Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal-dominant disorder frequently caused by the serine-threonine-kinase-11(STK11) gene mutation and characterized by hamartomatous polyps throughout the gastrointestinal tract, mucocutaneous hyperpigmentation and predisposition to several malignancies. Rarely, PJS may be associated to an oestrogen producing large cell calcifying Sertoli cell tumour that may result in gynecomastia and increased growth velocity (GV).
Objective and hypotheses: We present data of two boys affected by PJS, treated with the aromatase inhibitor (anastrozole) for gynecomastia.
Method: Patient 1 (P1-9 years old) and patient 2 (P2-6 years old) came to our observation for bilateral gynecomastia. Physical examination showed pigmented lesions of the lips, testicular volume of 7 ml bilaterally for P1 and 4 ml for P2; pubic hair corresponding to a Tanner stage of 2 in P1 and of 1 in P2 and an infantile penis in both. GV was 7.5 cm/year (>97th percentile) in P1 and 7 cm/year (75th-90th percentile) in P2. Bone age was consistent with chronological age for both patients. The mammary gland ultrasound showed a bilateral diameter of 8 cm in P1 and 6 cm in P2. Testicular ultrasound revealed a benign bilateral multifocal microcalcification pattern. Plasma levels of LH, FSH, 17β-oestradiol, testosterone, DHEAS, α-fetoprotein and β-HCG were normal while oestrone, anti-mullerian hormone and inibin-B were elevated in both patients. Genetic analysis discovered a partial deletion of chromosome 19p13.3 incorporating the STK11 gene in P1 and a deletion of STK11 gene in P2. Both patients started treatment with anastrozole: 1 mg/day.
Results: P1: after 1 year GV decreased to 5.7 cm/year and gynecomastia decreased to 4 cm. P2: after 6 months GV decreased to 4.8 cm/year and gynecomastia decreased to 4 cm. Estrone and anti-mullerian-hormone levels decreased in both patients. No side effects were described.
Conclusion: Anastrozole seems to be efficient in treating gynecomastia in PJS prepubertal male patients by controlling oestrogen excess and may represent an alternative to orchidectomy.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology