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Clinical Pediatrics
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Discordant Puberty in Monozygotic Twin Sisters with Neurofibromatosis Type 1 (NFl)

Thaddeus E. Kelly, MD, PhD

Division of Medical Genetics, University of Virginia School of Medicine, Charlottesville and Staunton, Virginia; Division of Medical Genetics, Box 386, Health Sciences Center, Charlottesville, VA 22908

George T. Sproul, MD

Division of Blue Ridge Pediatrics, University of Virginia School of Medicine, Charlottesville and Staunton, Virginia

Milagros G. Huerta, MD

Alan D. Rogol, MD, PhD

Division of Pediatric Endocrinology, University of Virginia School of Medicine, Charlottesville and Staunton, Virginia

Monozygotic twin sisters are reported who have discordant pubertal growth and sexual development. Although both sisters were physiologically appropriate for chronological age in their pubertal development, their adolescent development was considerably different from that expected of monozygotic twin sisters. The more pubertally advanced sister by magnetic resonance imaging had an optic pathway glioma while none was present in her twin sister. Precocious puberty is not an unexpected complication of neurofibromatosis type 1 and is always associated with the presence of an optic pathway glioma. These sisters emphasize the striking similarity that is expected of monozygotic twins and the need for investigation when intertwin differences in growth and/or development arise.

Clinical Pediatrics, Vol. 37, No. 5, 301-304 (1998)
DOI: 10.1177/000992289803700504
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