Category: Reproductive Endocrinology

Monitor: 10

10 - A CASE OF KLINEFELTER SYNDROME: SEPARATING SIGNAL FROM THE NOISE

Saturday, Apr 27
10:30 AM – 11:00 AM

Objective : To describe a case of Klinefelter syndrome in a patient found to have hyperprolactinemia and a pituitary incidentaloma.


Methods :

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Results :

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Discussion : We present a 25-year-old male with a history of psychotic disorder who presented to a psychiatric hospital after an attempted overdose and was found to have features consistent with pubertal failure. Initial workup revealed hyperprolactinemia and a subsequent pituitary MRI showed a pituitary microadenoma. The endocrinology service was consulted and, given the patient’s eunuchoid body habitus and small testes, further lab testing was obtained which showed low free and total testosterone and elevated FSH and LH, consistent with primary hypogonadism. Karyotyping revealed 47, XXY consistent with Klinefelter syndrome. The patient was started on testosterone therapy and continues to follow in endocrinology clinic. His hyperprolactinemia is felt to be secondary to his longstanding paliperidone use for his psychiatric disorder, and the pituitary microadenoma will be monitored with serial MRI.


Conclusion : In this case, the diagnosis of Klinefelter syndrome was complicated by a pituitary incidentaloma and hyperprolactinemia likely secondary to anti-psychotic use. It is important to take both history and physical exam findings into consideration prior to ordering imaging studies as pituitary incidentalomas are common. In our patient’s case, MRI could have been avoided had biochemical testing to evaluate hypogonadism been initiated first.

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Jennifer S. Turner

Chief Resident, Department of Internal Medicine
West Virginia University
Morgantown, West Virginia

Jennifer Turner, M.D. is Chief Resident of the Department of Medicine at West Virginia University School of Medicine. Dr. Turner finished residency in Internal Medicine at WVU in 2018 and is currently serving as one of the Chief Residents of Medicine for the 2018-2019 academic year. She will be starting Endocrinology Fellowship at WVU in July 2019.

Adnan Haider

Assistant professor
West Virginia University

Assistant Professor at WVU.

Nadia Barghouthi

Endocrinology Fellow
West Virginia University

Currently an Endocrinology fellow at WVU

Jennifer S. Turner

Chief Resident, Department of Internal Medicine
West Virginia University
Morgantown, West Virginia

Jennifer Turner, M.D. is Chief Resident of the Department of Medicine at West Virginia University School of Medicine. Dr. Turner finished residency in Internal Medicine at WVU in 2018 and is currently serving as one of the Chief Residents of Medicine for the 2018-2019 academic year. She will be starting Endocrinology Fellowship at WVU in July 2019.