Premature ovarian failure in a woman with a balanced 15;21 translocation: a case report

Sayedehafagh Hosseini,Marzieh Vahid Dastjerdi,Zahra Asgari,Haydeh Samiee

doi:10.1186/1752-1947-5-250

Sayedehafagh Hosseini, Marzieh Vahid Dastjerdi + Show 2 more

Open Access

https://doi.org/10.1186/1752-1947-5-250

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Abstract

IntroductionA case of premature ovarian failure with concomitant findings of Robertsonian translocation between 15 and 21 chromosomes is reported here. The aforementioned karyotypic aberration has not been reported in the context of premature ovarian failure to date.Case presentationWe present a case of premature ovarian failure in a 27-year-old infertile Kurdish Iranian woman with a Robertsonian 15;21 translocation.ConclusionsThe diagnosis of premature ovarian failure of unknown etiology, but with karyotypic evidence of a balanced autosomal translocation, suggests the possible role of autosomal genes in the pathogenesis of ovarian follicular attrition.

Highlights

A case of premature ovarian failure with concomitant findings of Robertsonian translocation between 15 and 21 chromosomes is reported here
A significant family history of early menopause is found in about 5% of cases of premature ovarian failure (POF) [1]
It is possible that translocations such as X monosomy (Turner syndrome) lead to premature ovarian failure by causing aberrations in pairing or X inactivation during folliculogenesis [2] rather than interrupting specific genes that are important in ovarian development

Summary

Introduction

A significant family history of early menopause is found in about 5% of cases of premature ovarian failure (POF) [1]. Case presentation Our patient, a 27-year-old Iranian Kurdish woman under evaluation for infertility, had experienced secondary amenorrhea from the age of 24. She had received hormonal replacement for the past three years, which resulted in cyclical bleeding, but she remained anovulatory. Her height and weight were in the 90th and 50th percentiles, respectively, and she had a body mass index of 21 kg/m2 Her arm span to height and upper to lower segment ratios were both normal. Hormonal evaluation showed elevated follicle stimulating hormone (FSH) (25IU/mL) and leutenizing hormone (LH) (22IU/mL) levels Her thyroid stimulating hormone (TSH), testosterone and prolactin levels were within normal limits

Findings

Discussion

Conclusions