Case Report

Short Stature in a 46,XX Male Adolescent

Authors: CHUNG-JUNG WU MD, YUH-MIN SONG MD, WAYNE HUEY-HERNG SHEU MD, PhD

Abstract

ABSTRACT: We describe a patient with a 46,XX karyotype who was assessed because of short stature and a subnormal rate of linear growth. The patient had normal male external genitalia. Endocrinologic analysis revealed elevated levels of luteinizing hormone and folliclestimulating hormone but an exaggerated gonadotropin response to luteinizing hormone-releasing hormone stimulation. The growth hormone response to insulin-induced hypoglycemia was also exaggerated. All sequences examined on the sex-determining region Y gene were present. The diagnosis was 46,XX male with the major manifestation of short stature.

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References