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Klinefelter’s syndrome

Learn about Klinefelter's Syndrome, its diagnosis, complications, and how to live with it. Find out about treatments, medications, and support resources.

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Klinefelter’s syndrome

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  1. Klinefelter’s syndrome Nayri Hatsakorzian Pharm.D. Candidate 2014 Touro University, CA

  2. Table of Content • What is Klinefelter’s? • Prevalence • Diagnosis • Complications • Treatment & Medications • Living with Klinefelter’s • References

  3. What is Klinefelter? • Congenital abnormality disease causing primary hypogonadism • Male with one extra X chromosome (47, XXY) • Genotype differentiation during meiotic division d/t nondisjunction of sex chromosomes of either parent • Phenotypic consequences are both gonadal and extragonadal • Very common, occurs in 1 in 500 live male births, but many have no symptoms • Diagnosis • Amniocentesis or Chorionic villus sampling • Adolescence when excessive breast development occur • Adulthood during testing for fertility • Diagnosis is confirmed by karyotype of peripheral leukocytes.

  4. Complications • Language problems • Children with 47,XXY might need extra help in school • Language problems can range from mild to very severe • Physical development during adolescence • Puberty with 47,XXY boys might start normally with no delays, but they seize to keep up with the gradual increase in testes size and testosterone production • Less muscular body, less facial and body hair, broader hips, gynecomastia • Adulthood problems (most don’t look different than XY males) • Autoimmune disorders (T1DM, thyroiditis, lupus) breast cancer, osteoporosis • Infertility d/t little or no sperm production despite of normal sex life

  5. Treatment & Medications • Testosterone (gel, patch, IM injection) • Increase muscle strength and size • Promote growth of facial and body hair • Increase self confidence, energy levels, and mood stability • Upon initiation, monitor with CBC within the first two months, then every 6-12 months if stable • Erythrocytosis • Benign Prostatic Hyperplasia • Sleep apnea worsening • Skin irritation • Secondary exposure

  6. Living with Klinefelter’s • Psychological counseling to overcome depression • Seek help from • The American Speech Language and Hearing Association • The Federation for Children with Special Need • Learning Disabilities Association of America • The National Information Center for Children and Youth with Disabilities

  7. References • Clinical Pharmacology. Testosterone cypionate. Jan 2012 http://0-www.clinicalpharmacology-ip.com.library.touro.edu/ • Congenital Abnormatilies: Klinefelter’s syndrome. UpToDate. Sept 2012. http://0-www.uptodate.com.library.touro.edu/contents/causes-of-primary-hypogonadism-in-males • Understanding Klinefelter Syndrome: A Guide for XXY Males and Their Families. National Institute of Health. Aug 2006. http://www.nichd.nih.gov/publications/pubs/klinefelter.cfm#xcauses

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