Breast ultrasound in the management of gynecomastia in Peutz–Jeghers syndrome in monozygotic twins: two case reports

Abstract

IntroductionPeutz–Jeghers syndrome is an autosomal dominant disease with incomplete penetrance and variable expression caused by germline mutation of serine threonine kinase 11/liver kinase B1; it is characterized by hamartomatous polyps in the gastrointestinal tract, mucocutaneous melanin pigmentation, and increased predisposition to neoplasms. In Peutz–Jeghers syndrome, bilateral Sertoli cell testicular tumors cause endocrine manifestations including gynecomastia and feminization.This study aimed to assess the role of breast ultrasound in the evaluation of the effectiveness of an innovative surgical approach.Case presentationThis report presents a pair of European 9-year-old identical male twins with Peutz–Jeghers syndrome, bilateral prepubertal gynecomastia, and testicular multifocal calcifications. Both twins were treated with anastrozole for 2 years. After finishing treatment, both underwent subcutaneous mastectomy performed by the “modified” Webster technique. Breast examination and ultrasound were performed before and after the pharmacological and surgical treatment. A breast ultrasound scan before surgery showed bilateral gynecomastia in both patients. No solid nodular or cystic formations were present on either side. After pharmacological therapy and surgical glandular removal, a breast examination showed a significant reduction in breast volume; 1 year after surgery, a breast ultrasound scan of both patients showed a total absence of glandular parenchyma, with muscle planes well represented.ConclusionsBreast examination and ultrasound have proved to be a valid approach in the assessment of the treatment of prepubertal gynecomastia because they allow the efficacy of the pharmacological and surgical treatment to be evaluated in a multidisciplinary approach to one of the most frequent endocrine manifestations of Peutz–Jeghers syndrome.

RETRACTED: LKB1 suppresses androgen synthesis in a mouse model of hyperandrogenism via IGF‐1 signaling

“…As a versatile kinase, liver kinase b1 (LKB1) participates in the modulation of inhibition of cancer, homeostasis of cell energy, construction of polarity, and generation of vessels . In humans, LKB1 mutations in the germ line are related to Peutz–Jeghers syndrome (PJS), which causes vulnerability to the neoplasms in the gastrointestinal tract, accompanied with an elevated risk of cancer . Numerous studies have explored the influence of LKB1 on different cell types .…”

Response to Anastrozole Treatment in a Case with Peutz-Jeghers Syndrome and a Large Cell Calcifying Sertoli Cell Tumor

“…Elevated aromatase activity not only causes gynecomastia but also leads to other undesired effects such as increased rates of linear growth and bone maturation (1,2,3,7,8,9). …”

“…The exact mechanism that underlies the development of the LCCSCT remains unknown. LCCSCT accounts for 0.4-1.5% of all testicular tumors ( 3 ). Oftentimes, it appears in a bilateral and multifocal manner prior to, in the course of, or in the late phase of puberty.…”

“…In approximately 60% of patients, gene mutation is identified in the LKB1/STK 11 tumor suppressor gene. Other genes, undefined for the time being, may also be responsible for the pathogenesis ( 3 , 4 , 5 , 6 ).…”

State-of-the-Art in Integrated Breast Imaging

“…In the future the radiologist should predict the therapy response to breast cancer and orient geneticists [6, 7], oncologist, radiotherapist, and surgeons on the best personalized approach to breast cancer in specific patients. It would be possible thanks to radiomics features and multidisciplinary approach including biomedical engineers and physics (P. Crivelli et al in “A New Challenge for Radiologists: Radiomics in Breast Cancer”) [8].…”