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Kar B, Sivamani S, Kundavi S, et al. Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree. J Obstet Gynaecol India. 2015;66:358-62doi: 10.1007/s13224-015-0736-3.
Kar, B., Sivamani, S., Kundavi, S., & Varma, T. R. (2016). Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree. Journal of obstetrics and gynaecology of India, 66358-62. https://doi.org/10.1007/s13224-015-0736-3
Kar, Bibhas, et al. "Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree." Journal of obstetrics and gynaecology of India vol. 66 (2016): 358-62. doi: https://doi.org/10.1007/s13224-015-0736-3
Kar B, Sivamani S, Kundavi S, Varma TR. Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree. J Obstet Gynaecol India. 2016 Oct;66:358-62. doi: 10.1007/s13224-015-0736-3. Epub 2015 Jul 29. PMID: 27651630; PMCID: PMC5016389.
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J Obstet Gynaecol India. 2016 Oct;66:358-62. doi: 10.1007/s13224-015-0736-3. Epub 2015 Jul 29.

Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree.

Journal of obstetrics and gynaecology of India

Bibhas Kar, Subbiah Sivamani, Shankar Kundavi, Thankam Rama Varma

Affiliations

  1. Center for Genetic Studies & Research, The Madras Medical Mission, Chennai, India.
  2. Institute of Reproductive Medicine and Woman Health, The Madras Medical Mission, Chennai, India.

PMID: 27651630 PMCID: PMC5016389 DOI: 10.1007/s13224-015-0736-3

Abstract

BACKGROUND: Androgen insensitivity syndrome or testicular feminization syndrome is a rare X-linked recessive disorder, which encompasses a wide range of phenotypes that are caused by numerous different mutations in the androgen receptor gene. Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. People with this form of the condition have the external sex characteristics of females, but do not have a uterus and therefore do not menstruate and are unable to conceive a child (infertile).

METHODS: In this paper, we report three cases of familial complete androgen insensitivity syndrome who presented with primary amenorrhea.

RESULTS: Physical examination, ultrasonography studies, and biochemical, karyotype, and molecular cytogenetic analyses were conducted. Based on the findings, they were diagnosed and confirmed as having complete androgen insensitivity syndrome.

CONCLUSION: A multidisciplinary team is needed from disclosure of the diagnosis, gender assignment, surgical management, hormonal replacement therapy, to counseling and support.

Keywords: 46,XY karyotype; Androgen insensitivity syndrome; Androgen receptor gene; Mutation; X-linked recessive disorder

Conflict of interest statement

The authors declare that there is no conflict of interest. Informed consent Informed consent was obtained from all individual participants included in the study. Ethical approval All procedures perfor

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