Mayer–Rokitansky–Küster–Hauser syndrome: diagnosis and management. The Obstetrician & Gynaecologist. 2012;14(2):93–8. https://doi.org/10.1111/j.1744-4667.2012.00097.x.Cools M., Looijenga L. Update on the pathophysiology and risk factors for the development of malignant testicular germ cell tumors in Complete Androgen Insensitivity Syndrome. Sex Dev. 2017;11(4):175–81. https://doi.org/10.1159/000477921.Cools M., Looijenga L. Update on the pathophysiology and risk factors for the development of malignant testicular germ cell tumors in Complete Androgen Insensitivity Syndrome. Sex Dev. 2017;11(4):175–81. https://doi.org/10.1159/000477921.Chaudhry S., Tadokoro-Cuccaro R., Hannema S.E. et al. Frequency of gonadal tumours in complete androgen insensitivity syndrome (CAIS): A retrospective case-series analysis. J Pediatr Urol. 2017;13(5):498. e1–498.e6. https://doi.org/10.1016/j.jpurol.2017.02.013.Chaudhry S., Tadokoro-Cuccaro R., Hannema S.E. et al. Frequency of gonadal tumours in complete androgen insensitivity syndrome (CAIS): A retrospective case-series analysis. J Pediatr Urol. 2017;13(5):498. e1–498.e6. https://doi.org/10.1016/j.jpurol.2017.02.013.

The authors declare that there are no conflicts of interest present.