Obesity due to prohormone convertase I deficiency

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Obesity due to prohormone convertase I deficiency

Synonyms: PCI deficiency

A rare genetic endocrine disease characterized by early onset of severe intractable diarrhea and intestinal malabsorption followed by obesity and hormonal deficiencies due to insufficient activation of several prohormones resulting in hypocortisolism hypothyroidism diabetes insipidus hypogonadism growth deficiency and diabetes mellitus. Extent and age of onset of hormone deficiencies are variable between patients.

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 October 2023.

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