Complete Androgen Insensitivity Syndrome: Diagnosis and Psychological Impact in Two Adolescents, A Case Report

@#This case report illustrates two cases of complete androgen insensitivity syndrome (CAIS) which is a rare form of sexual development disorder. Both presented with primary amenorrhea at the age of 18 and 19 years old. The hormonal profiles ruled out hypothyroidism, hyperprolactinemia, and primary ovarian failure. Magnetic resonance imaging of both patients showed the absence of uterus, fallopian tubes, ovaries, but the presence of proximal 1/3rd of the vagina. There is a single testis in the left inguinal region with unknown status of spermatogenesis. Women with CAIS are vulnerable to various psychological conditions caused by the appalling fact of being genotypically male when they have been raised female all their life. The gender confusion, reproductive issues, and how others perceive them require sensitive support. Hence, accentuate the need to explore and address the emotional, psychological, and psychiatric vulnerabilities, religious and spiritual beliefs in issues of relationships, infertility, and conception.

Síndrome de Insensibilidad Completa a Andrógenos (SICA): reporte de un caso clínico / Complete Androgen Insensitivity Syndrome (CAIS): report of a clinical case

INTRODUCTION: Complete Androgen Insensitivity Syndrome (CAIS) is a X-linked recessive disorder characterized by a complete resistance of the Androgen Receptor (AR) to androgens. As a result, affected individuals present complete female external genitalia, but are genetically male with a 46, XY karyotype. The typical presentation for this syndrome is either inguinal swellings in a new born or infant, or primary amenorrhoea in an adolescent. CAIS is commonly diagnosed in one of these clinical scenarios, although recently prenatal diagnosis has been reported. We present a case of a phenotypically female infant with an inguinal swelling, which was biopsied and exposed as testicular tissue, doing the diagnosis of CAIS. A review of the literature on this disorder is made.

Cushingoid features in an obese female with XY Karyotype / Journal of the ASEAN Federation of Endocrine Societies

@#Disorders of sexual development are congenital in nature. Complete androgen insensitivity syndrome (CAIS) is a rare disorder with an incidence of nearly 1 in 20,000 male births. The majority of patients present with complaints of primary amenorrhoea and are phenotypically female but genotypically male. We report a case of a 40-year-old female presenting with backache and skin ulcers who was found to have exogenous Cushing’s syndrome with long glucocorticoid administration and suspected CAIS. The ulcers were secondary to intramuscular pentazocine injections.

Androgen insensitivity / Philippine Journal of Obstetrics and Gynecology

Intersex is a general term used for a variety of conditions in which a person is born with a reproductive or sexual anatomy that doesn't fit the typical definitions of male or female. Androgen Insensitivity Syndrome (AIS), formerly known as testicular ferminization, is one that falls into this category. AIS is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in chromosomally male individuals. This paper presents the first recorded case of Androgen Insensitivity Syndrome in our institution in a phenotypically female patient with primary amenorrhea, physical examination findings of inguinal mass, full breast development, blind ending vagina, scanty pubic hair, absent uterus, absent ovaries, absent axillary hair and an XY karyotype. This paper also aims to discuss steps in the diagnosis and management of the condition, its legal impacts and the importance of psychological counseling for patients.