Androgen insensitivity syndrome (AIS) also called testicular feminizing is a rare X linked disorder of sexual differentiation caused by mutation in the androgen receptor (AR) gene, which located on chromosome (Xq11-q12). In reported cases, individuals with complete (CAIS) presented female appearance and normal breast development, absence uterus ovaries, bilateral undescended testis, elevated te...

Results 42 patients (age-neonate to 18 years, 14 (46 XX DSD), 26(46XY DSD) and 2(sex chromosome DSD) were evaluated.46 XX DSD was due to Congenital Adrenal Hyperplasia (CAH) (12/14) and SyndromicDSD(2/14). All presented with clitoromegaly and labioscrotal fusion. 5/12presented in infancy, with Adrenal crisis and severe (prader stage ≥3) virilization(Salt Wasting CAH), 7 had Simple VirilizingCAH...

Congenital insensitivity to pain with anhidrosis syndrome (CIPA); is a rare autosomal recessive disorder presenting insensitivity, sweating inability, and intellectual disability. The incapability sense temperature often leads recurrent severe inadvertent self-inflicted harm; these can result in complications, as patients settle slowly from skin bone harm. We present case of four-year-old boy d...

Dear Editor; We read with interest two recent papers on Congenital insensitivity to pain with anhidrosis, entitled " Congenital insensitivity to pain and anhydrosis (CIPA) syndrome; a report of 4 cases " by Daneshjou et al [1] and " Congenital insensitivity to pain with anhidrosis (HSAN type IV), extremely rare syndrome that can be easily missed by bone and joint surgeons: a case report " by Al...

Androgen receptor (AR) gene mutations have been shown to cause androgen insensitivity syndrome with altered sexual differentiation in XY individuals, ranging from a partial insensitivity with male phenotype and azoospermia to a complete insensitivity with female phenotype and the absence of pubic and axillary sexual hair after puberty. In this study we present an 11-yr-old XY girl, with clinica...

OBJECTIVE To describe sexual function and satisfaction after laparoscopic Davydov vaginoplasty in patients with an absent vagina due to Mayer-Rokitansky-Kuster-Hauser syndrome or androgen insensitivity syndrome compared with a control female population. DESIGN A descriptive study of standardized, validated psychosexual and functional outcomes using a self-report questionnaire. SETTING Two t...

The immunohistochemical reaction to oncostatin M (OSM) was studied in normal human testes at different ages (fetuses, newborns, children, pubertal boys, adults, and elderly men), as well as in several testicular disorders including carcinoma-in-situ cells (CIS), germ cell tumors, benign functioning Leydig cell tumor, androgen insensitivity syndrome, Klinefelter's syndrome, and cryptorchidism. P...