M.M., a 31-year old laborer from Valenzuela consulted for genital ambiguity. The patient was reared as female and developed female secondary sexual characteristics. The patient, however, was psychologically male. The condition was also noted in 2 siblings, 6 cousins and 2 maternal "uncles". The phenotype was that of a normal female. After clinical investigation, the patient was diagnosed as having partial androgen insensitivity syndrome. Partial androgen insensitivity is a tenth as common as the complete form, and the pedigree analysis is consistent with an X-linked trait. Phenotypes vary from individuals with normal female external genitalia through patients with genital ambiguity to those with normal male phenotype who have a small phallus and are fertile. The pathology identified is a quantitative deficiency of the androgen receptor and/or qualitative abnormal androgen receptor. Diagnosis is made by clinical examination, phenotype, with measurement of plasma testosterone and its receptors. There is no specific therapy for this condition. Sex of rearing is dependent on the age of diagnosis and degree of sexual ambiguity. Others suggest that reconstructive surgery should be delayed until the patient can be included in the decision making process.
Human ; Adult ; DISORDERS OF SEX DEVELOPMENT