syndrome in a cohort of Sri Lankan children with 46 XY disorders of sex development (46, XY DSD).
Molecular basis of androgen insensitivity
. Mol Cell Endocrinol 2001;179:105-109.
The higher proportion of partial androgen insensitivity
syn-drome (PAIS)/5[alpha]-reductase deficiency in the preset study may be due to high rate of consanguineous marriages in this study population, and it showed comparative results of previous studies.10,19-21
Complete Androgen Insensitivity
Syndrome Caused by a Novel Mutation in the Ligand-Binding Domain of the Androgen Receptor: Functional Characterization.
The 46, XY DSD can be categorized as disorders of testis development (e.g., complete or partial gonadal dysgenesis), disorders of androgen synthesis [e.g., 3[beta]-hydroxysteroid dehydrogenase 2, 17[alpha]-hydroxylase/17,20-lyase, 17[beta]-hydroxysteroid dehydrogenase, or 5[alpha]-reductase type 2 deficiency (5ARD)], disorders of androgen action (e.g., androgen insensitivity
syndrome due to mutations in the androgen receptor gene), and other conditions affecting sex development.
Conclusion: Androgen insensitivity
syndrome (AIS) in its various forms is the commonest of all XY DSD.
Male Gender Identity in Complete Androgen Insensitivity
Syndrome, 40 Archives Sexual Behav.
Hughes, "Androgen insensitivity
syndrome," Best Practice & Research.
The number of CAG repeats over 38 is diagnostically useful and is often associated with androgen insensitivity
Syndrome (AIS) is a Disorder of Sexual Differentiation (DSD), characterized by variable target tissue resistance to androgens.
Majority of cases described are middle-aged postmenopausal females, age ranges from 30-70 years.4 Only few cases of GLPLS are reported in males.5 One case was reported in a patient of androgen insensitivity
syndrome.6 It usually occurs sporadically however a familial case of GLPLS syndrome has been described in a mother and daughter, both were positive for HLA DR1.7 T cell-mediated autoimmunity seems to play a role.8 Associated conditions described are hyperthyroidism, HBV vaccination, and autoimmunity.9 A preceding or concomitant history of typical LP may be present.10
In 2010, for example, this was seen in a woman with complete androgen insensitivity
syndrome, so in her, androgens were not affecting hair follicles.
Examples of these conditions are congenital adrenal hyperplasia and androgen insensitivity
She had no reproductive organs thanks to a condition called androgen insensitivity
The incidence of androgen insensitivity
syndrome is estimated to be 1:20, 000-64, 000 male births and with variable phenotype expression, this syndrome can present as complete or partial forms.