GONADAL DYSGENESIS, 46,XX
\ɡˈɒne͡ɪdə͡l dɪsd͡ʒˈɛnɪsˌɪs], \ɡˈɒneɪdəl dɪsdʒˈɛnɪsˌɪs], \ɡ_ˈɒ_n_eɪ_d_əl d_ɪ_s_dʒ_ˈɛ_n_ɪ_s_ˌɪ_s]\
Sort: Oldest first
-
The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LH and FSH concentration. The syndrome is sometimes called "pure gonadal dysgenesis," but this designation may also refer to gonadal dysgenesis with a 46,XY karyotype (GONADAL DYSGENESIS, 46,XY).
By DataStellar Co., Ltd
Word of the day
Elizabeth Sara Sheppard
- An English novelist; born at Blackheath, 1830; died Brixton, March 13, 1862. She wrote noted "Charles Auchester"(1853), mystical art novel; "Counterparts, or the Cross of Love"(1854); "My First Season"(1855); "The Double Coronet"(1856); "Rumor", a musical and artistic novel(1858).