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/ 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#xc auses http://www.nichd.nih.gov/publications/pubs/klinefelter.cfm#xc auses