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.
Gordon H, Pimstone BL, Leary PM, Gordon W. Congenital Generalized Lipodystrophy With Abnormal Growth Hormone Homeostasis. Arch Dermatol. 1971;104(5):551–559. doi:10.1001/archderm.1971.04000230093017
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