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.
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.
Purine-rich element-binding protein A syndrome can be associated with premature thelarche.
Premature thelarche is a self-limited condition that must be differentiated from and monitored for progression to central precocious puberty.
Department of Obstetrics & Gynecology, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota.
Corresponding author: Keith A. Hansen, MD, Health Science Center, 1400 West 22nd Street, Sioux Falls, SD 57105; email: Keith.Hansen@usd.edu.
Supported by Sanford Health Fertility and Reproductive Medicine, Sioux Falls, South Dakota.
Financial Disclosure The authors did not report any potential conflicts of interest.
Each author has indicated that he or she has met the journal's requirements for authorship.