IMPE Abstracts

Introduction: Leydig cell hyperplasia (LCH) or tumour are rare in children, representing less than 3% of all testicular tumours and typically presents as gonadotropin-independent precocious puberty due to excess androgen secretion. LCH can be defined as an increase in the size and number of Leydig cells within the testicles. These cells are responsible for the production of testosterone in males.

Case: Our patient was a 3-year-old male, referred from his paediatrician for evaluation of premature pubarche. His parents had noticed pubic hair and development of adult-like axillary body odour two months prior to the consultation. Within his past medical history, he was born preterm at 32 weeks due to premature Rupture of Membranes. There were no pregnancy complications. He was hospitalized for forty-two days. No relevant familiar medical history. At physical examination he had tall stature > 97 percentile and Tanner 2 pubic hair, adult-like apocrine body odour, enlarged penis and asymmetrical testes with palpable masses. The testicular volume, using Prader Orchidometer, was 5 cc in the right testis and 2 cc in the left testis. Additionally, four café-au-lait spots were found. Imaging and laboratory tests were requested, revealing a radiological bone age of 6 years (according to the Greulich & Pyle method) that was 3 years above his chronological age. The hormonal laboratory test showed a Total Testosterone 83 ng/ ml (stage Tanner 3), LHRH test with prepubertal gonadotropins level, basal 17α-hydroxyprogesterone (17-OHP) was normal (0.95 ng/ml) and other adrenal androgens were also within normal range. Alpha-fetoprotein and Beta Chorionic Gonadotropin were negative, as well as GNAS specific allele PCR in DNA obtained from leukocytes. Testicular ultrasound showed the right testicle with a volume of 1.3 ml and a mass in the upper third, that was predominantly hypoechogenic, poorly defined and multilobulated. A total right orchiectomy was performed, tissue was taken for biopsy and GNAS study, the latter was negative. Histological study showed Leydig cell hyperplasia without malignant cells. One month later testosterone levels were undetectable and pubic hair and adult-like apocrine body odour were disappearing.

Conclusions: Leydig cell hyperplasia is a rare cause of gonadotropin-independent precocious puberty but should be suspected in the presence of testicular asymmetry. Total orchiectomy is the best treatment with total recovery of patients. The Mc Cune-Albright syndrome is a differential diagnosis that must be kept in mind and that was ruled out in our patient.