Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree

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.

Clinical, Biochemical, and Molecular Characterization of Indian Children with Clinically Suspected Androgen Insensitivity Syndrome

“…Patients with MAIS typically have male genitalia, but may present in adulthood with mild gynaecomastia and infertility due to spermatogenic defects in adulthood. Serum testosterone is normal to high in patients with AIS, while LH and FSH levels are generally in the normal range in infancy and childhood but may be elevated in adolescence [Doehnert et al, 2015;Kar et al, 2016].…”