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Prepubertal gynecomastia in Peutz-Jeghers syndrome: incomplete penetrance in a familial case and management with an aromatase inhibitor

Department of Pediatric Endocrinology and INSERM U561, Groupe Hospitalier Cochin -Saint Vincent de Paul and Université Paris V, 82 av Denfert Rochereau, 75014 Paris, France, and ¹ Laboratory of Hormonal Biochemistry and ² Department of Radiology, Groupe Hospitalier Cochin-Saint Vincent de Paul, 75014 Paris, France

(Correspondence should be addressed to J-C Carel; Email: carel{at}paris5.inserm.fr)

Abstract

Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal-dominant disorder characterized by multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation and increased predisposition to various neoplasms. Endocrine manifestations in PJS include gynecomastia due to calcified Sertoli cell testicular tumors usually referred to as large-cell calcifying Sertoli cell tumors (LSCT).

Objective: To evaluate the value of endocrine markers and aromatase inhibitor treatment in children with PJS and LSCT.

Design and setting: Familial cases, followed in a tertiary care center.

Patients: Two male siblings aged 7 and 9 years with PJS and LSCT.

Intervention: Third generation aromatase inhibitor (anastrozole) in one of the patients.

Main outcome measures: Longitudinal measurements of sex-steroids, gonadotropins, Sertoli cell markers and auxological evaluation.

Results: The two male siblings with PJS had similar bilateral multifocal testicular calcifications and biochemical evidence of Sertoli cell dysfunction manifested by elevated plasma inhibin- levels. Only one sibling had gynecomastia. Estradiol levels were normal in both. During treatment with anastrozole, estradiol levels, growth and skeletal maturation, as well as Sertoli cell markers (inhibin B, inhibin- and anti-Mullerian hormone) decreased.

Conclusions: Inhibin- may be considered as a marker for LSCT in children with PJS, pointing to a specific defect in inhibin regulation in this condition. Moreover, the decrease in Sertoli cell markers during aromatase inhibitor treatment suggests that increased estrogen production is a primary event regulating downstream production of Sertoli cell peptides. Anastrozole is efficient in controlling the clinical features of the disease and should be proposed as an alternative to bilateral orchidectomy, which is often performed in this condition.

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