Endocrine Abstracts

We present, the first reported case of twins conceived by Assisted Reproductive Technology (Gamete Intra-fallopian Transfer Therapy; GIFT), both diagnosed to have Complete Androgen Insensitivity Syndrome (CAIS).

Eighteen-year-old twins presented to the Endocrine clinic with primary amenorrhoea. They were conceived by GIFT and were born premature at 34 weeks and delivered by forceps. On examination, they were two 18 year olds with normal female appearance, normal BMI and carrying angle. They had stage 4 breasts and pubic hair stage 3, with externally normal female genitalia.

Endocrine investigations in both twins were as follows: -Twin 1- LH=31.6 U/l; FSH=13.8 U/l; serum oestradiol=123 pmol/l and serum testosterone=24 pmol/l and MRI scan of abdomen and pelvis showed visible vagina but no cervix/uterus or ovaries and the appearance of intra-abdominal testes sited at the internal inguinal ring.

Twin 2- LH=24 U/l; FSH=2.3; serum oestradiol=116 pmol/l; serum testosterone=31 pmol/l and MRI scan of abdomen showed no visible uterus and ovaries.

The karyotype study of both twins revealed 46, XY confirming diagnosis of androgen insensitivity syndrome.

Discussion: Recent studies have raised concern and there is growing evidence that ART may be associated with a wide variety of abnormalities including multiple births, low birth weight infants, chromosomal abnormalities, especially of sex hormones and imprinting anomalies.

The abnormalities such as AIS, which may present in early adult life, will only now start to be able to be diagnosed in this patient group. This calls for a retrospective audit study of all ART conceptions with techniques now available to be used on the parent as well as the offspring, which may lead to possible causes of the abnormality either in the parent or as a result of the process.