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November 1971

Congenital Generalized Lipodystrophy With Abnormal Growth Hormone Homeostasis

Author Affiliations

Cape Town, South Africa

From the Division of Medicine (Drs. Pimstone and Hymie Gordon) and Department of Dermatology (Dr. Walter Gordon), University of Cape Town; Groote Schuur Hospital, Cape Town (Drs. Pimstone and Walter Gordon); Department of Paediatrics, Red Cross War Memorial Children's Hospital, Cape Town (Dr. Leary); and the Division of Medical Statistics, Epidemiology, and Population Genetics, Mayo Clinic, Rochester, Minn (Dr. Hymie Gordon).

Arch Dermatol. 1971;104(5):551-559. doi:10.1001/archderm.1971.04000230093017

A Portuguese girl with congenital, generalized lipodystrophy also had accelerated somatic growth with enlargement of the heart and external genitalia, excessive hairiness, increased skin pigmentation, acanthosis nigricans, chronic liver disease, diabetes mellitus, hyperlipidemia, and cerebral ventricular dilatation. She had an elevated plasma level of human growth hormone which responded abnormally to induced hyperglycemia and hypoglycemia. Review of the 22 recorded cases strongly suggests that patients with this disease are homozygous for a mutant autosomal gene with recessive effect. The genetic defect may result in disordered hypothalamic-hypophyseal control of growth hormone or in impaired peripheral breakdown of this hormone.