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.

Female with 46, XY karyotype

Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders of androgen synthesis/action. Prophylactic gonadectomy should be considered in patients with 46, XY DSD because of the increased risk of gonadal malignancy. We report two rare cases of 46, XY DSD, including XY pure gonadal dysgenesis and complete androgen insensitivity syndrome, who underwent a prophylactic gonadectomy.

Molecular Analysis of the Y Chromosome in a 46,XY Female Phenotype

This is a case report of 46,XY female phenotype (46,XY karyotype, no pubic hair, blind vagina and absence of uterus)in an 18-year-old patient. To confirm whether a Y chromosome has a structural abnormality, fluorescent in situ hybridization (FISH) with the chromosome X/Y cocktail probe was simultaneously performed, and the six loci [PABY, RPS4Y(sy16, sy17), ZFY, DYS14] on the short arm, one locus (DYZ3) on the centromere and one locus (DYZ1) on the long arm were amplified by polymerase chain reaction (PCR). The probes used FISH hybridized to centromere of the X chromosome and heterochromatin region (Yq12) of the Y chromosome, and all PCR related Y chromosome showed positive band like normal male. From the results obtained, it seemed that the Y chromosome from the 46,XY female was structurely normal. Especially, the SRY gene has been equated with the mammalian testis-determining factor, and absence or point mutation in the SRY gene causes XY female. To detect the point mutations of SRY sequencesn, single-strand conformation polymorphism (SSCP) assay was used. Our results confirm that this patient has no mutation in the SRY gene on the Y chromosome.

Retal Sex Determination by Polymerase Chain Reaction / 대한산부인과학회잡지

Ror fetal sex determination by the PCR method, oilgoprimers to Y- chromosome gene, DYZI, SRY, and AMGL were synthesized genomic DNA was extracted from male and female placenta for the control use. DYZI represented 154 bp single band to 0.001 pg/ml male genomic DNA but did not represent 154 bp band in female genomic DNA, SRY represented 341 bp bandto 1 pg/ml male genomic DNA in 2% agarose gel eleftrophoresis stained with ethidium bromide. DYZI was 1,000 fold sensitive than Sry and AMGL. DYZI and SRY could not identify the PDR failure from female but AMGL identified to 1,000-fold. During the dyal ampiification of female genomic DNA mixed with male genomic DNA, 0.00125 pg/nl, 1:400 part, male genomic DNA contamination represented male band but SRY amplification did not represent male band. It was suggested that SRY gene was deleted in two 46,XY felmle cases. For fetal sex determination, PCR with DYZL, SRY, and AMGL was performed in 10 cases. For fetal sex determination, PCR with DYZL, SRY, and AMGL with karyotyping in 10 cases of chorionic villi sex dietermination, PCR with DYZI, SRY, and AMGL was performed in 10 cases. For feral sex determination, PCR with DYZI, SRY, and AMGL with karyothping result, fetal sex determination, PCR with DYZI, SRY, and AMGL was performed in 10 Cases of choricinic villi and 15 cases of amnionic cells. By the comparison with karyotyping result, fetal sex determination was achieved successfully in all 23 samlies using PCR of SRY and AMGL but false result was detected in 3 cases(13%) using DYZI. Acording to our results, it was concluded that DYZL was 1,000-fold sensitive than SRY and AMGL but could not be used because of its false results, and AMGL and SRY must be used concomitantly for precise sex determination.