ANDROGEN INSENSITIVITY SYNDROMES, PARTIAL
\ˈandɹəd͡ʒən ɪnsˌɛnsɪtˈɪvɪti sˈɪndɹə͡ʊmz], \ˈandɹədʒən ɪnsˌɛnsɪtˈɪvɪti sˈɪndɹəʊmz], \ˈa_n_d_ɹ_ə_dʒ_ə_n ɪ_n_s_ˌɛ_n_s_ɪ_t_ˈɪ_v_ɪ_t_i s_ˈɪ_n_d_ɹ_əʊ_m_z]\
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A familial form of PSEUDOHERMAPHRODITISM transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN; AR) gene. Severity of the defect in AR quantity or quality correlates with their phenotypes. The phenotype spectrum varies from those with normal female external genitalia in ANDROGEN-INSENSITIVITY SYNDROME, through those with genital ambiguity in Reifenstein Syndrome, to that of a normal male with INFERTILITY.
By DataStellar Co., Ltd
Nearby Words
- androgen dependent epididymal secretory protein
- androgen dependent epididymal secretory proteins
- androgen insensitivity syndrome
- androgen insensitivity syndrome, complete
- androgen insensitivity syndrome, partial
- Androgen Insensitivity Syndromes, Partial
- androgen receptor
- androgen receptors
- androgenesis
- androgenetic
- androgenetic alopecia