نتایج جستجو برای: androgen insensitivity syndrome
تعداد نتایج: 647111 فیلتر نتایج به سال:
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...
Even though ship accidents at sea has many economic and environmental implications on Greece, ships formulate routes according to their best judgment. In this study we take a dataset spanning in 2.5 years from the AIS network, which is transmitting in public a ship's identity and location, and we load it in a trajectory database supported by the Hermes MOD system to begin an analysis by extract...
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...
Androgens are essential for normal male sex differentiation and are responsible for the normal development of male secondary sexual characteristics at puberty. The physiological effects of androgens are mediated by the androgen receptor (AR). Mutations in the AR gene are the most common cause of androgen insensitivity syndrome. The present study undertook a genetic analysis of the AR gene in tw...
Mutations in the androgen receptor (AR) gene, rendering the AR protein partially or completely inactive, cause androgen insensitivity syndrome, which is a form of a 46,XY disorder of sex development (DSD). We present 3 novel AR variants found in a cohort of Indonesian DSD patients: p.I603N, p.P671S, and p.Q738R. The aim of this study was to determine the possible pathogenic nature of these newl...
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