ESPE Abstracts

Introduction: Marfan syndrome is an autosomal dominant disorder due to a mutation of the FBN1 gene of chromosome 15 that produces fibrillin, a connective tissue protein. Tall stature can be of a major concern especially in a girl patient. Here we discuss a case of a 13-year-old girl with MFS with tall stature and multiple associated comorbidities that pose challenges in her management for the whole family.

Case Report: A 13-year-old girl, a known case of MFS from a family of MFS with her mother and younger 8 years old sister also been affected. She also had multiple associated cardiac comorbidities: mitral Valve prolapse, aortic root dilatation with premature ventricular contraction, myopia, scoliosis, and severe pectus excavatum, referred to endocrine for a delayed puberty and tall stature. On a previous assessment, the patient was treated by a relatively high 0.625 mg conjugated estrogen daily dose for 7 months that did not slow down her growth velocity, neither, resulted in breast development. A high dose of 1.25 mg once daily was then tried that resulted in a withdrawal bleeding alongside alternate doses of 10 mg PO progesterone, On examination her height was 178 cm (> 97th centile). She had severe chest deformity and prepubertal Tanner staging of breast development. Bone age assessment had shown appropriate skeletal maturation. Her mother, as well as younger sister, both had normal progress of puberty and breasts development. Mother attained menarche at 13 years of age.

Discussion: Patients with MFS present with tall stature, cardiovascular, ocular and other systemic findings. Delayed puberty is not a common encounter in MFs. After an initial assessment of our patient, the possibilities were true versus peripheral delayed puberty. GNRH Stimulation test confirmed central puberty. It is possible that the patient has estrogen resistance giving a history of failure of response to high doses of estrogen in terms of breast development and vaginal bleeding as well as continuing to grow. We also thought of amastia, a rare anatomical abnormality with absent breasts.

Conclusion: A major concern of stopping further height gain can be challenged by a superadded problem of possible estrogen resistance. In the same time, using high doses of estrogen may risk clinical outcome in MFS with cardiac complications awaiting surgery.