Bangstad syndrome
Synonyms: Ataxia-diabetes-goiter-gonadal insufficiency syndrome
Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism progressive ataxia goiter primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH PTH LH FSH ACTH glucagon and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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