Kaleidoscope Summer 2001
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Vol. 2 Number 2 Summer 2001 The American Association for Klinefelter Syndrome Information and Support Genetic Diagnosis in Adulthood— A Case Report Carl V TylerJr MD; Paul A. Kungl MD; and Laura A. Green PhD Here we come! Cleveland, Ohio (Reprinted with permission) . The 2001 AAKSIS While family physicians may readily entertain genetic diagnoses in their National Conference pediatric patients, they may fail to consider such diagnoses in their Friday, August 3 thru Sunday, August 5 adult patients. We present the case of a man with recurrent leg ulcers at the Philadelphia Airport Marriott Hotel who was recognized as hypogonadal and was ultimately given the di- One Arrivals Road agnosis of Klinefelter’s syndrome (XXV) at age 47. Although there is no Philadelphia, Pennsylvania 19153 primary treatment for XXY, significant associated conditions, including There is still time to reserve a spot at the AAKSIS conference. AAKSIS has planned the most ambitious meeting ever to ad- osteoporosis and testosterone deficiency, can be ameliorated. We re- dress issues relating to Klinefelter Syndrome. Highlights of this view the clinical condition of XXY at various ages and summarize age- year’s meeting include: updates on NIMH’s ongoing brain specific interventions. We discuss the importance of genetic diagnosis studies; medical management of Klinefelter Syndrome; related throughout the life span. health issues for 47XXY adults; medical issues of 47XXY for boys and adolescents; early childhood developmental findings in Key Words. Family practice; genetics; hypogonadism; genetic screening. 47XXY; psychiatric and emotional issues that can be related to (J Fam Pract 1998; 4 7:22 7-230) 47XXY; anger management issues in the adolescent; gynoco- mastia and its treatment…… and much more. Support, discus- With continued progress in clinical genetics, family physicians sion, and networking groups for parents of young children, par- can assist in the recognition and diagnosis of genetic conditions ents of adolescents, adult XXY’s, XXY wives and significant in their patients. At present, the incidence of single gene disor- others, and gay and bisexual adult XXY’s ders at birth is estimated to be 1 in 100; that of chromosomal 1 . disorders is estimated to be 1 in 150. Many adults with genetic (Please note: We also welcome and encourage any and all conditions grew up before their disorder had been characterized, variations of this condition such as XXYY, XXXY, XYY, etc. or before the means to diagnose the condition were developed. to join us at this conference and the AAKSIS organization.) The following case study illustrates the potential benefits and complexities involved in genetic diagnosis in adulthood. ■CASE REPORT In this issue A 47-year-old man was hospitalized with deep venous thrombosis of the left leg 3 weeks after arthroscopic knee sur- !Updated list of conference gery. He had a 10-year history of recurrent venous stasis ulcers. presenters While on hospital rounds, the attending physician observed that the patient had a boyish-looking face with a paucity of facial !Genetic Diagnosis— A Case Report hair, which prompted speculation about possible hypogonadism What family physicians need to know Further evaluation of his eunuchoid facial appearance was about 47XXY/Klinefelter Syndrome performed after hospital discharge. The patient was six feet tall and weighed 270 pounds. He had gynocomastia a penis 2 1/2 !About Philadelphia cm in length, and small testicles measuring 1 cm by 2 cm. Hy- pogonadism was confirmed by laboratory testing, with free tes- !Ginnie Cover Joins the AAKSIS Board tosterone 0.24 nmol/L (5.5-11.5) and total testosterone of 0.52 nmol/L (10.4-30.8). This was clarified as hypergonadotrophic hypogonadism by follicle stimulating hormone (FSH) level of 26.7 rnIU/rnL arid leutenizing hormone (LW) level of 10.3 mIU/ml. Chromosomal karyotype revealed 47,XXY pattern. See page 3 2 KaleidoScope Summer 2001 AAKSIS 2945 West Farwell Ave. NEW YORK Chicago, Illinois 60645-2925 BAYSIDE Contact: Grace Costa AAKSIS is a non-profit, volunteer organi- [email protected] zation dedicated to meeting the need and (718) 357-1817 challenges of the 47XXY/Klinefelter Syn- STATEN ISLAND drome community. Contact: Ron Lochmann Ron [email protected] Directors or Grace Costa Roberta Rappaport, President [email protected] Margaret Garvin, Vice President (718) 357-1817 Michael Schwarz, Treasurer BOSTON AREA Dalene Basden, Minority Outreach NORTHEAST REGIONAL Daniel Becker Contact: Dalene Basden Wendy Becker [email protected] or Virginia Cover Bill Mulkern MaryDavidson, The Genetic Alliance [email protected] Preston Garvin MIDWEST J. Giedd, M.D. ILLINOIS, INDIANA, OHIO, Vaughn Hambley WISCONSIN, IOWA Wolfram E. Nolten, M.D. Contact: Roberta Rappaport Stefan Schwarz [email protected] PHILADELPHIA, PA. Contact: Christine Azzara [email protected] KaleidoScope is a publication of AAKSIS, the (215) 334-6089 American Association for SAN DIEGO AREA Klinefelter Syndrome Contact: Fred Diener Information and