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Klinefelter's Syndrome with XY/XXY Mosaic

Klinefelter Syndrome Xy/xxy Mosaic


Presentation

  • It is the most common presentation.[urologyannals.com]
  • A case of KFS with post acne scars and leg ulcers is presented, who responded well to testosterone replacement therapy with complete healing of the leg ulcers. The rarity of acne in this syndrome is explained by the phenomenon of mosaicism.[e-ijd.org]
  • True hermaphroditism with characteristics of Klinefelter’s syndrome: a rare presentation. J Pediatr Endocrinol Metab. 2005;18(6):603–6. CrossRef PubMed 20.[springermedizin.de]
  • The results of initial spermograms presented in Table 1.[endocrine-abstracts.org]
Tall Stature
  • Patients tend to have long legs and a slim, tall stature. Gynecomastia is present in many of the patients. The classic form has the karyotype 47,xxy.[icd10data.com]
  • Men may have a small penis and testicles, enlarged breast tissue, low bone density, fatigue, quiet character and tall stature with long legs, short torso and broad hips.[news-medical.net]
  • Symptoms Males who have Klinefelter syndrome may have the following symptoms: small, firm testes, a small penis, sparse pubic, armpit and facial hair, enlarged breasts (called gynecomastia), tall stature, and abnormal body proportions (long legs, short[web-books.com]
  • Characteristic findings on physical examination Physical examination may show decreased facial hair, gynecomastia, decreased pubic hair, and tall stature. Although a small penis may occur in some individuals, the penis is usually normal.[dermatologyadvisor.com]
Male Hypogonadism
  • Such individuals would manifest acne and also would be able to father children following successful sperm retrieval. [1] Treatment with androgens reduces gynecomastia and evidence of male hypogonadism and increases strength and libido in all variants.[e-ijd.org]
  • Treatment Treatment with androgens reduces gynecomastia and evidence of male hypogonadism and increases strength and libido in patients with all variants of Klinefelter syndrome.[britannica.com]
  • Klinefelter’s syndrome is the most common cause of male hypogonadism, a condition where men are unable to produce sperm or enough of the male hormone, testosterone, for the body’s needs.[andrologyaustralia.org]
  • A form of male hypogonadism, characterized by the presence of an extra x chromosome, small testes, seminiferous tubule dysgenesis, elevated levels of gonadotropins, low serum testosterone, underdeveloped secondary sex characteristics, and male infertility[icd10data.com]
Accelerated Growth
  • Most symptoms are first seen at puberty when androgen deficiency becomes evident as testes begin to shrink and harden, gynecomastia develops, and accelerated growth is observed.[helicase.pbworks.com]
Lower Abdominal Pain
Abdominal Cramps
  • The episodes of hematuria occurred monthly for a duration of 3–4 days since 6 months, which were always preceded by lower abdominal cramps.[urologyannals.com]
Palpitations
  • He subsequently stopped all treatment on his own as he complained of breathlessness and palpitations following injections and remains lesion free 2 months later [Figure 6] .[e-ijd.org]
Long Leg
  • The main clinical signs of the condition include: Infertilty Small, firm testes Hypogonadism Gynecomastia Tall, slender body with long legs and short torso.[dontcookyourballs.com]
  • Signs and Symptoms of Klinefelter's Syndrome Male phenotype Before puberty, small testes and disproportionately long legs are present. The verbal IQ might be reduced.[urology-textbook.com]
  • Patients tend to have long legs and a slim, tall stature. Gynecomastia is present in many of the patients. The classic form has the karyotype 47,xxy.[icd10data.com]
  • Men may have a small penis and testicles, enlarged breast tissue, low bone density, fatigue, quiet character and tall stature with long legs, short torso and broad hips.[news-medical.net]
  • Symptoms Men with Klinefelter syndrome have small, firm testes , and they often have breast enlargement ( gynecomastia ) and inordinately long legs and arms (eunuchoidism) and are infertile.[britannica.com]
Long Arm
  • This is Klinefelter's syndrome, which is characterized by a sexually underdeveloped boy who has rudimentary testes and prostate glands, often no pubic or facial hair, long arms, and in some instances will develop breast tissue.[indiana.edu]
  • arms and legs), broad hips, poor muscle tone and slower than usual muscle growth, reduced facial and body hair that starts growing later than usual, a small penis and testicles, enlarged breasts (gynaecomastia) in adulthood – inability to have children[nhs.uk]
  • A tall, thin body with disproportionately long arms and legs. Obesity - this may cause a thicker waistline but it is often partially disguised by wider-than-normal hips.[patient.info]
  • Dauwerse JG, Hansson KB, Brouwers AA, Peters DJ, Breuning MH: An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16.[karger.com]
  • In a study of 80 females with Turner’s syndrome (45,X), Skuse and colleagues 15 demonstrated that the presence of an imprinted locus on the long arm of the X chromosome plays a role in cognitive and social development.[glowm.com]

