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Jacobs syndrome

XYY syndrome is a aneuploidy of the sex chromosomes in which a human male receives an extra Y chromosome in each cell, hence having a karyotype of 47,XYY. XYY syndrome is also called Jacob's Syndrome, XYY-trisomy, 47,XYY aneuploidy, or Supermale syndrome. more...

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First case

The first published report of a man with a 47,XYY chromosome constitution was by Dr. Avery A. Sandberg, et al. of Buffalo, New York in 1961. It was an incidental finding in a normal 44-year-old, 6 ft. tall man of average intelligence.

Effects

Physical traits

XYY syndrome typically causes no unusual physical features or medical problems. Males with this syndrome may be slightly taller than average and are typically a few centimeters taller than their father and siblings.

Skeletal malformations may also accompany XYY syndrome at a higher rate than in the general population. Severe facial acne has occasionally been reported, but dermatologists specializing in acne (Plewig & Kligman, 2000) now doubt the existence of a relationship with XYY. Several other physical characteristics, including large hands and feet, have been associated (although not definitively) with XYY syndrome. Any physical characteristics, however, are usually so slight that they are insufficient evidence to suggest a diagnosis.

Most males with XYY syndrome have normal sexual development and are able to conceive children.

Since there are no distinct physical characteristics, the condition usually is only detected during genetic analysis for other reasons.

Behavioral characteristics

XYY boys have an increased risk of minor speech and motor skill delays and learning disabilities with roughly half requiring some special education intervention. Behavior problems are common but are not unique to XYY boys and managed no differently than XY boys.

Cause and prevalence

XYY syndrome is not inherited, but usually occurs as a random event during the formation of sperm cells. An error in cell division called nondisjunction can result in sperm cells with an extra copy of the Y chromosome. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra Y chromosome in each of the body's cells. In some cases, the addition of an extra Y chromosome occurs as an accident during cell division in early fetal development.

The incidence of this condition is approximately one in 850 males.

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What medications are effective for treating symptoms of premenstrual syndrome ? - PMS - Clinical inquiries: from the family practice inquiries network
From Journal of Family Practice, 10/1/02 by Jan P. Vleck

EVIDENCE-BASED ANSWER Vitamin B6 (50-100 mg/d) and elemental calcium (1200 mg/d) are safe, inexpensive, and moderately effective (Table) (grade of recommendation: B). Selective serotonin reuptake inhibitors (SSRIs) and some other antidepressants are more effective, but are also more costly and more likely to cause side effects or treatment dropout (grade of recommendation: A). Antidepressant dosing only during the luteal phase may be effective and more tolerable (grade of recommendation: B). Alprazolam (generally 0.25-0.5 mg 3 times a day during luteal phase) may be effective for treating mood or anxiety symptoms (grade of recommendation: B). Hormonal therapies (oral contraceptives, gonadotropin-releasing hormone agonists, danazol, estrogen) lack convincing evidence of efficacy and cause many side effects; progesterone is no more beneficial than placebo (grade of recommendation: B). There is no convincing evidence of benefit from diuretics, magnesium, beta-blockers, or lithium (grade of recommendation: C).

EVIDENCE SUMMARY Pooled results of 9, generally poor-quality studies of Vitamin B6 show some benefit. (1) Doses higher than 100 mg/d may cause peripheral neuropathy. Three small studies in the 1980s suggested possible benefit of Vitamin E; however, these studies have not been further replicated. One well-designed, randomized controlled trial of calcium therapy showed > 50% decrease in symptom complex scores after 3 months in more than half of subjects taking 1200 mg/d supplemental elemental calcium (NNT=6). (2)

Among SSRIs, fluoxetine (20 mg/d) is well-studied and effective. (3) Other SSRIs, including sertraline, paroxetine, fluvoxamine, and venlafaxine, and clomipramine (a tricyclic with serotonin reuptake inhibitor activity), also show benefit but are less well studied. Luteal phase-only dosing may be equally or more effective than continuous dosing for some SSRIs. Benzodiazepines have shown mixed results in treating PMS, and overall their benefit appears smaller than that of SSRIs. (4) Luteal phase-only dosing theoretically reduces the risk of benzodiazepine withdrawal or dependence, but published data are rare.

Gonadotropin-releasing hormone agonists may be effective, but troublesome anti-estrogenic side effects limit their utility. Estrogen and progesterone "add-back" therapy to counter side effects further complicates this approach. The gonadotropin inhibitor danazol has a high treatment dropout rate at higher doses (200-400 mg/d continuously), but can be effective in individuals who are able to tolerate it (3,5); however, danazol is expensive and causes significant androgenic side effects. Lower-dose danazol (200 mg/d luteal phase only) is better tolerated but ineffective. (6) A meta-analysis of progesterone found no evidence to support its efficacy. (7) Oral contraceptives are ineffective for global symptoms, and may actually cause PMS symptoms in some women.

RECOMMENDATIONS FROM OTHERS The American College of Obstetricians and Gynecologists recommend that patients with mild to moderate PMS should receive supportive, lifestyle, and dietary interventions. For severe PMS, SSRIs are the initial drag of choice. Alprazolam may be useful when these interventions are ineffective. Consider oral contraceptives for primarily physical symptoms and reserve gonadotropin-releasing hormone for severe cases unresponsive to other treatments. (8)

REFERENCES

(1.) Wyatt KM, Dimmock PW, Jones PW, Shaughn O'Brien PM. BMJ 1999; 318:1375-81.

(2.) Thys-Jacobs S, Starkey P, Bernstein D, Tian J. Am J Obstet Gynecol 1998; 179:444-52

(3.) Wyatt K. Clinical Evidence 2002; 7:1739-57

(4.) Freeman EW, Rickels K, Sondheimer SJ, Polansky M. JAMA 1995; 274:51-7.

(5.) Watts JF, Butt WR, Logan Edwards R. Br J Obstet Gynaecol 1987;94:30-4.

(6.) O'Brien PM, Abukhalil IE. Am J Obstet Gynecol 1999; 180:18-23.

(7.) Wyatt K, Dimmock P, Jones P, Obhrai M, O'Brien S. BMJ 2001; 323:776-80.

(8.) ACOG Premenstrual Syndrome. ACOG Practice Bulletin No. 15 Washington, DC: ACOG; April 2000.

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COPYRIGHT 2002 Dowden Health Media, Inc.
COPYRIGHT 2002 Gale Group

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