Severe gynaecological involvement in Proteus Syndrome

Area of Science:

• * Genetics and Molecular Biology
• * Gynecology and Obstetrics
• * Rare Diseases

Background:

• * Proteus Syndrome is a rare, complex congenital disorder characterized by mosaic overgrowth.
• * It is associated with somatic mosaic activating mutations in the AKT1 gene.
• * Gynecological manifestations are infrequently reported but can be severe.

Observation:

• * A young female patient with Proteus Syndrome due to AKT1 mutation c.49G>A (p.Glu17Lys) presented with significant gynecological involvement.
• * The severity of her condition necessitated a complete hysterectomy and a left adnexectomy.
• * This case underscores the potential for serious gynecological complications in Proteus Syndrome.

Findings:

• * Confirmed AKT1 mutation (c.49G>A, p.Glu17Lys) in a patient with Proteus Syndrome.
• * Documented severe gynecological involvement requiring extensive surgical intervention.
• * Highlighted the underrecognized nature of gynecological issues in Proteus Syndrome.

Implications:

• * Emphasizes the importance of considering gynecological evaluation in patients diagnosed with Proteus Syndrome.
• * Suggests a need for increased physician awareness regarding the potential severity of gynecological manifestations.
• * Contributes to the understanding of the phenotypic spectrum of Proteus Syndrome and AKT1 mutations.