IllnessAcrogigantism, differential diagnosis

NHS +

X-linked acrogigantism causes abnormally rapid growth beginning in infancy or early childhood and is due to pituitary hyperplasia or adenoma, rarely both. Some patients have coarse facial features, enlarged acra and acanthosis nigricans. The condition is more common in females and accounts for 10% of cases of abnormally rapid growth in children with pituitary gigantism. It is caused by a microduplication in Xq26.3 that may involve multiple genes and always the GPR101 gene. The encoded protein may be involved in the growth of cells in the pituitary gland or in the release of growth hormone. The differential diagnosis includes 5-6 genes that are inherited in an autosomal dominant manner. Half of the cases of pituitary gigantism are caused by AIP gene mutations. A negative molecular genetic result does not exclude the clinical diagnosis of X-linked acrogigantism.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK476671/

• Alias: Gigantismus, infantiler hereditärer
• Alias: Gigantismus, infantiler, durch Hypophysenhyperplasie
• Alias: Gigantismus, infantiler, familiäre Form
• Alias: Hereditäre Hyperplasie der Hypophyse
• Alias: Pseudohypoparathyroidism Ia-Ic (GNAS)
• Allelic: ACTH-independent macronodular adrenal hyperplasia (GNAS)
• Allelic: Acrodysostosis 1, with/-out hormone resistance (PRKAR1A)
• Allelic: Adrenal adenoma, somatic (MEN1)
• Allelic: Adrenocortical tumor, somatic (PRKAR1A)
• Allelic: Angiofibroma, somatic (MEN1)
• Allelic: Carcinoid tumor of lung (MEN1)
• Allelic: Lipoma, somatic (MEN1)
• Allelic: McCune-Albright syndrome, somatic, mosaic (GNAS)
• Allelic: Myxoma, intracardiac (PRKAR1A)
• Allelic: Osseous heteroplasia, progressive (GNAS)
• Allelic: Parathyroid adenoma, somatic (MEN1)
• Allelic: Pigmented nodular adrenocortical disease, primary, 1 (PRKAR1A)
• Allelic: Pseudopseudohypoparathyroidism (GNAS)
• Cardioacrofacial dysplasia 2 (PRKACB)
• Carney complex, type 1 (PRKAR1A)
• Multiple endocrine neoplasia 1 (MEN1)
• Pituitary adenoma 1, multiple types (AIP)
• Pituitary adenoma 2, GH-secreting (GPR101)
• Pituitary adenoma 3, multiple types, somatic (GNAS)
• Pituitary adenoma predisposition (AIP)