MALE PSEUDOHERMAPHRODITISM DUE TO PRIMARY 5-ALPHA-REDUCTASE DEFICIENCY - VARIATION IN GENDER IDENTITY REVERSAL IN 7 MEXICAN PATIENTS FROM 5DIFFERENT PEDIGREES

In the present study, we describe the clinical, endocrinological, psyc hosexual and biochemical features of 7 Mexican male pseudohermaphrodit es with primary 5 alpha-reductase deficiency in whom heterogeneity in the pattern of gender identity change at puberty was observed. The pat ients belonged to 5 different pedigrees from diverse locations in Mexi co. Six of them were admitted to the Hospital during or after puberty. The one prepubertal subject was the sibling of a previously studied p atient. Basal serum gonadotropins were determined by double antibody r adioimmunoassay. Basal and choriogonadotropin (CG)-stimulated concentr ations of androstenedione (A), testosterone (T) and dihydrotestosteron e (DHT) were determined by radioimmunoassay after extraction and separ ation by celite chromatography. Urinary aetiocholanolone, androsterone and C19 and C21 5 beta/5 alpha metabolite ratios were analyzed by cap illary gas chromatography. Enzyme activity and androgen receptors were studied in fibroblasts cultured from genital skin. Psychological asse ssment was performed using the Bender-Gestalt Wechsler Adult Intellige nce Scale, the Rorschach Ink Blot and the Thematic Apperception Tests. All 7 patients were unambiguously reared as females; three spontaneou sly changed their gender identity and role from female to male after p uberty, another one changed during psychotherapy at the end of puberty . Two patients (one prepubertal and the other pubertal) have been unde r therapy during 1.5 years, but due to familial and social factors a f emale gender has prevailed. The remaining patient consulted at age 15 because of virilization; her female gender identity did not change aft er more than one year of treatment and due to the fact she was depress ed and had suicidal tendencies, the penis and testes were removed. Imm ediately after starting to feminize with exogenous estrogens, she chan ged her gender identity and role. Baseline serum T concentrations were normal in 4 of the postpubertal cases, while 2 had low levels; DHT va lues were low to low normal. In all 7 cases the T/DHT (pre and/or post CG) ratio was increased while high urinary aetiocholanolone/androster one ratios and C19 and C21 5 beta/5 alpha metabolite ratios were alway s documented. Five subjects had decreased 5 alpha-reductase activity i n fibroblasts cultured from genital skin, whilst the remaining 2 had a normal activity. A normal amount and stability of the androgen recept or at 42C was detected in all cases. This report confirms and extends previous studies that patients with primary 5 alpha-reductase deficien cy, despite being reared as females, generally change their gender rol e during or after puberty due to virilization of their external genita lia and theoretically to the masculinization of the brain. The develop ment and course of this change also depends on the subject's personali ty traits, personal insight and the sociocultural factors sorrounding him.