Workup

  • Meticulous workup combined interdisciplinary approach will lead to early diagnosis and resolve timely sex reassignment issues and also prevent consequences arising due to gonadal insufficiency.[urologyannals.com]
  • In fact, men may be first diagnosed when they are in their 20s, 30s, or older, when an infertility workup discovers the syndrome. For men who have signs and symptoms, these often develop during puberty when the testes do not develop as they should.[verywell.com]

Treatment

  • 16 The Medical Management of Disorders of Sex Development 158 17 Surgical Treatment in Infancy 173 18 Laparoscopy for DSD 183 19 The Family 192 20 Genetic Counselling 203 21 Cultural Differences and Controversies About Timing of Management 215 22 Medical[books.google.com]
  • He subsequently stopped all treatment on his own as he complained of breathlessness and palpitations following injections and remains lesion free 2 months later [Figure 6] .[e-ijd.org]
  • Some XXY males can also benefit from fertility treatment to help them father children. One of the most important factors for all types of treatment is starting it as early in life as possible.[web-books.com]
  • There is no cure, but treatments are available. It is important to start treatment as early as possible. With treatment, most boys grow up to have normal lives. Treatments include testosterone replacement therapy and breast reduction surgery.[icdlist.com]

Prognosis

  • The effects of testosterone as evidenced by of acne scars, nocturnal emissions, would point to the presence of mosaicism in our patient and is can help in predicting prognosis and the ability to father children.[e-ijd.org]
  • Presentation and prognosis are quite variable In 1942, Dr.[en.wikibooks.org]
  • What is the outlook (prognosis) for Klinefelter's syndrome (KS)? Sometimes boys with KS may struggle through adolescence.[patient.info]
  • Prognosis While many men with Klinefelter syndrome go on to live normal lives, nearly 100% of these men will be sterile (unable to produce a child).[encyclopedia.com]

Etiology

  • Low levels of testosterone are associated with elevated levels of plasminogen activator inhibitor (PAI)-1. [1] Lower limb ulcers are frequently observed and the etiology is thought to be multifactorial including chronic venous insufficiency, obesity,[e-ijd.org]
  • Synonyms: XXY syndrome, 47, XXY males, Epidemiology of Klinefelter's Syndrome 1:1000 Causes (Etiology) and Pathology of Klinefelter's Syndrome The karyotype of Klinefelter's syndrome is 47, XXY. Also possible karyotypes are 46 XY/47, XXY mosaic.[urology-textbook.com]
  • A secondary etiology of this syndrome is an error of parental gametogenesis, when a sperm or egg carries an extra X chromosome with the normal single-sex chromosome. Occasionally, variations of the XXY abnormality may occur.[uspharmacist.com]
  • Klinefelter syndrome is a common cause for mental retardation of unknown etiology among prepubertal males. Clin Genet . 2002;61:49–53. 9. Shen D, Liu D, Liu H, Clasen L, Giedd J, Davatzikos C.[aafp.org]

Epidemiology

  • Synonyms: XXY syndrome, 47, XXY males, Epidemiology of Klinefelter's Syndrome 1:1000 Causes (Etiology) and Pathology of Klinefelter's Syndrome The karyotype of Klinefelter's syndrome is 47, XXY. Also possible karyotypes are 46 XY/47, XXY mosaic.[urology-textbook.com]
  • Epidemiology Klinefelter syndrome is estimated to affect approximately 1 in 500 male babies and is, therefore, one of the most common chromosomal variations.[news-medical.net]
  • [xviii] Sasco, Annie J. et al: Review article: Epidemiology of male breast cancer.[klinefelter.org.uk]
  • Epidemiology Approximately one in 1,000 boys is born with an additional X chromosome—47,XXY, the karyotype that causes Klinefelter syndrome. 1 This karyotype is detected at or before birth in 10 percent of affected boys, and it is found during adulthood[aafp.org]
  • This chapter reviews various aspects of Klinefelter syndrome, including epidemiology, cytogenetics, molecular genetics, clinical manifestations, and management.[glowm.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology The effect of the extra X chromosome on embryonic differentiation and suppression of testosterone production remains unknown.[dermatologyadvisor.com]
  • Since then, however, developments in microsurgical techniques and advances in artificial reproductive technologies (ART) have enabled over 50% of men with Klinefelter syndrome to sire their own children. [4, 5 , 6, 7 , 8] Pathophysiology The X chromosome[emedicine.medscape.com]

Prevention

  • Meticulous workup combined interdisciplinary approach will lead to early diagnosis and resolve timely sex reassignment issues and also prevent consequences arising due to gonadal insufficiency.[urologyannals.com]
  • It also prevents the testicles from producing normal amounts of sperm and the hormone testosterone . Testosterone affects the way a boy develops both physically and sexually.[m.kidshealth.org]
  • Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. ‎ Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. ‎[books.google.es]
  • Helps prevent osteoporosis May prevent or shrink enlarged breasts. Provides better self-esteem by allowing the boy to "fit in" with his peers. This can result in more successful interpersonal relationships.[helicase.pbworks.com]
  • Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections.[livingnaturallyonline.com]

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