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Bangstad syndrome

MONDO:0008874

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.

Also known as: Bangstad syndrome, ataxia-diabetes-goiter-gonadal insufficiency syndrome, Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency, Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency, Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goitre and primary gonadal insufficiency

6 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Endocrine system disorder (61) Human disease (14) Disease by body system or component (0) Polyendocrinopathy (0)
Trials to join now! 4 Not yet finished but already full! 1 Completed 1
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