Ethinyl Estradiol Treatment for Growth Limitation in Girls with Marfan's Syndrome—Experience from a Single Center

Abstract

Objectives. Tall stature, a major characteristic of Marfan's syndrome, may be of concern to the family, particularly if the patient is a girl. Experience with treatment options—sex steroid or somatostatin analogue—for height reduction in girls is limited. We have evaluated our experience of estrogen treatment in girls with Marfan's syndrome attending the pediatric endocrine clinic in Glasgow between 1989 and 2005. Design and methods. Retrospective case note analysis combined with ascertainment of final/near final height, comparing outcome in treated and untreated girls. Cardiovascular health was assessed by examining aortic root diameter and blood pressure. Results. The study cohort comprised four treated and five untreated girls, of whom three were sisters. Treatment was started in the four girls at chronological age 10.0 (2.1) years, mean (SD) height 155.0 (9.8) cm, and Tanner breast stage B1 in three and B2 in one. Ethinyl estradiol was administered in stepwise incremental regimens, starting at 10 μg/day and reaching 100 μg/day after 10 weeks in two girls and starting at 2 μg/day and reaching a maximum of 30–50 μg/day over a 2- to 3-year period in two girls. Mean ± SD (range) final/near final height of the four treated girls was 174.3 (2.6) (170.6–176.6) cm compared with 183.0 (6.9) (171.5–190.3) cm in the five untreated girls. No deaths occurred in the treated group while one untreated girl died from presumed arrhythmia aged 18 years. Aortic root diameter increased with age, by mean (SD) 5.0 (2.1) and 5.8 (4.5) mm in treated and untreated groups, respectively, but with no between-group differences after treatment. Conclusions. The estrogen doses used in this study are lower than in previous reports. The results, although unsuitable for statistical analysis due to small numbers, are encouraging with no adverse events being recorded. Future research should be multicenter in design.

Keywords:

• Marfan's Syndrome
• Tall Stature
• Ethinyl Estradiol
• Height Reduction
• Aortic Root

ACKNOWLEDGMENTS

This study was carried out in Royal Hospital for Sick Children, Glasgow in Scotland, in accordance with the European Society of Pediatric Endocrinology (ESPE) Clinical Fellowship Programme. The authors thank Emma Jane Gault and Catherine Milmore for their help and support in preparing this manuscript. They are also indebted to Dr. Alan Houston, Consultant Cardiologist, Royal Hospital for Sick Children, Glasgow, for his help in reviewing the cardiovascular surveillance data.

Dr. Sema Kalkan had primary responsibility for collection and analysis of the data and for writing the manuscript. Ms. Wendy Paterson assisted with analysis of the data and contributed to the writing of the manuscript. Dr. David Young carried out the statistical analysis of the study. Dr. Malcolm Donaldson supervised the design and execution of the study and contributed to the writing of the manuscript.

DECLARATION OF INTEREST

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.