Klinefelter Syndrome Questions & Answers

Updated: Feb 25, 2018
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Questions & Answers

Overview

What is Klinefelter syndrome and when was it discovered?

How is Klinefelter syndrome diagnosed?

How is Klinefelter syndrome managed?

What is the pathophysiology of Klinefelter syndrome?

What are the effects of androgen deficiency in Klinefelter syndrome?

Which conditions co-occur with Klinefelter syndrome?

What lab findings are associated with Klinefelter syndrome?

How does Klinefelter syndrome affect quality of life?

How common is Klinefelter syndrome in the US?

What is the mortality and morbidity of Klinefelter syndrome?

What is the racial predilection of Klinefelter syndrome?

Is Klinefelter syndrome more common in males or females?

At what age is Klinefelter syndrome usually diagnosed?

Presentation

What is the clinical history in patients with Klinefelter syndrome?

What are the motor, cognitive, and behavioral dysfunctions in Klinefelter syndrome?

Which types of tumors and cancers are associated with Klinefelter syndrome?

Which vascular diseases are associated with Klinefelter syndrome?

Which endocrine/metabolic and autoimmune diseases are associated with Klinefelter syndrome?

How does Klinefelter syndrome affect growth patterns?

What are the cognitive features of Klinefelter syndrome?

What dental findings are associated with Klinefelter syndrome?

What are the sexual characteristics in Klinefelter syndrome?

Which cardiac and circulatory problems are associated with Klinefelter syndrome?

What are the genetic variants of Klinefelter syndrome?

What causes Klinefelter syndrome?

What is the role of the androgen receptor (AR) gene in the development of Klinefelter syndrome?

What is the karyotype for Klinefelter syndrome?

DDX

Which patient characteristics are indications for a chromosome analysis in Klinefelter syndrome?

What are the diagnostic considerations in Klinefelter syndrome?

What are the differential diagnoses for Klinefelter Syndrome?

Workup

What are the diagnostic prenatal tests for Klinefelter syndrome?

What are the age-related signs of Klinefelter syndrome which prompt diagnostic testing?

What are the diagnostic postnatal tests for Klinefelter syndrome?

What is the role of androgen receptor gene quantitative real-time polymerase chain reaction (AR-qPCR) technique in the workup of Klinefelter syndrome?

What is the role of pituitary-gonadal function studies in the workup of Klinefelter syndrome?

Which hormone studies are indicated in the workup of Klinefelter syndrome?

What is the role of bone density screening in the workup of Klinefelter syndrome?

What is the role of hypercoagulability screening in the workup of Klinefelter syndrome?

Which imaging studies are indicated in the workup of Klinefelter syndrome?

What are the histologic findings in Klinefelter syndrome?

Treatment

What is the focus of the management of Klinefelter syndrome?

What is the role of androgen replacement therapy in the treatment of Klinefelter syndrome?

How effective is early hormonal therapy for the treatment of Klinefelter syndrome?

What is the role of psychosocial intervention in the management of Klinefelter syndrome?

What is the role of physical and occupational therapy in the management of Klinefelter syndrome?

How is infertility treated in patients with Klinefelter syndrome?

What is the role of genetic counseling in the management of Klinefelter syndrome?

What is the role of reproductive genetic counseling in the management of Klinefelter syndrome?

What are the surgical interventions for the treatment of Klinefelter syndrome?

Which specialist consultations are indicated in the treatment of Klinefelter syndrome?

What are the dietary recommendations for patients with Klinefelter syndrome?

What are the activity recommendations for patients with Klinefelter syndrome?

Medications

Which medications are indicated in the treatment of Klinefelter syndrome?

Which medications in the drug class Androgen are used in the treatment of Klinefelter Syndrome?

Follow-up

What is included in the outpatient care of Klinefelter syndrome?

Is inpatient care indicated in Klinefelter syndrome?

What are the maintenance medications for Klinefelter syndrome?

What are the complications of Klinefelter syndrome?

What is the prognosis of Klinefelter syndrome?

What patient education resources are available for Klinefelter syndrome?