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ISSN 0188-9796 (Print)

2012, Number 1

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Rev Endocrinol Nutr 2012; 20 (1)

Low proportion mosaicism of X chromosome in patients with idiopathic premature ovarian failure

López-Juárez N, Mayorga J, Cravioto MC

Language: Spanish
References: 15
Page: 19-24
PDF size: 93.98 Kb.


ABSTRACT

Background: Among the causes of premature ovarian insufficiency (POI) are chromosomal abnormalities, including low-level X chromosome mosaicism. Its frequency and biological significance are not well understood. Objective: Estimate the prevalence and types of chromosomal abnormalities in women with idiopathic POI. Identify the phenotypic characteristics of affected patients. Materials and methods: Cross-sectional, descriptive and prolective study conducted among women with idiopathic premature ovarian insufficiency. Clinical and hormonal characteristics of 32 women with idiopathic POI were collected. The prevalence frecuency of chromosomal abnormalities was estimated in karyotypes performed in leucocytes of peripheral blood. The phenotypic characteristics of the cases with abnormal karyotype were described. Results: Among 15 cases studied with karyotype two (13.3%) were detected to be carriers of mosaicism 46,XX/45,X, with low proportion of the 45,X cellular line. The proportion of aneuploid cells was 2% in case 1 and 3% in case 2. A higher proportion of aneuploid cells (7%) was detected by fluorescence in situ hybridization (FISH) in case 1. A common phenotype was not identified among the affected women. Their height, age at menarche and duration of ovarian function were different. Conclusions: Mosaicisms 46,XX/45,X might explain 13.3% of cases with idiopathic primary ovarian insufficiency included in this series. Even though the proportion of 45,X cells (2 and 3%) found by us is lower than that considered to have clinical relevance (≥ 5%), based on of our findings it is not possible to rule out that it can also be significant.


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