<unk>  is due to hormone resistance which may be due to defective<unk>  receptor (AR) function by either abnormal<unk>  receptor (AR) binding, decreased receptor binding, or impaired<unk>  receptor (AR) binding.<unk>  is an X linked disorder. The development of<unk>  is a result of genetic mutations of the<unk>  receptor (AR) gene located on the chromosome Xq11-12. Associated conditions include primary amenorrhea, infertility and dyspareunia.<unk>  receptor (AR) gene defects inhibit the normal development of both internal and external genital structures in 46XY individuals, causing a variety of phenotypes ranging from male infertility to completely normal female external genitalia.<unk>  <unk>  represents a spectrum of defects in<unk>  action and can be subdivided into three broad phenotypes such as complete, partial and mild<unk> . A multidisciplinary approach is recommended for clinical management from infancy through to adulthood. Hormone replacement therapy is needed following gonadectomy. Patients who have decided to retain their gonads are considered to be at risk for developing germ cell tumors and for these the sensitive circulating tumor markers may become available soon. Surgical approach to the<unk>  involves vaginal dilation or gonadectomy or determination of sex which depend on various factors such as the type of<unk> , age, sex and preventive measures to be taken in adolescence and adulthood.
Androgen insensitivity syndrome
Kallmann syndrome
Kallman syndrome
Turner syndrome
Wolman disease
Kostmann syndrome
Angelman syndrome
Hypogonadotrophic hypogonadism