Paddy Moore

Non-chromosomal, non-iatrogenic premature ovarian failure in an adolescent population: a case series.

STUDY OBJECTIVE To review a cohort of patients with non-chromosomal, non-iatrogenic premature ovarian failure (POF) presenting to the Gynaecology Clinic of the Royal Childrens Hospital, Melbourne. DESIGN Case series SETTING The Department of Gynaecology, Royal Childrens Hospital, Melbourne, Victoria, Australia. PARTICIPANTS Adolescent patients with non-chromosomal, non-iatrogenic premature ovarian failure RESULTS Seventeen patients with non-chromosomal, non-iatrogenic POF were identified between 1990 and 2006. The average age at the time of diagnosis was 16.1 years. 58.8% (10/17) presented with primary amenorrhea, 23.5% (4/17) with secondary amenorrhea and 17.6% (3/17) with oligomenorrhea. 41.1% (7/17) were positive for anti-nucleic acid antibodies and one patient had antithyroid antibodies. Two sets of sisters were identified. CONCLUSION Non-chromosomal, non-iatrogenic POF in an adolescent population is poorly characterized and its incidence unknown. It most commonly presents as primary amenorrhea, but may also present as a disturbance in a previously established menstrual cycle. Like adult onset POF, there appears to be an association with autoimmune conditions although, in our population, overt autoimmune conditions were rare. The occurrence of POF in two sets of sisters raises the possibility of a genetic basis of the condition being more significant in the younger age group, and provides an interesting cohort for further studies in the area.

Gonadal Dysgenesis with a Difference

We report here an exceptional clinical finding of a 46,XY phenotypic female with complete gonadal dysgenesis, but who was found unexpectedly to have absence of the uterus and posterior vagina. Extensive review of current and past literature failed to confirm other reports of this variant form of complete gonadal dysgenesis.