• PMID: 8019921
• Gene Name: AR
• Condition: Partial androgen insensitivity (Reifenstein syndrome)
• Association: The presence of the same mutation has been reported by other groups in four unrelated patients. Its association with different phenotypes of androgeninsensitivity and different biochemical characteristics of the androgen receptor pointed out the complexit
• Mutation: G-A point mutation at position 2818 of exon 7 responsible for an arginine-histidine substitution at position 840
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Partial androgen insensitivity (Reifenstein syndrome)

[Familial form of partial androgen insensitivity (Reifenstein syndrome): arginine-histidine mutation in position 840 in the androgen receptor]

Lumbroso S, Lobaccaro JM, Belon C, Amram S, Rodier M, Bringer J, Sultan C.

In a large kindred with Reifenstein syndrome, we performed the molecular analysis of the androgen receptor gene. Since the biochemical characteristics of the androgen receptor, determined on the cultured genital skin fibroblasts, showed a drastic decrease of the androgen binding capacity, we assumed that a point mutation was located in exons 4-8 encoding the carboxy-terminal domain of the receptor. Enzymatic amplifications of these exons did not point out any deletions. Direct sequencing showed a G-A point mutation at position 2818 of exon 7 responsible for an arginine-histidine substitution at position 840 of the androgen receptor. The presence of the same mutation has been reported by other groups in four unrelated patients. Its association with different phenotypes of androgen insensitivity and different biochemical characteristics of the androgen receptor pointed out the complexity of the genotype-phenotype relationship in androgen insensitivity. Moreover the identification of the point mutation gave us the opportunity to perform a prenatal exclusion diagnosis of Reifenstein syndrome in this high-risk family. FAU - Lumbroso, S AU - Lumbroso S AD - Unité de Biochimie Endocrinienne du Développement et de la Reproduction, Hôpital Lapeyronie. FAU - Lobaccaro, J M AU - Lobaccaro JM FAU - Belon, C AU - Belon C FAU - Amram, S AU - Amram S FAU - Rodier, M AU - Rodier M FAU - Bringer, J AU - Bringer J