Efficacy and Safety of High Dose Testosterone Therapy in Partial Androgen Insensitivity
S. Bandyopadhyay, W.A.Watson, C. M.Park, P. Abraham, S. Philip, S. Acharya , J.S. Bevan. Department of Endocrinology, Aberdeen Royal Infirmary, Aberdeen, AB25 2ZN.
INTRODUCTION: There have been few reports of the efficacy and safety of high dose androgen therapy in men with partial androgen insensitivity (PAI). We report on the responses of a patient carrying an androgen receptor (AR) mutation predicted (in vitro) to be overcome by high testosterone (T) concentrations.
CASE REPORT: This 29 year old patient had ambiguous genitalia at birth but was found to be 46 XY. He had a small, hypospadiac penis with underdeveloped bifid scrotum. There was no significant family history. After puberty he developed female secondary sexual characteristics. He responded poorly to low dose exogenous androgen and underwent multiple genital reconstructive operations. He was then lost to follow up. On representation in Aberdeen at the age of 27 years his T was 38nmol/l, FSH 3.7u/l, LH 12u/l and oestradiol 240pmol/l. He commenced Sustanon IM weekly injections, initially 250mg for 2 months and then 500mg for 2 years. He has shown significant increase in libido, development of facial and body hair and deepening of voice. His current T is 120nmol/l, FSH 1u/l, LH 3.6u/l and oestradiol 170pmol/l. Lipid profile and haematocrit have remained normal throughout.
DISCUSSION: He was previously shown to have a Serine to Glycine substitution at position 703 in exon D of the androgen receptor ( Prof. I.A.Hughes, Cambridge).We have demonstrated the in-vivo efficacy of pharmacological doses of testosterone in overcoming this AR defect. Significant falls in LH/FSH confirmed negative feedback at pituitary level. High dose Sustanon was well-tolerated with no adverse changes in cardiovascular risk factors.