PARTIAL INSENSITIVITY TO ANDROGENS IN SIBLINGS VITH DIFFERENT PHENOTYPIC ASPECTS: RECEPTORS-INDUCTION WITH LONG TERM ANDROGEN THERAPY

Case 1 : Born 1976, female sex assigned, Karine. Examination at age 16 months : arbiguous genitalia (Prader II), phallus 1,5 cm length, with erections, palpable gonads in inguinal area; genitography : rudimentary vagina. Laparotomy : no uterus, 2 testis with epididymis, normal histology. Caryotype XY. Testosterone raises from 14 to 203 ng% with HCG. At age 5, bilateral orchidectomy is performed and phalloplasty in order to suppress erections and to confirm female sex. At age 9, Karine is a well being little girl. Binding capacity of DHT receptors on sexual skin fibroblasts is 204 fentcmoles/mg DNA, kd : 0,8 nM. Case 2 : Born 1979, male sex assigned, Mickael.Micropenis 0,5 cm length. No circonferential forehead skin. XY caryotype. Testosterone raises from 16 to 65 ng% with HCG. No mullerian structure seen at genitography. Normal male urethre. With androgen therapy, penis size reaches 4 cm length with erections and lack of bone age excess of maturation. At age 6, orchidopexy. Fair male evolution. Before treatment, aged 2, binding capacity of DHT-receptors on sexual skin fibroblasts is 286 fentomoles/mg DNA, Kd : 0,65 nM (N : 400 to 800). At age 7, receptors level is 484 fentomoles/mg DNA, Kd : 0,33 nM on penis skin and 890 fentomoles/mg DNA, Kd : 0,54 nM on scrotal skin. Then, a partial receptor deficiency is expressed in different phenotypic way in these two siblings with XY caryotype since the one was maintened in the female sex and the other in the male sex. In this latter, normalization of external genitalia was obtained with long term androgen therapy which is explained by the remarkable raise of receptor-sites observed at 5 years intervall.