Complete androgen insensitivity syndrome in a young woman with metabolic disorder and diabetes: A case report

摘要

Rationale: Androgen insensitivity syndrome (CAIS) is a rare X-linked recessive androgen receptor disorder characterized by complete resistance to the actions of androgen in an individual with 46,XY karyotype. Metabolic disorder and diabetes has been rarely reported in these patients. Patient concerns: A 22-year-old female patient was admitted to our center for the evaluation of high blood sugar. The central obesity, lipid dysfunction, and diabetes were found in the patient. The patient also presented as primary amenorrhea and poor secondary sex characteristics after puberty. Diagnoses: The diagnosis of CAIS in this patient was established by infantile female genitalia, absence of ovary and uterus, history of gonadectomy, 46,XY karyotype, and carried a mutation c.2751C>G (p.917F > L) in androgen receptor gene. Intervention: The patient was treated by insulin, metformin, statins and estrogen. Outcomes: After 6 months follow-up, blood sugar and lipid profiles were normal, but breast development and weight loss were not obvious. Lessons: We report a case of CAIS in a 22-year-old female accompanying central obesity, dyslipidemia, and diabetes mellitus. It is extremely important to recognize special type diabetes among the young-onset diabetic patients, and this case will provide further evidence of a link between impaired androgen receptor signaling and metabolic regulation.