Klinefelter Syndrome

Klinefelter Syndrome

Klinefelter syndrome is characterized by small, firm testes, azoospermia (no sperm count), gynecomastia, in men with two or more X chromosomes. The common karyotype is 47,XXY . They have elevated levels of plasma gonadotropins. They have male psychosexual orientation and function sexually as normal men.

It is the most frequent major abnormality of sexual differentiation. This condition exists in roughly 1 out of 1000 males.  1 in 500 males have an extra chromosome but may not have the syndrome.

The syndrome was named after Dr. Harry Klinefelter, who worked with Fuller Albright and first described it in the year 1942.

The principal effects are development of small testicles and reduced fertility. 

  • Before puberty the testes appear normal but are small.
  • Gynecomastia (enlargement of breasts ) develops during adolescence, is generally bilateral and painless.
  • Mean body weight is increased due to longer legs.
  • Obesity and varicose veins occur in one-third to one-half.
  • Mild mental deficiency, social maladjustment.
  • Abnormal of thyroid functions, diabetes mellitus, and pulmonary disease may be present.
  • The risk of breast cancer is 20 times that of normal men (but only about a fifth that in women)

Treatment : Gynecomastia may need surgical treatment. Testosterone injections are needed.

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This entry was posted in Diseases & Conditions, Genetics and tagged by Manbir & Gurpreet. Bookmark the permalink.

About Manbir & Gurpreet

Gurpreet Kaur’s journey in this world .... Gurpreet Kaur was a Musician. She was a singer and a composer of music. Her interest was composing and singing Gurbani Shabads in Indian Classical style. She sang Shabads in All the Raags mentioned in Sri Guru Granth Sahib Ji. She also taught Gurmat Sangeet at Gurmat Gian Missionary College, Jawadi, Ludhiana. Elder child to Pushpinder Kaur and Dr. Brig. Harminder Singh, was born in Amritsar on 13th Jan 1962. She attended various convent schools as a child because her father would get frequent Army postings as a dental surgeon. She graduated with Music Honors from Govt. College for Women, Chandigarh. Music was her hobby and she composed and sang Raag based Gurbani Shabads. Doing Kirtan was part of growing up nurtured by her parents. She learned music from her father Dr. Brigadier Harminder Singh who was a dental surgeon in Indian Army and a very good singer himself. Gurpreet’s Bhua (father’s sister), Ajit Kaur retied as a Head of Department of Music from Govt. College for Women Ludhiana, and was a renounced Punjabi singer of her time. Gurpreet Kaur also learned nuances of Indian Classical Music from Pandita Sharma. She was a mother of three children, and a grandmother. Her daughter Keerat Kaur is a Computer Engineer. Her two sons Gurkeerat Singh and Jaskeerat Singh are doctors in USA. Her daughter Keerat Kaur too was part of her group ~ Gurmat Gian Group. Gurpreet Kaur left this world at the age of 54yrs on 12th Sept 2016 in Baltimore USA. She had recorded around 25 cds of Gurbani Keertan. 'Raag Ratan' Album (6 CDs) is a Compilation of Shabads in All the 31 Sudh Raags of Sri Guru Granth Sahib Ji. 'Gauri Sagar' Album (3 CDs) is a Compilation of All forms of Raag Gauri in Sri Guru Granth Sahib Ji. 'Nanak Ki Malhaar' ~ ((3 CDs) is an album of Raag Malhar Shabads in various forms of Malhar. 'Gur Parsaad Basant Bana' ~ (3 CDs) is an album of Shabads in Raag Basant sung in various forms of Raag Basant. Har Ki Vadeyai Sarni Aayea Sewa Priya Kee Preet Piyaree Mohan Ghar Aavho Karo Jodariya Mo Kao Taar Le Raama Taar Le Tere Kavan Kavan Gun Keh Keh Gawan Mera Baid Guru Govinda Saajanrraa Mera Saajanrraa

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