Congenital Generalized Lipodystrophy

Congenital Generalized Lipodystrophy

Berardinelli-Seip Syndrome

Congenital Generalized Lipodystrophy is a rare genetic disease. It is characterized by near complete absence of body fat. It is inherited as an autosomal recessive disorder. It is a disease involving the adipose tissue (fat tissue) of the body.

Parents are carriers of the genes but are not affected. There is a 25% chance of transmission of both defective genes to the affected children. The ratio of affected to unaffected children is 1:4.

Clinical features

  • The diagnosis is evident at birth or immediately afterwards. These infants look very muscular due to the absence of fat. Nearly the entire body is affected, only the palms, soles and scalp are spared.
  • These patients also have accelerated growth during their childhood and have a voracious appetite.
  • The onset of diabetes is usually during the pubertal years and requires high dose of insulin to control the blood glucose levels.
  • They have Severe insulin resistance; high serum insulin and triglyceride levels and low levels of high-density lipoprotein (HDL) cholesterol.
  • Also have acanthosis nigricans (dark velvety pigmentation of the skin) in the axilla, neck or groin.
  • Enlarged hands, feet and prominent mandible (acromegaloid features), umbilical hernia .
  • They have lytic lesions (look like bone is eaten-up on X-rays) in the long bones of the body such as the humerus, femur.
  • Females present with enlarged clitoris, increased body hair, absence of or irregular menstrual cycles and polycystic ovaries
  • A gene for CGL has been identified on the long arm of chromosome 9 (9q34).
Acquired Generalized Lipodystrophy
Familial Partial Lipodystrophy
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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