Premature Ovarian Insufficiency with a Balanced Reciprocal Translocation of Chromosomes 1 and 13
ACOG ePoster. Wiltshire A.
Apr 27, 2018; 211786
Ashley Wiltshire
Ashley Wiltshire
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Abstract
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Introduction: Premature ovarian insufficiency (POI) is defined as hypergonadotropic hypogonadism before the age of 40 years. Though most commonly deemed as idiopathic, specific etiologies include genetic abnormalities, autoimmune conditions, infections, and toxin exposure. Genetic etiologies of POI are usually due to abnormalities involving the X chromosome and are rarely associated with autosomal mutations.

Methods: The clinical case was analyzed and followed with a literature review.

Results: The patient is a 36-year-old G0 female who presented with four months of secondary amenorrhea, a recent abrupt development of kidney failure, and hyperparathyroidism. Laboratory results revealed a negative urine pregnancy test, euprolactinemia, euthyroidism and negative serum 21-hydroxylase antibody. Serum FSH was markedly elevated. Serum Estradiol, Inhibin-B, and Anti-Mullerian Hormone were below normal limits. Pelvic ultrasonography revealed an endometrial lining of 1.1 cm, with inability to identify bilateral ovaries.

A balanced reciprocal translocation between the long arms of chromosomes 1 and 13 was identified: 46,XX,t(1;13)(q25;q14.1).



Conclusion/Implications: Balanced translocations are associated with a relatively high risk for adverse reproductive history. However, they are not commonly associated with POI. Interestingly, chromosome 13q14.1 is a region encompassing the FOXO1 gene, which plays a significant role in granulosa cell function and follicular maturation. This specific gene break point is most likely the etiology of her POI and possibly her other new-onset co-morbidities. There are no other reported POI cases associated with a balanced translocation between chromosomes 1 and 13 in the literature. Further research is needed on this specific gene break point to understand the timing and mechanism of its effects.

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