Frasier syndrome.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
L N MerkleE Lee

Abstract

To present the case of a 17-year-old girl with primary amenorrhea and a history of hypertension since age 13 years. The patient's clinical, laboratory, and radiologic data were summarized, and features of Frasier syndrome and Drash syndrome were compared. 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. 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.

References

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Citations

Jul 5, 2013·Public Understanding of Science·Steven Hrotic

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