HRT case presentation: gonadal dysgenesis
A 28-year-old lady who was born with ambiguous genitalia. A decision was made to rear the patient as male, and was subsequently registered as a boy. Investigations demonstrated a chromosomal mosaic pattern 45XO/46XY fitting the category of mixed gonadal dysgenesis. Internal organs were more suggestive of a female type: uterus, vagina, and fallopian tubes, gonads were variable but typically an ovary on one side and a testis on the other. HCG test showed a brisk rise in serum testosterone confirming the presence of testicular tissue.
At age one, following joint consultation with urologists and paediatricians, parents decided to raise their child as a girl. She underwent clitoral reconstruction and vaginoplasty with excellent cosmetic result, followed by gonadectomy a year later.
Growth hormone therapy was commenced at age nine for short stature, and at age twelve oestrogen therapy was introduced to induce puberty.
Ultra-sound of pelvis at age 16 reported uterus of pre-pubertal size, with pubertal changes and an incidental finding of a left ovary. Ethinyloestradiol was stopped to ascertain whether there was any normal oestrogen production and what effect this might have on FSH/LH. Results showed menopausal levels of gonadotrophins and an insignificant level of oestrogen. Ethinyloestradiol 4 mcg daily was re-commenced with gradual dose increments so as not to affect normal breast development. Progesterone was added to prevent breakthrough bleeding.
Severe intermenstrual bleeding and anaemia was experienced on a dose of Ethinyloestradiol 8 mcg therefore oestrogen was stopped temporarily and restarted as HRT. A further two years of oestrogen replacement resulted in breast development and pubic and axillary hair. She is currently on Loestron 20 and has regular withdrawal bleeds.
Oocyte donation has been discussed as a future possibility if she wishes fertility as she has an intact uterus and birth canal.