Frasier syndrome

Abstract

Objective: To present the case of a 17-year-old girl with primary amenorrhea and a history of hypertension since age 13 years.

Methods: The patient's clinical, laboratory, and radiologic data were summarized, and features of Frasier syndrome and Drash syndrome were compared.

Results: The patient's weight was 126 kg, height was 185 cm, and blood pressure was 150/100 mm Hg. She had minimal breast budding and scant pubic hair. Laboratory data were compatible with hypergonadotropic hypogonadism. An ultrasound study of the pelvis revealed an infantile uterus and a questionable right gonad. The patient also had nephrotic-range proteinuria in conjunction with decreased creatinine clearance and normal findings on ultrasonography of the kidneys. A karyotype photomicrograph showed a male 46,XY chromosomal pattern. Although the patient's chronologic age was 17 years, her bone age was 12 1/2 years.

Conclusion: The patient was diagnosed as having Frasier syndrome. She underwent removal of a left-sided ovary and a right adnexal mass, and her condition is well controlled with lisinopril (10 mg daily) and estrogen therapy.