Abstract
Objective
Premature ovarian insufficiency (POI) is defined as a primary ovarian defect characterized
by absent menarche (primary amenorrhea) or premature depletion of ovarian follicles
before the age of 40 (secondary amenorrhea) with hypergonadotropism and hypoestrogenism.
Methods
We studied the clinical, biological, and genetic data related to 50 POI patients with
a mean age of menopause of 29 years (94% with secondary amenorrhea, 6% with primary amenorrhea and 15% with a family
history of POI). Seventeen patients were affected by endocrine autoimmune diseases,
antral follicles were observed in 31 patients by ultrasonography.
Results
Karyotype analysis did not show any abnormality of the X chromosome. No mutation in
FSH receptor and GDF-9 genes was reported, while in one patient a variant of BMP-15
gene (A180T) was found. Four patients had fragile X mental retardation 1 gene (FMR1)
premutation and one an intermediate sized CGG repeats of the same gene. Two patients
with FMR1 premutation were sister and developed secondary amenorrhea at the age of
34 and 37 years. The other two patients presented with oligoamenorrhea at the age of 39 and
34 years. The patient harboured the intermediate sized CGG repeats developed secondary
amenorrhea at the age of 33 years.
Conclusions
The genetic analysis performed on a cohort of patients with POI revealed that 8% had
FMR1 premutation and only one patient a previously known variant of BMP-15 gene. No
alteration of the karyotype and FSH receptor and GDF-9 genes was evidenced.
Keywords
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Article info
Publication history
Published online: October 16, 2012
Accepted:
September 29,
2012
Received in revised form:
September 28,
2012
Received:
July 19,
2012
Identification
Copyright
© 2012 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
