ESPE Abstracts (2015) 84 P-3-1002

Leydig-Cell Tumour, a Rare Cause of LH-Independent Sexual Precocity in Boys

Maxime Gerarda, Cecile Thomas-Teinturiera, Claire Bouvattiera, Anne Mantele, Guenolee De Lambertb, Sylvie Beaudoind, Charlotte Mussinic & Bougneres Pierrea


aEndocrinologie Pédiatrique, Centre Hospitalier Universitaire Kremlin Bicêtre, Kremlin-Bicêtre, France; bChirurgie Pédiatrique, Centre Hospitalier Universitaire Kremlin Bicêtre, Kremlin-Bicêtre, France; cAnatomopathologie, Centre Hospitalier Universitaire Kremlin Bicêtre, Kremlin-Bicêtre, France; dNecker Enfants Malades, Centre Hospitalier Universitaire, Paris, France; eBiologie Moléculaire, Centre Hospitalier Universitaire Kremil-Bicêtre, Kremlin-Bicêtre, France


Background: Leydig-cell tumours in children are rare, comprising only 4 to 9% of all primary testis tumours in prepubertal males. These boys present with isosexual precocious pseudopuberty characterized by increased testosterone and low gonadotropin levels. We describe two cases and will discuss differential diagnosis and pathogenesis.

Case 1: C. was first referred at 8 years old for pubertal development with accelerated growth since 4 years of age. His voice has broken. Pubertal stage was A1P2G1, left testicular volume 4 ml, right 2 ml, penile length 60 mm. There was no acne, no gynecomastia, and no cafe-au-lait spots. Blood tests showed: low gonadotropin levels, FSH 0.74 UI/l, LH <0.07 UI/l, high testosterone level 1.1 ng/ml, total β-hCG level <2 UI/l. Scrotal ultrasound examination showed a left testicular solid tumour (size: 9*7 mm) with hypervascularisation. Tumor was surgically removed by enucleation without orchiectomy. Histological analysis supported the diagnosis of Leydig-cell adenoma. LH-receptor gene sequencing is ongoing in blood and tumour sample.

Case 2: A. was first referred at 5 years old for premature pubic hair. Pubertal stage was A1P2G1, left testicular volume 4 ml, right 2 ml, and penile length 40 mm. There was no acne, no gynecomastia, and no cafe-au-lait spots. Blood tests showed: low gonadotropin levels, FSH 0.17 UI/l, LH 0.04 UI/l, high testosterone level 1.04 ng/ml, total β-hCG<2 UI/l. Scrotal ultrasound examination showed a left testicular solid tumour (size: 7*5 mm) with hypervascularisation. Tumour was surgically removed by enucleation without orchiectomy. Histological analysis supported the diagnosis of Leydig-cell adenoma. No abnormality in sequence of LH-receptor gene was found in blood or in tumour sample.

Conclusion: Scrotal ultrasound examination should be performed in case of LH-independent sexual precocity in boys with testicular asymmetry in order to diagnose Leydig-cell adenoma. This tumour should be treated by enucleation without orchiectomy.

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