Support. bear4u2c@aol. corn Post Office Box 600112 AAKSIS is a non-profit organization dedicated to promot- San Diego, California 92160-0112 ing understanding and awareness of 47XXY/KlinefeIter SOUTHEAST REGIONAL-ATLANTA AREA Syndrome and to the support of individuals and families Contact: Susan Johnson affected by this condition. [email protected] (770) 983-7456 KaleidoScope is published three times a year and is free to members of AAKSIS. Articles in this news- letter may not be reprinted without permission from the editor. Inquiries can be made to: Margaret Garvin, Editor 7109 Stilson Court AAKSIS Announces Newest Board Member Columbus, Ohio 43235 email: [email protected] Virginia Cover, MSW, MBA was recently appointed to the AAK- SIS Board of Directors. Ginnie has been a healthcare administrator for 20 years and currently serves as Executive Director of Mid-Suffolk Pediat- rics, a group practice of 27 pediatricians on Long Island, New York. Active in special education advocacy, Ginnie was recently a member of her school district’s task force to expand inclusion programs in its secondary schools. She is also a volunteer with the newly created Cody Center for Autism and Developmental Disabilities at the State AAKSIS toll free University of New York—Stoney Brook. Currently they are developing hotline a series of continuing education programs in developmental disabilities (888) 466-KSIS (5747) for pediatricians AAKSIS Website Ginnie and her husband, Albert, live on Long Island. They are the www.aaksis.org parents of two sons. Their oldest is a junior at the University of Michi- gan. Their younger son was diagnosed 47XXY prenatally and began receiving early intervention services at 15 months. He is an He is an avid violinist and chess player Summer 2001 KaleidoScope 3 Cont. from page 1 Testosterone replacement was insti- decided to keep his XXY diagnosis from his ex-wife and their tuted with two 2.5 mg transdermal patches, applied nightly. Af- son, but would consider disclosing it if she ever requested an ter 3 months of therapy, the patient noted no significant changes increase in the child support payments. in energy level, strength, mood, or sleep requirements. He did Within the past year he had been involved in another het- note increased libido and increased frequency of erections oc- erosexual relationship. After he developed difficulties in main- curring with sexual fantasy taining erections, the couple ceased the physical aspects of their Because of the XXY diagnosis, bone-mineral density relationship, but maintained their friendship. This occurred prior testing was performed and revealed osteopenia of the fourth to the XXY diagnosis. The patient was hopeful that testosterone lumbar vertebra and of the femoral neck of the left hip. He be- replacement therapy would improve his sexual functioning and gan treatment with calcium 1500 mg daily, vitamin D 400 IU allow a resumption of the sexual relationship. daily, and osteoclast inhibition therapy with alendronate 10 mg During the office visits following diagnostic disclosure, daily. the primary physician was surprised at the calm acceptance the Psychosocial information relevant to the XXY diagnosis patient exhibited toward the diagnosis. He expressed no shame was obtained over subsequent office visits. The patient had been or guilt, but was relieved that medical diagnosis provided an married twice; each marriage lasted less than 1 year. The second explanation for his vague sense of feeling "different” from other marriage ended 17 years ago because of his wife’s drug use and persons. The patient found information about XXY obtained by marital infidelity His second wife bore a son during their mar- his physician from the internet extremely helpful in under- riage. After the divorce she and the child moved out of state and standing his condition. the patient has had infrequent contact with his son. The patient Additional developmental and psychoeducational history had always wondered about the boy’s true paternity but contin- was obtained during a conjoint meeting with the patient and his ued to pay child support. The XXY diagnosis forced him to con- widowed mother. His mother recalled no developmental delays front the issue of the boy’s paternity once again. He ultimately in his speech or motor development. Educational history re- vealed school failure in the seventh grade re- TABLE 1 quiring summer school, followed by erratic performance in subsequent years. However, Recognition, Diagnosis, and Management of XXY he graduated from a technical program in high school with a “B" avenge. At age 18, he failed Recognition, by age Features a military physical examination because of hypogonadism and tall stature.” The examin- Toddler Developmental speech delay ing physician referred him to his family doctor who gave him weekly shots that the patient Grade school Learning disabilities, (problems with immediate understood were for his thyroid, and pills that memory, auditory processing)” he took before each meal for weight loss, Both Attention Deficit Disorder therapies were discontinued after 6 months.