Background: Premature ovarian insufficiency (POI) in the pediatric age group is most commonly related to X chromosome abnormalities such as Turner syndrome. Autosomal chromosome microdeletions in ovarian failure are relatively rare. The present study identified new autosomal deletions in three girls with POI.
Case: We present three adolescent girls aged 14-15 years who had not attained menarche. Upon physical examination, there was a lack of breast tissue and no prominent secondary sexual characteristics. Clinical evaluation, hormonal tests, abdominal ultrasonography, and chromosome karyotyping were performed. Chromosome microarray analysis (CMA) was also performed to detect DNA copy number changes. Luteinizing hormone level was significantly increased, while follicular stimulating hormone level was > 25 IU/L with low estradiol levels. Autosomal deletions were detected in all three cases by CMA. The first patient had 0.454 Mb deletion on 15q25.2, the second patient had 1.337 Mb deletion on 19p13.3, and the third patient had 0.163 Mb deletion on 16p11.2.
Conclusions: POI is rare in children and is most commonly associated with X chromosome abnormalities. However, normal karyotype does not exclude the presence of chromosomal abnormality. CMA should be considered in cases with POI to detect microdeletions in autosomal chromosomes.
Keywords: autosomal; chromosomal abnormalities; chromosome karyotype; chromosome microarray analysis; premature ovarian insufficiency.