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Premature Thelarche and the PURA Syndrome
Joshua Rezkalla1, Tiffany Von Wald, Keith A Hansen
1Department of Obstetrics & Gynecology, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota.
Background:
Premature thelarche is a self-limited condition characterized by Tanner stage II-III breast development in girls younger than 8 years of age with no evidence of advancing puberty. Evaluation concentrates on excluding central or peripheral causes of precocious puberty.
Case:
A girl aged 2 years 4 months with profound hypotonia and delayed developmental milestones presented with Tanner II breast development, elevated follicle-stimulating hormone levels, suppressed luteinizing hormone level, normal growth and skeletal development, and prepubertal uterine length and ovarian volume. Monitoring until 8 years of age revealed no pubertal progression. Whole exome sequencing at 8 years revealed an autosomal-dominant mutation in the purine-rich element-binding protein A (PURA) gene. Previous patients with PURA syndrome have had pituitary dysfunction and precocious puberty.
Conclusion:
Purine-rich element-binding protein A syndrome can be associated with premature thelarche.
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